Autoimmune Lymphoproliferative Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ALPS MCID: ATM006 MIFTS: 72	Autoimmune Lymphoproliferative Syndrome (ALPS) Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome:

Name: Autoimmune Lymphoproliferative Syndrome ⁵⁷ ¹¹ ²⁴ ¹⁹ ⁴² ⁵⁸ ⁵³ ⁴³ ¹⁴ ³⁸ ⁷¹ ⁷⁵

Alps ⁵⁷ ¹¹ ²⁴ ¹⁹ ⁴² ⁵⁸ ¹⁴

Canale-Smith Syndrome ⁵⁷ ¹¹ ¹⁹ ⁴² ⁵⁸ ⁷³

Autoimmune Lymphoproliferative Syndrome, Type Ia ⁵⁷ ¹² ⁷¹

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant ¹⁹ ⁵

Autoimmune Lymphoproliferative Syndrome, Type Ib ⁵⁷ ⁷¹

Autoimmune Lymphoproliferative Syndrome, Type 1b ²⁸ ⁵

Autoimmune Lymphoproliferative Syndrome, Type 1a ²⁸ ⁵

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant ⁵⁷

Autoimmune Lymphoproliferative Syndrome Type Ia ⁷³

Autoimmune Lymphoproliferative Syndrome Type Ib ⁷³

Autoimmune Lymphoproliferative Syndrome 1a ⁷³

Autoimmune Lymphoproliferative Syndrome 1b ⁷³

Fas Deficiency ¹⁹

Alps1a ⁷³

Alps1b ⁷³

Css ⁷³

Characteristics:

Inheritance:

Autosomal dominant,Autosomal recessive ⁵⁸ , Autosomal dominant ⁵⁷

Age Of Onset:

All ages ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in early childhood
recessive inheritance has been reported

GeneReviews:

²⁴

Penetrance Alps-fas. a distinction needs to be made between the penetrance of the cellular phenotype (defective fas-mediated apoptosis) and the penetrance of the clinical phenotype (i.e., alps)....

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Infectious diseases
Anatomical: Blood diseases Immune diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Neoplasms

Neoplasms of uncertain or unknown behaviour

Other neoplasms of uncertain or unknown behaviour of lymphoid, haematopoietic and related tissue

Neoplasm of uncertain or unknown behaviour of lymphoid, haematopoietic and related tissue, unspecified

Orphanet: ⁵⁸

Rare haematological diseases

Rare immunological diseases

External Ids:

Disease Ontology ¹¹ DOID:6688

OMIM® ⁵⁷ 601859

ICD9CM ³⁴ 279.41

MeSH ⁴³ D056735

NCIt ⁴⁹ C37864

SNOMED-CT ⁶⁸ 702444009

MESH via Orphanet ⁴⁴ D056735

ICD10 via Orphanet ³² D47.9

UMLS via Orphanet ⁷² C1328840

Orphanet ⁵⁸ ORPHA3261

MedGen ⁴⁰ C1328840 C1866119 C1866120 more

UMLS ⁷¹ C1328840 C1866119 C1866120

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Summaries for Autoimmune Lymphoproliferative Syndrome

MedlinePlus Genetics: ⁴² Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly).Autoimmune disorders are also common in ALPS. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Most of the autoimmune disorders associated with ALPS target and damage blood cells. For example, the immune system may attack red blood cells (autoimmune hemolytic anemia), white blood cells (autoimmune neutropenia), or platelets (autoimmune thrombocytopenia). Less commonly, autoimmune disorders that affect other organs and tissues occur in people with ALPS. These disorders can damage the kidneys (glomerulonephritis), liver (autoimmune hepatitis), eyes (uveitis), or nerves (Guillain-Barre syndrome). Skin problems, usually rashes or hives (urticaria), can also occur in ALPS.ALPS can have varying patterns of signs and symptoms. Most commonly, lymphoproliferation becomes apparent during childhood. Enlargement of the lymph nodes and spleen frequently occur in affected individuals. Autoimmune disorders typically develop several years later, most frequently as a combination of hemolytic anemia and thrombocytopenia, also called Evans syndrome. People with this classic form of ALPS generally have a near-normal lifespan, but have a greatly increased risk of developing cancer of the immune system cells (lymphoma) compared with the general population.Some people have signs and symptoms that resemble those of ALPS, including lymphoproliferation, lymphadenopathy, splenomegaly, and low blood counts, but the specific pattern of these signs and symptoms or the genetic cause may be different. Researchers disagree whether individuals with these non-classic forms should be considered to have ALPS or a separate condition.

MalaCards based summary: Autoimmune Lymphoproliferative Syndrome, also known as alps, is related to caspase 8 deficiency and autoimmune lymphoproliferative syndrome, type iii. An important gene associated with Autoimmune Lymphoproliferative Syndrome is FASLG (Fas Ligand), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. The drugs Amlodipine and Hormones have been mentioned in the context of this disorder. Affiliated tissues include spleen, liver and t cells, and related phenotypes are splenomegaly and chronic noninfectious lymphadenopathy

GARD: ¹⁹ Autoimmune lymphoproliferative syndrome (ALPS) is a disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). This results in the overproduction of lymphocytes, which build up and cause enlargement of the lymph nodes, liver and spleen. Affected individuals have an increased risk of developing cancer of the immune system cells (lymphoma) and may be at increased risk for other cancers. They can also have a variety of autoimmune disorders, most of which damage the blood cells. Some of the autoimmune disorders associated with ALPS can also damage the kidneys, liver, eyes, nerves, or connective tissues. Symptoms may include skin rashes, panniculitis, arthritis, inflammation of blood vessels (vasculitis), mouth sores, premature ovarian failure, and the development of neurological damage. ALPS is caused by genetic changes in the FAS gene in most cases. It is usually inherited in an autosomal dominant manner, although a small number of cases are inherited in an autosomal recessive manner. Some cases are also believed to arise from a genetic change in the lymphocytes that is not inherited, but instead occurs during the course of an individual's lifetime. This type of alteration is called a somatic genetic change.

UniProtKB/Swiss-Prot ⁷³ Autoimmune lymphoproliferative syndrome 1a: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

Autoimmune lymphoproliferative syndrome 1b: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

OMIM®: ⁵⁷ Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias (summary by Dowdell et al., 2010). For a review of the autoimmune lymphoproliferative syndromes, see Teachey et al. (2009). (601859) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.

Orphanet: ⁵⁸ A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

Wikipedia: ⁷⁵ Autoimmune lymphoproliferative syndrome (ALPS) is a form of lymphoproliferative disorder (LPDs). It... more...

GeneReviews: NBK1108

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Related Diseases for Autoimmune Lymphoproliferative Syndrome

Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphoproliferative Syndrome 1	Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type Iii	Lymphoproliferative Syndrome 3

Diseases related to Autoimmune Lymphoproliferative Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 275)

#	Related Disease	Score	Top Affiliating Genes
1	caspase 8 deficiency	33.6	FADD CASP8 CASP10
2	autoimmune lymphoproliferative syndrome, type iii	33.6	PRKCD LRBA CASP10
3	ras-associated autoimmune leukoproliferative disorder	33.6	PRKCD NRAS LRBA FASLG FAS CASP8
4	lymphoproliferative syndrome	32.3	UNC13D TNFAIP3 STAT3 RASGRP1 PRKCD PRF1
5	autoimmune disease	31.6	TNFAIP3 STAT3 PRF1 IL10 FASLG FAS
6	anemia, autoimmune hemolytic	31.5	LRBA IL10 CTLA4
7	lymphoma	31.5	STAT3 PTPRC ITK FAS CASP8 CASP10
8	hemolytic anemia	31.4	LRBA FASLG FAS CASP10
9	thrombocytopenia	31.4	STAT3 ITK IL10 FASLG FAS CTLA4
10	immune deficiency disease	31.2	PTPRC IL10 FASLG FAS CTLA4
11	evans' syndrome	31.1	LRBA FAS CTLA4
12	hemophagocytic lymphohistiocytosis	31.1	UNC13D PRF1 ITK IL10 CTLA4
13	common variable immunodeficiency	31.1	STAT3 PRKCD LRBA IL10 FAS CTLA4
14	lymphoma, non-hodgkin, familial	31.0	STAT3 PTPRC PRF1 NRAS FAS CTLA4
15	lymphopenia	31.0	ITK IL10 FASLG FAS CTLA4
16	systemic lupus erythematosus	30.9	TNFAIP3 STAT3 RASGRP1 PTPRC IL10 FASLG
17	lymphadenitis	30.8	IL10 FASLG FAS
18	burkitt lymphoma	30.7	STAT3 IL10 FAS CASP8
19	lymphoproliferative syndrome 1	30.6	UNC13D PRF1 ITK
20	aplastic anemia	30.6	PRF1 IL10 FASLG FAS
21	autoimmune hepatitis	30.6	PTPRC IL10 FAS CTLA4
22	breast adenocarcinoma	30.6	STAT3 PTPRC IL10 CASP8
23	pancytopenia	30.6	UNC13D PTPRC PRF1 ITK
24	leukemia, acute myeloid	30.5	STAT3 PTPRC PRF1 NRAS IL10 FASLG
25	combined immunodeficiency	30.5	UNC13D STAT3 RASGRP1 PTPRC PRF1 LRBA
26	sjogren syndrome	30.5	IL10 FASLG FAS
27	esophageal cancer	30.4	STAT3 IL10 FASLG FAS CTLA4 CASP8
28	type 1 diabetes mellitus	30.4	PTPRC IL10 FASLG FAS CTLA4
29	autoimmune lymphoproliferative syndrome, type iia	11.9
30	immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation	11.8
31	coffin-siris syndrome 1	11.5
32	dianzani autoimmune lymphoproliferative disease	11.5
33	immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction	11.4
34	churg-strauss syndrome	11.1
35	coffin-siris syndrome 12	11.0
36	splenomegaly	10.8
37	pneumoconiosis	10.5	IL10 FASLG FAS CASP8
38	vogt-koyanagi-harada disease	10.5	IL10 FASLG FAS CTLA4
39	lymphoproliferative syndrome, x-linked, 1	10.5	UNC13D PRF1 ITK FASLG FAS
40	severe cutaneous adverse reaction	10.5	PRF1 FASLG FAS CTLA4
41	lymphoproliferative syndrome, x-linked, 2	10.5	UNC13D LRBA ITK
42	griscelli syndrome, type 2	10.5	UNC13D PRF1 IL10
43	immunodysregulation, polyendocrinopathy, and enteropathy, x-linked	10.5	STAT3 LRBA IL10 CTLA4
44	thyroiditis	10.5	IL10 FASLG CTLA4
45	hashimoto thyroiditis	10.5	NRAS FASLG FAS CTLA4
46	shigellosis	10.5	IL10 FASLG FAS
47	autoinflammatory syndrome	10.5	UNC13D PRF1 ADA2
48	primary thrombocytopenia	10.5	LRBA IL10 CTLA4
49	immunodeficiency 65	10.5	PRF1 FASLG
50	t-cell acute lymphoblastic leukemia	10.5	TNFAIP3 STAT3 PTPRC FASLG FAS CASP8

Graphical network of the top 20 diseases related to Autoimmune Lymphoproliferative Syndrome:

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Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome:

⁵⁸ ³⁰ (show top 50) (show all 80)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	splenomegaly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001744
2	chronic noninfectious lymphadenopathy ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002730
3	hepatomegaly ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002240
4	hypersplenism ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001971
5	bruising susceptibility ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000978
6	autoimmune hemolytic anemia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001890
7	autoimmune thrombocytopenia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001973
8	neutropenia in presence of anti-neutropil antibodies ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001904
9	increased circulating igg level ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003237
10	elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002851
11	increased b cell count ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005404
12	abnormal circulating interleukin concentration ³⁰	Frequent (33%)		HP:0030782
13	hepatitis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012115
14	thyroiditis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100646
15	urticaria ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001025
16	vasculitis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002633
17	reticulocytosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001923
18	eosinophilia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001880
19	decreased circulating igg level ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0004315
20	decreased circulating total igm ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002850
21	t-cell lymphoma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012190
22	b-cell lymphoma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012191
23	increased circulating iga level ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003261
24	antiphospholipid antibody positivity ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003613
25	glomerulonephritis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000099
26	rheumatoid factor positive ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002923
27	coombs-positive hemolytic anemia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0004844
28	abnormal vitamin b12 level ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0040126
29	antinuclear antibody positivity ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003493
30	hodgkin lymphoma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012189
31	antineutrophil antibody positivity ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003453
32	burkitt lymphoma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0030080
33	increased circulating ige level ³⁰	Occasional (7.5%)		HP:0003212
34	decreased proportion of cd4-positive helper t cells ³⁰	Occasional (7.5%)		HP:0005407
35	decreased specific anti-polysaccharide antibody level ³⁰	Occasional (7.5%)		HP:0002848
36	abnormal proportion of cd8-positive t cells ³⁰	Occasional (7.5%)		HP:0031393
37	seizure ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0001250
38	arthritis ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0001369
39	renal insufficiency ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0000083
40	hydrops fetalis ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0001789
41	premature ovarian insufficiency ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0008209
42	uveitis ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0000554
43	headache ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0002315
44	basal cell carcinoma ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0002671
45	bone marrow hypocellularity ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0005528
46	thyroid carcinoma ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0002890
47	pulmonary fibrosis ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0002206
48	pulmonary infiltrates ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0002113
49	recurrent aphthous stomatitis ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0011107
50	panniculitis ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0012490

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
urticaria
vasculitis rash

Laboratory Abnormalities:
rheumatoid factor positive
platelet antibody positive
increased levels of igg
increased levels of iga
increased levels of igm
more

Neoplasia:
increased risk of malignant lymphoma

Abdomen Liver:
hepatomegaly

Hematology:
eosinophilia
iron deficiency anemia
autoimmune hemolytic anemia
autoimmune thrombocytopenia
autoimmune neutropenia

Immunology:
chronic noninfectious lymphadenopathy
reduced delayed hypersensitivity
defective lymphocyte apoptosis
increased number of peripheral cd3+ t cells
increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors
more

Clinical features from OMIM®:

601859 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Autoimmune Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	10.29	BCL2L11 FADD FAS IL10 RASGRP1 TNFAIP3
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	10.29	BCL2L11 FADD FAS FASLG IL10 RASGRP1
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	10.29	CASP8
4	no effect	GR00402-S-1	10.18	ACTA2 ADA2 BCL2L11 CASP10 CASP8 CTLA4
5	no effect	GR00402-S-2	10.18	ACTA2 ADA2 BCL2L11 CASP10 CASP8 CTLA4
6	Reduced mammosphere formation	GR00396-S	9.5	FADD FAS FASLG ITK NRAS PTPRC

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome:

⁴⁵ (show all 16)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.37	BCL2L11 CASP8 CTLA4 FADD FAS FASLG
2	endocrine/exocrine gland	MP:0005379	10.33	BCL2L11 CASP8 CTLA4 FADD FAS FASLG
3	liver/biliary system	MP:0005370	10.32	CASP8 CTLA4 FADD FAS FASLG IL10
4	nervous system	MP:0003631	10.31	BCL2L11 CASP8 FADD FAS FASLG IL10
5	growth/size/body region	MP:0005378	10.29	BCL2L11 CASP8 FADD FAS IL10 ITK
6	immune system	MP:0005387	10.25	BCL2L11 CASP8 CTLA4 FADD FAS FASLG
7	cellular	MP:0005384	10.22	BCL2L11 CASP8 FADD FAS FASLG IL10
8	neoplasm	MP:0002006	10.21	BCL2L11 CASP8 FAS FASLG IL10 NRAS
9	normal	MP:0002873	10.2	BCL2L11 CTLA4 FAS FASLG IL10 NRAS
10	renal/urinary system	MP:0005367	10.18	BCL2L11 CASP8 FAS FASLG PRKCD PTPRC
11	cardiovascular system	MP:0005385	10.18	ACTA2 BCL2L11 CASP8 CTLA4 FADD FAS
12	digestive/alimentary	MP:0005381	10.17	CTLA4 FADD FAS FASLG IL10 LRBA
13	hematopoietic system	MP:0005397	9.89	BCL2L11 CASP8 CTLA4 FADD FAS FASLG
14	respiratory system	MP:0005388	9.86	CASP8 CTLA4 FAS FASLG IL10 PTPRC
15	skeleton	MP:0005390	9.85	CTLA4 FAS FASLG IL10 NRAS PRKCD
16	integument	MP:0010771	9.4	BCL2L11 CASP8 CTLA4 FADD FAS FASLG

Sources

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome

Drugs for Autoimmune Lymphoproliferative Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 56)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Amlodipine

Approved

Phase 4

88150-42-9

2162

Hormones

Phase 4

Antihypertensive Agents

Phase 4

Vasodilator Agents

Phase 4

Calcium, Dietary

Phase 4

calcium channel blockers

Phase 4

Calcium

Nutraceutical

Phase 4

7440-70-2

271

Betamethasone

Approved, Vet_approved

Phase 3

378-44-9

9782

Anti-Asthmatic Agents

Phase 3

Betamethasone-17,21-dipropionate

Phase 3

Betamethasone Valerate

Phase 3

2152-44-5

Betamethasone sodium phosphate

Phase 3

Betamethasone benzoate

Phase 3

Betamethasone acetate

Phase 3

Hormone Antagonists

Phase 3

Respiratory System Agents

Phase 3

glucocorticoids

Phase 3

Anti-Inflammatory Agents

Phase 3

Valproic acid

Approved, Investigational

Phase 1, Phase 2

99-66-1

3121

Sirolimus

Approved, Investigational

Phase 1, Phase 2

53123-88-9

5284616 6436030

Miconazole

Approved, Investigational, Vet_approved

Phase 1, Phase 2

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 1, Phase 2

23593-75-1

2812

Melphalan

Approved

Phase 2

148-82-3

4053 460612

Fludarabine

Approved

Phase 2

75607-67-9, 21679-14-1

30751 657237

Alemtuzumab

Approved, Investigational

Phase 2

216503-57-0

Thiotepa

Approved, Investigational

Phase 2

52-24-4

5453

Neurotransmitter Agents

Phase 1, Phase 2

Psychotropic Drugs

Phase 1, Phase 2

Anticonvulsants

Phase 1, Phase 2

Anti-Infective Agents

Phase 1, Phase 2

Anti-Bacterial Agents

Phase 1, Phase 2

Antifungal Agents

Phase 1, Phase 2

Antibiotics, Antitubercular

Phase 1, Phase 2

Immunosuppressive Agents

Phase 2

Immunologic Factors

Phase 2

Alkylating Agents

Phase 2

Antineoplastic Agents, Alkylating

Phase 2

Antineoplastic Agents, Immunological

Phase 2

Levoleucovorin

Approved, Experimental, Investigational

Phase 1

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Pyrimethamine

Approved, Investigational, Vet_approved

Phase 1

58-14-0, 19085-09-7

4993

Sulfadoxine

Approved, Investigational

Phase 1

2447-57-6

17134

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 1

59-30-3

6037

Folic Acid Antagonists

Phase 1

Folate

Phase 1

Vitamin B9

Phase 1

Antiprotozoal Agents

Phase 1

Antiparasitic Agents

Phase 1

Vitamin B Complex

Phase 1

Antimalarials

Phase 1

Fanasil, pyrimethamine drug combination

Phase 1

Interventional clinical trials:

(show all 15)

#	Name	Status	NCT ID	Phase	Drugs
1	Azelnidipine and Amlodipine Anti-Coronary Atherosclerotic Trial in Hypertensive Patients Undergoing Coronary Intervention by Serial Volumetric Intravascular Ultrasound Analysis in Junten Medical University (ALPS-J)	Completed	NCT00294567	Phase 4	Calcium channel blockers (amlodipine, azelnidipine)
2	Antenatal Late Preterm Steroids (ALPS): A Randomized Placebo-Controlled Trial	Completed	NCT01222247	Phase 3	Betamethasone;Placebo
3	Pilot (Phase I-II) Study of Valproic Acid (Depakote) for the Treatment of the Autoimmune Lymphoproliferative Syndrome (ALPS)	Completed	NCT00605657	Phase 1, Phase 2	Valproic Acid
4	Sirolimus for Patients With Chronic and/or Refractory Autoimmune Cytopenias: A Pilot Series	Completed	NCT00392951	Phase 1, Phase 2	sirolimus
5	A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime	Recruiting	NCT01821781	Phase 2	Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
6	Pilot (Phase I-II) Study of Pyrimethamine (Daraprim) for the Treatment of the Autoimmune Lymphoproliferative Syndrome (ALPS)	Completed	NCT00065390	Phase 1	Pyrimethamine
7	Pilot Study of Pyrimethamine and Sulfadoxine (Fansidar) for the Treatment of Individuals With the Autoimmune Lymphoproliferative Syndrome (ALPS)	Completed	NCT00013689	Phase 1	Fansidar (pyrimethamine and sulfadoxine)
8	Evaluation of the Practice of the TEP Choline in Provence - Alps and Côte d'Azur at Patients With Prostate Cancer - Multicentre Retrospective Study.	Unknown status	NCT03201380
9	Study of Fluorodeoxyglucose Positron Emission Tomography (FDG-PET) for the Evaluation of the Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Associated Lymphoma	Completed	NCT00068146
10	Correlation Between the Incidence of COVID-19 in Nursing-homes and the Profile of Nursing Homes in the French Alps	Completed	NCT04695457
11	Study of the Immunopathogenesis, Natural History, and Genetics of Autoimmune Lymphoproliferative Syndrome (ALPS) Associated With an Expansion of CD4-8-/TCR Alpha/Beta+ T Cells	Recruiting	NCT00001350
12	Clinical Outcomes of the ALPS Proximal Humerus Plating System	Recruiting	NCT03328650
13	Augsburg Longitudinal Plasma Study (ALPS) to Study Liquid Biopsy (LBx) as a Tool for Diagnostic Support, Assessment of Disease Progression, and Identification of Mutations During Disease Course in Patients With Solid Neoplasms Receiving Palliative Treatment	Recruiting	NCT05245136
14	Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation	Not yet recruiting	NCT04902807
15	Use of Fluorodeoxyglucose Positron Emission Tomography With Computed Tomography for the Evaluation of Autoimmune Lymphoproliferative Syndrome Lymphadenopathy Suggestive of Lymphoma	Withdrawn	NCT01672918

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome

Cochrane evidence based reviews: autoimmune lymphoproliferative syndrome

Sources

Genetic Tests for Autoimmune Lymphoproliferative Syndrome

Genetic tests related to Autoimmune Lymphoproliferative Syndrome:

#	Genetic test	Affiliating Genes
1	Autoimmune Lymphoproliferative Syndrome, Type 1b ²⁸	FASLG
2	Autoimmune Lymphoproliferative Syndrome, Type 1a ²⁸

Sources

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

Organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

MalaCards : Spleen, Liver, T Cells, Skin, Bone Marrow, Bone, Smooth Muscle

ODiseA: Blood And Bone Marrow

Sources

Publications for Autoimmune Lymphoproliferative Syndrome

Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50) (show all 3886)

#	Title	Authors	PMID	Year
1	Autoimmune lymphoproliferative syndrome with somatic Fas mutations. ⁵³ ⁶² ²⁴ ⁵⁷ ⁵	Holzelova E...Rieux-Laucat F	15459302	2004
2	Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. ⁵³ ⁶² ²⁴ ⁵⁷ ⁵	Wu J...Mountz JD	8787672	1996
3	Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. ⁵³ ⁶² ²⁴ ⁵⁷ ⁵	Fisher GH...Puck JM	7540117	1995
4	Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? ⁶² ²⁴ ⁵⁷ ⁵	van der Burg M...van Dongen JJ	10709732	2000
5	Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. ⁵³ ⁶² ⁵⁷ ⁵	Bettinardi A...Notarangelo LD	9028321	1997
6	Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. ²⁴ ⁵⁷ ⁵	Rieux-Laucat F...de Villartay JP	7539157	1995
7	The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. ⁵³ ⁶² ²⁴ ⁵⁷	Straus SE...Lenardo MJ	11418480	2001
8	Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. ⁵³ ⁶² ²⁴ ⁵	Rieux-Laucat F...Le Deist F	10515860	1999
9	Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. ⁵³ ⁶² ²⁴ ⁵	Martin DA...Lenardo MJ	10200300	1999
10	Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. ⁵³ ⁶² ²⁴ ⁵	Jackson CE...Puck JM	10090885	1999
11	The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. ⁵³ ⁶² ²⁴ ⁵	Infante AJ...Puck JM	9821419	1998
12	Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. ⁶² ⁵⁷ ⁵	Drappa J...Elkon KB	8929361	1996
13	A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome. ⁶² ²⁴ ⁵	Nabhani S...Fischer U	25451160	2014
14	Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation. ⁶² ²⁴ ⁵	Magerus-Chatinet A...Rieux-Laucat F	22857792	2013
15	FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. ⁶² ²⁴ ⁵	Kuehn HS...Oliveira JB	21490157	2011
16	Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. ⁶² ²⁴ ⁵⁷	Magerus-Chatinet A...Rieux-Laucat F	21183795	2011
17	Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. ⁶² ²⁴ ⁵⁷	Dowdell KC...Rao VK	20360470	2010
18	Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. ⁶² ²⁴ ⁵	Siegel RM...Lenardo MJ	10875918	2000
19	Chronic lymphadenopathy simulating malignant lymphoma. ⁵⁷ ⁵	Canale VC...Smith CH	4165068	1967
20	Residual CD95-pathway function in children with autoimmune lymphoproliferative syndrome is independent from clinical state and genotype of CD95 mutation. ⁵³ ⁶² ⁵	Fuchs H...Debatin KM	18948840	2009
21	Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. ⁵³ ⁶² ⁵	Clementi R...Bregni M	15459303	2004
22	Germline FAS gene mutation in a case of ALPS and NLP Hodgkin lymphoma. ⁵³ ⁶² ⁵	van den Berg A...Poppema S	11830507	2002
23	Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. ⁵³ ⁶² ⁵⁷	Gronbaek K...Guldberg P	9787134	1998
24	Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. ²⁴ ⁵	Kasahara Y...Taniguchi N	9533447	1998
25	Human autoimmune lymphoproliferative syndrome, a defect in the apoptosis-inducing Fas receptor: a lesson from the mouse model. ⁵³ ⁶² ⁵⁷	Nagata S	9609991	1998
26	Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. ⁵³ ⁶² ⁵⁷	Sneller MC...Straus SE	9028957	1997
27	A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. ²⁴ ⁵⁷	Sneller MC...Strober W	1386609	1992
28	Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. ⁶² ⁵	Klemann C...Neven B	27789675	2017
29	Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing? ⁶² ⁵	Langan RC...Rudloff U	23407489	2013
30	Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults. ⁶² ⁵	Lambotte O...Rieux-Laucat F	22983577	2013
31	Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance. ⁶² ⁵	Hsu AP...Puck JM	22237435	2012
32	Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). ⁶² ⁵⁷	Teachey DT...Grupp SA	19930184	2010
33	FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. ⁵³ ⁶² ²⁴	Magerus-Chatinet A...Rieux-Laucat F	19176318	2009
34	Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. ⁵³ ⁶² ²⁴	Cerutti E...Dianzani U	17999750	2007
35	Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. ⁵³ ⁶² ²⁴	Bi LL...Straus SE	17605793	2007
36	Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. ⁵³ ⁶² ²⁴	Zhu S...Puck JM	16446975	2006
37	Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. ⁵³ ⁶² ²⁴	Rossler J...Ehl S	16291365	2005
38	Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele. ⁵³ ⁶² ²⁴	Roesler J...Zheng L	15870181	2005
39	Bilateral uveitis in a patient with autoimmune lymphoproliferative syndrome. ⁶² ⁵⁷	Lim WK...Nussenblatt RB	15767081	2005
40	Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its relationship to Fas gene mutations. ⁵³ ⁶² ²⁴	Poppema S...van den Berg A	15160902	2004
41	Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. ⁵³ ⁶² ²⁴	Chun HJ...Lenardo MJ	12353035	2002
42	Caspase-10 is an initiator caspase in death receptor signaling. ⁵³ ⁶² ²⁴	Wang J...Lenardo MJ	11717445	2001
43	Description of serologic features in autoimmune lymphoproliferative syndrome. ⁵³ ⁶² ²⁴	Carter LB...Cantilena CC	10960521	2000
44	Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. ⁵³ ⁶² ²⁴	Wang J...Lenardo MJ	10412980	1999
45	The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. ⁶² ⁵	Vaishnaw AK...Elkon KB	9927496	1999
46	Pathological findings in human autoimmune lymphoproliferative syndrome. ⁵³ ⁶² ²⁴	Lim MS...Jaffe ES	9811346	1998
47	The Canale-Smith syndrome. ⁶² ⁵⁷	Straus SE...Puck JM	9148156	1997
48	Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial. ⁶² ²⁴	Bride KL...Teachey DT	26504182	2016
49	Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. ⁶² ²⁴	Sobh A...Massaad MJ	26456038	2016
50	Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. ⁶² ²⁴	Ruiz-Garcia R...Allende LM	26334989	2015

Sources

Genes for Autoimmune Lymphoproliferative Syndrome

Genes related to Autoimmune Lymphoproliferative Syndrome (6 elite genes):

(show top 50) (show all 89)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FASLG	Fas Ligand	Protein Coding	1684.53	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	8787672 22857792 25451160 (more) 20301287 16627752 17605793 10672498 19176318 17062728
2	FAS	Fas Cell Surface Death Receptor	Protein Coding	1663.03	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Susceptibility factor ⁵⁷ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	4165068 4852259 7539157 (more) 7540117 8929361 9028321 9533447 9536098 9821419 9927496 10090885 10200300 10515860 10709732 10875918 11830507 15459302 15459303 17576681 18948840 21490157 22237435 22983577 23407489 27789675 21885602 20301287 15640690 10340403 17605793 12657942 9695976 17999750 18070632 11418480 15160902 16291365 12215906 9136951 10807785 12930371 17725802 11513545 20408337 8642249 15557123 9108407 9028957 17301392 16537120 12353035 9542527 9322534 18223337 16271851 10329802 10575548 9106310 8787672 19217201 16524705 10960521 10594139 14592838 10403307 17336828 15870181 15140060 12149230 11246866 10691859 9760572 9609991 12819469 11397650 11380411 9787134 10672498 17724145 17601274 11318598 9811346
3	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	403.35	Pathogenic ⁵ DISEASES inferred ¹⁴	10875918 22237435
4	CASP10	Caspase 10	Protein Coding	397.15	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	20301287 10412980 17999750 (more) 11717445 16446975 18818883 12353035 15640690 12010812
5	PRKCD	Protein Kinase C Delta	Protein Coding	382.5	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	23430113
6	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	363.27	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	29155103
7	CASP8	Caspase 8	Protein Coding	33.19	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	18818883 18424336 15160902 (more) 15640690
8	FADD	Fas Associated Via Death Domain	Protein Coding	24.19	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	8955195
9	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	23.47	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
10	PRF1	Perforin 1	Protein Coding	22.95	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
11	IL10	Interleukin 10	Protein Coding	20.07	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12406097 19176318
12	PTPRC	Protein Tyrosine Phosphatase Receptor Type C	Protein Coding	17.7	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12492582 11513545
13	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	15.09	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
14	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	14.05	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
15	TNFAIP3	TNF Alpha Induced Protein 3	Protein Coding	13.91	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
16	UNC13D	Unc-13 Homolog D	Protein Coding	13.86	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
17	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	13.74	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	BCL2L11	BCL2 Like 11	Protein Coding	13.36	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	ITK	IL2 Inducible T Cell Kinase	Protein Coding	13.18	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
20	ADA2	Adenosine Deaminase 2	Protein Coding	13.09	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	12.72	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	12.54	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	12.42	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	JAK1	Janus Kinase 1	Protein Coding	12.25	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
25	MIR146A	MicroRNA 146a	RNA Gene	11.81	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	TCN1	Transcobalamin 1	Protein Coding	11.43	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	HDAC9	Histone Deacetylase 9	Protein Coding	10.33	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	SPP1	Secreted Phosphoprotein 1	Protein Coding	9.42	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15705633 20378012
29	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	9.28	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18330725 16226439
30	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	8.16	DISEASES inferred ¹⁴ ¹⁴
31	ARFGAP1	ADP Ribosylation Factor GTPase Activating Protein 1	Protein Coding	8.02	DISEASES inferred ¹⁴
32	ARFGAP3	ADP Ribosylation Factor GTPase Activating Protein 3	Protein Coding	7.98	DISEASES inferred ¹⁴
33	MIR21	MicroRNA 21	RNA Gene	7.75	GeneCards inferred via : Publications (show sections)
34	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	7.34	DISEASES inferred ¹⁴ ¹⁴
35	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	7.18	DISEASES inferred ¹⁴
36	FAF1	Fas Associated Factor 1	Protein Coding	7.1	GeneCards inferred via : Publications (show sections)
37	PTPN3	Protein Tyrosine Phosphatase Non-Receptor Type 3	Protein Coding	7.1	GeneCards inferred via : Publications (show sections)
38	CD8A	CD8a Molecule	Protein Coding	6.99	DISEASES inferred ¹⁴
39	CD4	CD4 Molecule	Protein Coding	6.99	DISEASES inferred ¹⁴
40	NUP133	Nucleoporin 133	Protein Coding	6.9	DISEASES inferred ¹⁴
41	RIPK3	Receptor Interacting Serine/Threonine Kinase 3	Protein Coding	6.88	DISEASES inferred ¹⁴
42	RIPK1	Receptor Interacting Serine/Threonine Kinase 1	Protein Coding	6.68	DISEASES inferred ¹⁴
43	MT-CYB	Mitochondrially Encoded Cytochrome B	Protein Coding	6.47	DISEASES inferred ¹⁴
44	MT-TH	Mitochondrially Encoded TRNA-His (CAU/C)	RNA Gene	6.47	DISEASES inferred ¹⁴
45	TRIP11	Thyroid Hormone Receptor Interactor 11	Protein Coding	6.39	DISEASES inferred ¹⁴
46	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	6.31	DISEASES inferred ¹⁴
47	CFLAR	CASP8 And FADD Like Apoptosis Regulator	Protein Coding	6.25	DISEASES inferred ¹⁴
48	MLKL	Mixed Lineage Kinase Domain Like Pseudokinase	Protein Coding	6.22	DISEASES inferred ¹⁴
49	ANKRD49	Ankyrin Repeat Domain 49	Protein Coding	6.19	DISEASES inferred ¹⁴
50	FOXP3	Forkhead Box P3	Protein Coding	6.17	DISEASES inferred ¹⁴

Sources

Variations for Autoimmune Lymphoproliferative Syndrome

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

⁵ (show top 50) (show all 378)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	FAS	NM_000043.6(FAS):c.232del (p.Asp78fs)	DEL	Pathogenic	16497	rs606231361	GRCh37: 10:90767489-90767489 GRCh38: 10:89007732-89007732
2	FAS	NM_000043.6(FAS):c.334+2dup	DUP	Pathogenic	16498	rs606231362	GRCh37: 10:90767595-90767596 GRCh38: 10:89007838-89007839
3	FAS	NM_000043.6(FAS):c.721A>C (p.Thr241Pro)	SNV	Pathogenic	16499	rs121913076	GRCh37: 10:90773920-90773920 GRCh38: 10:89014163-89014163
4	FAS	NM_000043.6(FAS):c.569-2A>C	SNV	Pathogenic	16500	rs606231363	GRCh37: 10:90771754-90771754 GRCh38: 10:89011997-89011997
5	FAS	NM_000043.6(FAS):c.361C>T (p.Arg121Trp)	SNV	Pathogenic	16502	rs121913078	GRCh37: 10:90768672-90768672 GRCh38: 10:89008915-89008915
6	FAS	NM_000043.6(FAS):c.779A>T (p.Asp260Val)	SNV	Pathogenic	16504	rs28929498	GRCh37: 10:90773978-90773978 GRCh38: 10:89014221-89014221
7	FAS	NM_000043.6(FAS):c.809C>T (p.Thr270Ile)	SNV	Pathogenic Uncertain Significance	16506	rs121913081	GRCh37: 10:90774008-90774008 GRCh38: 10:89014251-89014251
8	FAS	NM_000043.6(FAS):c.651+2T>A	SNV	Pathogenic	16507	rs267607122	GRCh37: 10:90771840-90771840 GRCh38: 10:89012083-89012083
9	FAS	NM_000043.6(FAS):c.73G>A (p.Ala25Thr)	SNV	Pathogenic	16508	rs606231364	GRCh37: 10:90762828-90762828 GRCh38: 10:89003071-89003071
10	FAS	NM_000043.6(FAS):c.968_987dup (p.Glu330fs)	DUP	Pathogenic	16509	rs606231365	GRCh37: 10:90774166-90774167 GRCh38: 10:89014409-89014410
11	FAS	NM_000043.6(FAS):c.740G>C (p.Gly247Ala)	SNV	Pathogenic	16513	rs121913085	GRCh37: 10:90773939-90773939 GRCh38: 10:89014182-89014182
12	FAS	NM_000043.6(FAS):c.692_693insT (p.Lys231fs)	INSERT	Pathogenic	16515	rs606231366	GRCh37: 10:90773891-90773892 GRCh38: 10:89014134-89014135
13	FAS	NM_000043.6(FAS):c.778G>T (p.Asp260Tyr)	SNV	Pathogenic	16516	rs121913086	GRCh37: 10:90773977-90773977 GRCh38: 10:89014220-89014220
14	FAS	NM_000043.6(FAS):c.652-1G>A	SNV	Pathogenic	664079	rs1589488463	GRCh37: 10:90773099-90773099 GRCh38: 10:89013342-89013342
15	FAS	NM_000043.6(FAS):c.657_658del (p.Val220fs)	DEL	Pathogenic	692047	rs1589488494	GRCh37: 10:90773105-90773106 GRCh38: 10:89013348-89013349
16	FAS	NM_000043.6(FAS):c.178del (p.His60fs)	DEL	Pathogenic	802617	rs1589465172	GRCh37: 10:90762932-90762932 GRCh38: 10:89003175-89003175
17	FAS	NM_000043.6(FAS):c.415del (p.Val139fs)	DEL	Pathogenic	802618	rs1589478691	GRCh37: 10:90768726-90768726 GRCh38: 10:89008969-89008969
18	FAS	NM_000043.6(FAS):c.651+2_651+3insTGAAAT	INSERT	Pathogenic	802619	rs1589485636	GRCh37: 10:90771839-90771840 GRCh38: 10:89012082-89012083
19	FAS	NM_000043.6(FAS):c.563_566del (p.Val188fs)	DEL	Pathogenic	861416	rs1207744817	GRCh37: 10:90770564-90770567 GRCh38: 10:89010807-89010810
20	FAS	NM_000043.6(FAS):c.816del (p.Glu272fs)	DEL	Pathogenic	1357498		GRCh37: 10:90774014-90774014 GRCh38: 10:89014257-89014257
21	FAS	NM_000043.6(FAS):c.182_183insTTAT (p.Lys61fs)	INSERT	Pathogenic	1413808		GRCh37: 10:90762937-90762938 GRCh38: 10:89003180-89003181
22	overlap with 24 genes	NC_000001.10:g.(?_171605065)_(173962123_?)del	DEL	Pathogenic	1367461		GRCh37: 1:171605065-173962123 GRCh38:
23	FASLG	NM_000639.3(FASLG):c.343C>T (p.Arg115Ter)	SNV	Pathogenic	1428184		GRCh37: 1:172628684-172628684 GRCh38: 1:172659544-172659544
24	FAS	NM_000043.6(FAS):c.312dup (p.Arg105Ter)	DUP	Pathogenic	1443489		GRCh37: 10:90767571-90767572 GRCh38: 10:89007814-89007815
25	FAS	NM_000043.6(FAS):c.259G>T (p.Glu87Ter)	SNV	Pathogenic	1451181		GRCh37: 10:90767519-90767519 GRCh38: 10:89007762-89007762
26	FAS	NM_000043.6(FAS):c.38del (p.Thr13fs)	DEL	Pathogenic	851315	rs1842954041	GRCh37: 10:90762793-90762793 GRCh38: 10:89003036-89003036
27	FAS	NM_000043.6(FAS):c.676+1G>T	SNV	Pathogenic	1070181		GRCh37: 10:90773125-90773125 GRCh38: 10:89013368-89013368
28	FAS	NM_000043.6(FAS):c.442A>T (p.Lys148Ter)	SNV	Pathogenic	1070958		GRCh37: 10:90768753-90768753 GRCh38: 10:89008996-89008996
29	FAS	NM_000043.6(FAS):c.651+2T>C	SNV	Pathogenic Pathogenic	16514	rs267607122	GRCh37: 10:90771840-90771840 GRCh38: 10:89012083-89012083
30	FAS	NM_000043.6(FAS):c.110T>A (p.Leu37Ter)	SNV	Pathogenic	580709	rs1564686301	GRCh37: 10:90762865-90762865 GRCh38: 10:89003108-89003108
31	FAS	NM_000043.6(FAS):c.676+1G>A	SNV	Pathogenic	645697	rs1589488640	GRCh37: 10:90773125-90773125 GRCh38: 10:89013368-89013368
32	FAS	NM_000043.6(FAS):c.403del (p.Cys135fs)	DEL	Pathogenic	1455090		GRCh37: 10:90768708-90768708 GRCh38: 10:89008951-89008951
33	FAS	NM_000043.6(FAS):c.749G>A (p.Arg250Gln)	SNV	Pathogenic	1070182		GRCh37: 10:90773948-90773948 GRCh38: 10:89014191-89014191
34	FAS	NM_000043.6(FAS):c.817C>T (p.Gln273Ter)	SNV	Pathogenic Pathogenic	16501	rs121913077	GRCh37: 10:90774016-90774016 GRCh38: 10:89014259-89014259
35	FAS	NM_000043.6(FAS):c.695A>G (p.Tyr232Cys)	SNV	Pathogenic Uncertain Significance	16503	rs121913079	GRCh37: 10:90773894-90773894 GRCh38: 10:89014137-89014137
36	FAS	NM_000043.6(FAS):c.749G>C (p.Arg250Pro)	SNV	Pathogenic Pathogenic	16505	rs121913080	GRCh37: 10:90773948-90773948 GRCh38: 10:89014191-89014191
37	FAS	NM_000043.6(FAS):c.651+1G>T	SNV	Pathogenic	650729	rs1564696849	GRCh37: 10:90771839-90771839 GRCh38: 10:89012082-89012082
38	FAS	NM_000043.6(FAS):c.755del (p.Asn252fs)	DEL	Pathogenic	578533	rs1564699214	GRCh37: 10:90773953-90773953 GRCh38: 10:89014196-89014196
39	FAS	NM_000043.6(FAS):c.617del (p.Asn206fs)	DEL	Pathogenic	847065	rs1848558128	GRCh37: 10:90771801-90771801 GRCh38: 10:89012044-89012044
40	FAS	NM_000043.6(FAS):c.879_880del (p.Leu294fs)	DEL	Pathogenic	265400	rs886039524	GRCh37: 10:90774078-90774079 GRCh38: 10:89014321-89014322
41	FAS	NM_000043.6(FAS):c.644T>A (p.Leu215Ter)	SNV	Pathogenic	1071139		GRCh37: 10:90771831-90771831 GRCh38: 10:89012074-89012074
42	FAS	NM_000043.6(FAS):c.657del (p.Val220fs)	DEL	Pathogenic	1074734		GRCh37: 10:90773105-90773105 GRCh38: 10:89013348-89013348
43	FAS	NM_000043.6(FAS):c.707_708insG (p.Ile236fs)	INSERT	Pathogenic	1373595		GRCh37: 10:90773906-90773907 GRCh38: 10:89014149-89014150
44	FAS	NM_000043.6(FAS):c.46_47del (p.Val15_Ala16insTer)	DEL	Pathogenic	872242	rs1848019699	GRCh37: 10:90762801-90762802 GRCh38: 10:89003044-89003045
45	FAS	NM_000043.6(FAS):c.528G>A (p.Trp176Ter)	SNV	Pathogenic	1457614		GRCh37: 10:90770532-90770532 GRCh38: 10:89010775-89010775
46	FAS	NM_000043.6(FAS):c.332A>G (p.His111Arg)	SNV	Pathogenic	1395111		GRCh37: 10:90767592-90767592 GRCh38: 10:89007835-89007835
47	overlap with 5 genes	NC_000010.11:g.(?_88989499)_(89247668_?)del	DEL	Pathogenic	831277		GRCh37: 10:90749256-91007425 GRCh38:
48	overlap with 11 genes	NC_000010.11:g.(?_88770845)_(89328078_?)del	DEL	Pathogenic	832890		GRCh37: 10:90530602-91087835 GRCh38:
49	ACTA2 and overlap with 1 gene(s)	NC_000010.10:g.(?_90749963)_(90750683_?)del	DEL	Pathogenic	1459384		GRCh37: 10:90749963-90750683 GRCh38:
50	FASLG	NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del)	DEL	Pathogenic Not Provided	16495	rs80358236	GRCh37: 1:172634782-172634865 GRCh38: 1:172665642-172665725

UniProtKB/Swiss-Prot genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

⁷³ (show all 23)

#	Symbol	AA change	Variation ID	SNP ID
1	FAS	p.Thr28Ala	VAR_013417
2	FAS	p.Cys82Arg	VAR_013418
3	FAS	p.Arg121Trp	VAR_013419	rs121913078
4	FAS	p.Tyr232Cys	VAR_013423	rs121913079
5	FAS	p.Thr241Lys	VAR_013424	rs201072885
6	FAS	p.Thr241Pro	VAR_013425	rs121913076
7	FAS	p.Arg250Pro	VAR_013426	rs121913080
8	FAS	p.Arg250Gln	VAR_013427
9	FAS	p.Ala257Asp	VAR_013428
10	FAS	p.Asp260Gly	VAR_013429
11	FAS	p.Asp260Tyr	VAR_013430	rs121913086
12	FAS	p.Asp260Val	VAR_013431	rs28929498
13	FAS	p.Thr270Ile	VAR_013433	rs121913081
14	FAS	p.Glu272Gly	VAR_013434
15	FAS	p.Glu272Lys	VAR_013435
16	FAS	p.Ile310Ser	VAR_013438
17	FAS	p.Ile262Ser	VAR_058910
18	FAS	p.Val249Leu	VAR_065128
19	FAS	p.Gly253Asp	VAR_065129
20	FAS	p.Gly253Ser	VAR_065130
21	FAS	p.Ile259Arg	VAR_065131
22	FAS	p.Thr270Lys	VAR_065132
23	FASLG	p.Cys202Ser	VAR_075568

Sources

Expression for Autoimmune Lymphoproliferative Syndrome

Search GEO for disease gene expression data for Autoimmune Lymphoproliferative Syndrome.

Sources

Pathways for Autoimmune Lymphoproliferative Syndrome

Pathways related to Autoimmune Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 54)

#	Super pathways	Score	Top Affiliating Genes
1	Apoptotic Pathways in Synovial Fibroblasts ⁶⁴ Show member pathways Actin-Based Motility by Rho Family GTPases ⁶⁴ Cellular Apoptosis Pathway ⁶⁴ DHA Signaling ⁶⁴ eIF2 Pathway ⁶⁴ ERK5 Signaling ⁶⁴ Glioma Invasiveness ⁶⁴ Mitochondrial Apoptosis ⁶⁴ Nuclear Receptor Activation by Vitamin-A ⁶⁴ p53 Mediated Apoptosis ⁶⁴ PPAR Pathway ⁶⁴ Rac1 Pathway ⁶⁴ Rap1 Pathway ⁶⁴ Telomerase Components in Cell Signaling ⁶⁴	13.83	PRKCD NRAS FASLG FAS FADD CASP8
2	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.79	ACTA2 BCL2L11 CASP10 CASP8 FADD FAS
3	Signal Transduction ⁶⁶	13.75	ACTA2 BCL2L11 CASP10 CASP8 FADD FAS
4	MIF Mediated Glucocorticoid Regulation ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ Overview of proinflammatory and profibrotic mediators ⁷⁴ PEDF Induced Signaling ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.62	STAT3 PRKCD NRAS IL10 FASLG FAS
5	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.43	STAT3 PRKCD NRAS ITK IL10 FASLG
6	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.41	UNC13D TNFAIP3 STAT3 RASGRP1 PTPRC PRKCD
7	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.32	STAT3 PRKCD NRAS IL10 FASLG CASP8
8	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.3	PTPRC PRKCD NRAS IL10 FASLG FAS
9	p75 NTR receptor-mediated signalling ⁶⁶ Show member pathways Axonal growth inhibition (RHOA activation) ⁶⁶ Axonal growth stimulation ⁶⁶ Cell death signalling via NRAGE, NRIF and NADE ⁶⁶ Death Receptor Signaling ⁶⁶ G alpha (12/13) signalling events ⁶⁶ NADE modulates death signalling ⁶⁶ NF-kB is activated and signals survival ⁶⁶ NRAGE signals death through JNK ⁶⁶ NRIF signals cell death from the nucleus ⁶⁶ p75NTR negatively regulates cell cycle via SC1 ⁶⁶ p75NTR recruits signalling complexes ⁶⁶ p75NTR regulates axonogenesis ⁶⁶ p75NTR signals via NF-kB ⁶⁶ Regulated proteolysis of p75NTR ⁶⁶	12.91	TNFAIP3 FASLG FAS FADD CASP8 CASP10
10	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.89	STAT3 RASGRP1 PTPRC PRKCD NRAS ITK
11	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ⁷⁴	12.87	STAT3 PRKCD NRAS ITK FASLG FAS
12	Toll-like receptor signaling pathway ⁷⁴ Show member pathways Hepatitis B infection ⁷⁴ Measles virus infection ⁷⁴ Regulation of toll-like receptor signaling pathway ⁷⁴	12.81	TNFAIP3 STAT3 NRAS FASLG FAS FADD
13	fMLP Pathway ⁶⁴ Show member pathways CXCR4 Pathway ⁶⁴ Huntington's Disease Pathway ⁶⁴ Internalin Pathway ⁶⁴ Signal transduction Activation of PKC via G-Protein coupled receptor ²²	12.76	STAT3 PRKCD NRAS CASP8 ACTA2
14	Endometrial cancer ⁷⁴ Show member pathways Chromosomal and microsatellite instability in colorectal cancer ⁷⁴ Melanoma ⁷⁴ Non-small cell lung cancer ⁷⁴ Pancreatic adenocarcinoma pathway ⁷⁴ Signal transduction PTEN pathway ²²	12.71	STAT3 PRKCD NRAS CASP8 BCL2L11
15	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.7	TNFAIP3 STAT3 PRKCD NRAS FASLG FAS
16	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	12.67	STAT3 PTPRC PRKCD NRAS IL10 FADD
17	Programmed Cell Death ⁶⁶ Show member pathways Apoptosis ⁶⁶	12.66	STAT3 PRKCD FASLG FAS FADD CASP8
18	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ SREBP Proteolysis ⁶⁴	12.64	FASLG FAS FADD CASP8 CASP10 BCL2L11
19	TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ TNFs bind their physiological receptors ⁶⁶ TRAF Pathway ⁶⁴	12.63	TNFAIP3 PRKCD FASLG FAS FADD CASP8
20	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ⁶¹	12.53	STAT3 PRKCD NRAS CASP8 CASP10
21	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways Arrhythmogenic right ventricular cardiomyopathy ⁷⁴ BMP Pathway ⁶⁴ Calpain Protease Regulates Cellular Mechanics ⁶⁴ Caspase Cascade ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ Presynaptic depolarization and calcium channel opening ⁶⁶ TOB in Osteoblast Signaling ⁶⁴	12.48	STAT3 PRF1 NRAS FASLG FAS FADD
22	DDX58/IFIH1-mediated induction of interferon-alpha/beta ⁶⁶ Show member pathways Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway ²² Negative regulators of DDX58/IFIH1 signaling ⁶⁶ NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 ⁶⁶ Novel intracellular components of RIG-I-like receptor pathway ⁷⁴ SARS-CoV-2 B.1.1.7 variant antagonises innate immune activation ⁷⁴ TRAF3-dependent IRF activation pathway ⁶⁶ TRAF6 mediated IRF7 activation ⁶⁶	12.44	TNFAIP3 FADD CASP8 CASP10
23	MAPK signaling pathway ⁷⁴	12.44	RASGRP1 PRKCD NRAS FASLG FAS
24	NF-kappaB Pathway ⁷⁰ Show member pathways Akt Pathway ⁷⁰ Apoptosis Pathway ⁷⁰	12.42	PRKCD NRAS CASP8 CASP10
25	Death Receptor Signaling ⁶⁷ Show member pathways Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathway ⁶⁵ SARS-CoV-1-mediated effects on programmed cell death ⁶⁶ TNF Signaling ⁶⁷	12.4	FASLG FAS FADD CASP8 CASP10
26	NF-kappaB Signaling ³	12.37	CTLA4 FAS FASLG IL10 ITK PTPRC
27	Apoptosis and survival FAS signaling cascades ²² Show member pathways Apoptosis and survival Caspase cascade ²² Breakdown of the nuclear lamina ⁶⁶ Caspase Cascade in Apoptosis ⁶¹ Fas ligand pathway and stress induction of heat shock proteins ⁷⁴ Fas Signaling ⁶⁴	12.33	CASP10 CASP8 FADD FAS FASLG PRF1
28	Apoptosis and Autophagy ³ Show member pathways Activation and oligomerization of BAK protein ⁶⁶ AIF Pathway ⁶⁴ Nanomaterial induced apoptosis ⁷⁴ Pro-survival signaling of neuroprotectin D1 ⁷⁴ vRNA Synthesis ⁶⁶	12.33	BCL2L11 CASP8 FADD FAS FASLG PRF1
29	IL-17 Family Signaling Pathways ⁶⁵ Show member pathways IL17 signaling pathway ⁶⁷ IL-17 signaling pathway ⁷⁴ Mucin expression in CF via IL-6, IL-17 signaling pathways ²²	12.28	STAT3 FADD CASP8 CASP10
30	CD28 Signaling in T-Helper Cell ⁶⁴ Show member pathways ICos-ICosL Pathway in T-Helper Cell ⁶⁴	12.26	PTPRC ITK CTLA4 ACTA2
31	p53 Signaling ⁶⁴ Show member pathways p53 Pathway ⁶⁷	12.21	FASLG FAS CASP8 CASP10
32	Regulation by c-FLIP ⁶⁶ Show member pathways CASP8 activity is inhibited ⁶⁶ Caspase activation via Death Receptors in the presence of ligand ⁶⁶ Caspase activation via Dependence Receptors in the absence of ligand ⁶⁶ Caspase activation via extrinsic apoptotic signalling pathway ⁶⁶ Dimerization of procaspase-8 ⁶⁶ FAS (CD95) signaling pathway ⁶¹ FasL/ CD95L signaling ⁶⁶ TRAIL signaling ⁶⁶ TRAIL signaling pathway ⁶¹	12.2	CASP10 CASP8 FADD FAS FASLG
33	RIPK1-mediated regulated necrosis ⁶⁶ Show member pathways Defective RIPK1-mediated regulated necrosis ⁶⁶ Microbial modulation of RIPK1-mediated regulated necrosis ⁶⁶ Pyroptosis ⁶⁶ Regulated Necrosis ⁶⁶ Regulation of necroptotic cell death ⁶⁶	12.19	FASLG FAS FADD CASP8
34	T-cell activation SARS-CoV-2 ⁷⁴ Show member pathways T-cell antigen receptor (TCR) pathway during Staphylococcus aureus infection ⁷⁴	12.18	RASGRP1 PTPRC ITK IL10 CTLA4
35	TNFR1 Pathway ⁶⁴ Show member pathways Apoptosis ⁷⁴ Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis modulation by HSP70 ⁷⁴ Apoptosis through Death Receptors ⁶⁴ Apoptotic Pathways Triggered By HIV1 ⁶⁴ Ceramide signaling pathway ⁶¹ DR3 Signaling ⁶⁴ GITR Pathway ⁶⁴ HIV-1 Nef: Negative effector of Fas and TNF-alpha ⁶¹ Stimulation of the cell death response by PAK-2p34 ⁶⁶ TNF Signaling ⁶⁴ TNF-related weak inducer of apoptosis (TWEAK) signaling pathway ⁷⁴ TRAIL Pathway ⁶⁴ TWEAK Pathway ⁶⁴	12.12	TNFAIP3 PTPRC PRKCD PRF1 FASLG FAS
36	Ceramide Pathway ⁶⁴ Show member pathways TNF-Induced Apoptosis Implicating Sphingolipids ⁶⁴	12.06	PRKCD NRAS FADD CASP8 CASP10
37	S-1P Stimulated Signaling ⁶⁴	11.95	RASGRP1 NRAS CASP8 CASP10
38	Interleukin-4 and Interleukin-13 signaling ⁶⁶	11.93	STAT3 IL10 FASLG
39	DNA damage response (only ATM dependent) ⁷⁴	11.9	NRAS FASLG BCL2L11
40	VEGF Pathway (Tocris) ⁷⁰ Show member pathways Sorafenib Pharmacodynamics ⁶⁰	11.84	CASP10 CASP8 NRAS PRKCD
41	CCL18 signaling pathway ⁷⁴	11.83	STAT3 PRKCD NRAS IL10 CASP8 ACTA2
42	Allograft rejection ⁷⁴	11.77	PRF1 IL10 FASLG FAS CTLA4 CASP8
43	Head and neck squamous cell carcinoma ⁷⁴	11.74	NRAS FADD CASP8
44	IL-18 signaling pathway ⁷⁴	11.59	PRKCD FASLG FAS CASP8
45	SARS-CoV-2 innate immunity evasion and cell-specific immune response ⁷⁴	11.56	IL10 FADD CASP8
46	THC Differentiation Pathway ⁶⁴	11.56	RASGRP1 PTPRC ITK IL10
47	Nonalcoholic fatty liver disease ⁷⁴	11.55	FASLG FAS CASP8 BCL2L11
48	Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins ²²	11.39	BCL2L11 CASP8 FAS
49	IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵ Show member pathways IL-2 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵	11.39	IL10 FASLG FAS
50	CTL Mediated Apoptosis ⁶⁴	11.38	PRF1 FASLG FAS FADD CASP8

Sources

GO Terms for Autoimmune Lymphoproliferative Syndrome

Cellular components related to Autoimmune Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane raft	GO:0045121	9.91	PTPRC FASLG FAS FADD CASP8
2	death-inducing signaling complex	GO:0031264	9.63	FAS FADD CASP8
3	ripoptosome	GO:0097342	9.43	FADD CASP8 CASP10
4	CD95 death-inducing signaling complex	GO:0031265	9.23	FAS FADD CASP8 CASP10

Biological processes related to Autoimmune Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	10.46	STAT3 RASGRP1 PRKCD NRAS ITK IL10
2	positive regulation of apoptotic process	GO:0043065	10.15	BCL2L11 CASP8 CTLA4 FADD FAS FASLG
3	regulation of apoptotic process	GO:0042981	10.06	FAS FADD CASP8 CASP10 BCL2L11
4	positive regulation of tumor necrosis factor production	GO:0032760	10.03	STAT3 RASGRP1 PTPRC FADD
5	apoptotic signaling pathway	GO:0097190	10.01	FASLG FADD CASP8 CASP10
6	extrinsic apoptotic signaling pathway via death domain receptors	GO:0008625	9.97	FASLG FADD CASP8
7	extrinsic apoptotic signaling pathway in absence of ligand	GO:0097192	9.95	BCL2L11 FADD FAS
8	T cell activation	GO:0042110	9.92	RASGRP1 PTPRC ITK CASP8
9	apoptotic process	GO:0006915	9.91	BCL2L11 CASP10 CASP8 FADD FAS FASLG
10	B cell proliferation	GO:0042100	9.86	RASGRP1 PTPRC PRKCD IL10
11	TRAIL-activated apoptotic signaling pathway	GO:0036462	9.83	FADD CASP8
12	necroptotic signaling pathway	GO:0097527	9.63	FASLG FAS FADD
13	extrinsic apoptotic signaling pathway	GO:0097191	9.32	PTPRC FASLG FAS FADD CASP8

Molecular functions related to Autoimmune Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein kinase binding	GO:0019901	10.03	STAT3 PTPRC PRKCD LRBA BCL2L11 ACTA2
2	tumor necrosis factor receptor binding	GO:0005164	9.63	FASLG FADD CASP8
3	death receptor binding	GO:0005123	9.43	FASLG FADD CASP8
4	death effector domain binding	GO:0035877	9.1	FADD CASP8 CASP10