MCID: ATM006
MIFTS: 70

Autoimmune Lymphoproliferative Syndrome

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases, Gastrointestinal diseases

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome:

Name: Autoimmune Lymphoproliferative Syndrome 57 12 24 53 25 59 29 55 6 44 15 40 73
Canale-Smith Syndrome 57 12 53 25 59 75
Alps 57 12 24 53 25 59
Autoimmune Lymphoproliferative Syndrome, Type Ia 57 13 73
Autoimmune Lymphoproliferative Syndrome, Type Ib 57 73
Autoimmune Lymphoproliferative Syndrome, Type 1b 29 6
Autoimmune Lymphoproliferative Syndrome, Type 1a 29 6
Fas Deficiency 53 59
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant 57
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant 53
Autoimmune Lymphoproliferative Syndrome Type Ia 75
Autoimmune Lymphoproliferative Syndrome Type Ib 75
Autoimmune Lymphoproliferative Syndrome 1a 75
Autoimmune Lymphoproliferative Syndrome 1b 75
Autoimmune Lymphoproliferative Syndromes 37
Alps1a 75
Alps1b 75
Css 75

Characteristics:

Orphanet epidemiological data:

59
autoimmune lymphoproliferative syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
recessive inheritance has been reported


HPO:

32
autoimmune lymphoproliferative syndrome:
Inheritance autosomal dominant inheritance


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:



External Ids:

OMIM 57 601859
Disease Ontology 12 DOID:6688
ICD10 33 D47.9 D89.82
ICD9CM 35 279.41
MeSH 44 D056735
NCIt 50 C37864
SNOMED-CT 68 702444009
Orphanet 59 ORPHA3261
MESH via Orphanet 45 D056735
UMLS via Orphanet 74 C1328840
ICD10 via Orphanet 34 D47.9
KEGG 37 H00108

Summaries for Autoimmune Lymphoproliferative Syndrome

NIH Rare Diseases : 53 Autoimmune lymphoproliferative syndrome (ALPS) is a disorder in which the body cannot properly regulate the number of immune systemcells (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. Other signs and 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 mutations in the FAS gene in about 75% of 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 mutation 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 mutation. Treatment may include steroids or other medications, blood transfusions, and/or splenectomy depending on the severity of the disorder.

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, also known as canale-smith syndrome, is related to autoimmune lymphoproliferative syndrome, type iii and chronic active epstein-barr virus infection. An important gene associated with Autoimmune Lymphoproliferative Syndrome is FASLG (Fas Ligand), and among its related pathways/superpathways are Apoptosis and Signaling by GPCR. The drugs Valproic Acid and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include lymph node, spleen and liver, and related phenotypes are urticaria and splenomegaly

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)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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).

Disease Ontology : 12 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.

Wikipedia : 76 Autoimmune lymphoproliferative syndrome (ALPS), also known as Canale-Smith syndrome, is a form of... more...

GeneReviews: NBK1108

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 Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency Autosomal Recessive Lymphoproliferative Disease

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

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome, type iii 35.2 CASP10 FASLG PRKCD
2 chronic active epstein-barr virus infection 30.0 CTLA4 IL10 IL2
3 uveitis 30.0 CTLA4 IL10 IL2RA
4 hemophagocytic lymphohistiocytosis 29.5 FAS IL10 IL2RA PRF1 UNC13D
5 lymphoproliferative syndrome 29.1 CASP10 CASP8 CTLA4 FAS FASLG IL2
6 autoimmune disease 28.7 CTLA4 FAS IL10 IL2 IL2RA STAT3
7 common variable immunodeficiency 28.6 CTLA4 FAS IL10 IL2 IL2RA LRBA
8 lymphoma, non-hodgkin, familial 28.0 CASP10 CASP8 FAS IL2 IL2RA NRAS
9 autoimmune lymphoproliferative syndrome, type iia 12.6
10 autoimmune lymphoproliferative syndrome, type v 12.6
11 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 12.2
12 caspase 8 deficiency 12.0
13 ras-associated autoimmune leukoproliferative disorder 12.0
14 eosinophilic granulomatosis with polyangiitis 11.5
15 churg-strauss syndrome 11.3
16 allergic angiitis 11.3
17 dianzani autoimmune lymphoproliferative disease 11.3
18 coffin-siris syndrome 1 11.2
19 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 11.0
20 lrba deficiency 10.8 CTLA4 LRBA
21 giant congenital nevus 10.7 HRAS NRAS
22 epstein-barr virus-associated gastric carcinoma 10.7 FAS FASLG IL10
23 type ii mixed cryoglobulinemia 10.7 FAS FASLG
24 pneumoconiosis 10.7 CASP8 FAS FASLG
25 lymphocytic gastritis 10.6 FAS FASLG
26 post-transplant lymphoproliferative disease 10.6 CASP8 FADD IL10
27 hyperlucent lung 10.6 IL10 IL2RA
28 malignant skin fibrous histiocytoma 10.5 CTLA4 HRAS NRAS
29 malignant dermis tumor 10.5 CTLA4 HRAS NRAS
30 idiopathic neutropenia 10.5 FASLG IL10 IL2RA
31 benign struma ovarii 10.5 HRAS NRAS
32 primary sjögren syndrome 10.5 FAS IL10 IL2RA
33 vogt-koyanagi-harada disease 10.5 FAS IL10 IL2RA
34 large granular lymphocyte leukemia 10.4 IL2RA STAT3
35 hypersensitivity reaction type iv disease 10.4 CASP10 FAS IL2
36 schimmelpenning-feuerstein-mims syndrome 10.4 HRAS NRAS
37 graves' disease 10.4 CTLA4 FAS FASLG IL2RA
38 chronic mucocutaneous candidiasis 10.3 IL10 IL2RA STAT3
39 t-cell large granular lymphocyte leukemia 10.3 FASLG IL2 STAT3
40 thyroiditis 10.3 CTLA4 FASLG IL2
41 hematopoietic stem cell transplantation 10.3 CTLA4 IL10 IL2
42 paracoccidioidomycosis 10.3 CTLA4 IL10 IL2
43 filariasis 10.2 CTLA4 IL10 IL2
44 lymphoma 10.2
45 b-cell expansion with nfkb and t-cell anergy 10.2 FASLG IL2 IL2RA
46 hypersensitivity reaction disease 10.2 CTLA4 IL10 IL2
47 graft-versus-host disease 10.1 FAS FASLG IL10 IL2
48 intermediate uveitis 10.1 IL10 IL2 IL2RA
49 t cell deficiency 10.1 IL2 LRBA PTPRC
50 immune system disease 10.1 CTLA4 IL10 IL2

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



Diseases related to Autoimmune Lymphoproliferative Syndrome

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

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

Immunology:
chronic noninfectious lymphadenopathy
defective lymphocyte apoptosis
increased number of peripheral cd3+ t cells
increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors
increased proportion of hla dr+ and cd57+ t cells
more
Neoplasia:
increased risk of malignant lymphoma

Abdomen Liver:
hepatomegaly

Skin Nails Hair Skin:
urticaria
vasculitis rash

Laboratory Abnormalities:
rheumatoid factor positive
increased levels of igg
increased levels of iga
increased levels of igm
direct coombs positive
more

Clinical features from OMIM:

601859

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 urticaria 32 HP:0001025
2 splenomegaly 32 HP:0001744
3 eosinophilia 32 HP:0001880
4 autoimmune hemolytic anemia 32 HP:0001890
5 iron deficiency anemia 32 HP:0001891
6 autoimmune neutropenia 32 HP:0001904
7 autoimmune thrombocytopenia 32 HP:0001973
8 hepatomegaly 32 HP:0002240
9 vasculitis 32 HP:0002633
10 follicular hyperplasia 32 HP:0002729
11 chronic noninfectious lymphadenopathy 32 HP:0002730
12 decreased lymphocyte apoptosis 32 HP:0002731
13 elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 32 HP:0002851
14 increased proportion of hla dr+ t cells 32 HP:0002853
15 rheumatoid factor positive 32 HP:0002923
16 reduced delayed hypersensitivity 32 HP:0002972
17 increased igg level 32 HP:0003237
18 increased iga level 32 HP:0003261
19 smooth muscle antibody positivity 32 HP:0003262
20 antineutrophil antibody positivity 32 HP:0003453
21 platelet antibody positive 32 HP:0003454
22 antinuclear antibody positivity 32 HP:0003493
23 increased igm level 32 HP:0003496
24 antiphospholipid antibody positivity 32 HP:0003613
25 coombs-positive hemolytic anemia 32 HP:0004844

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.84 CASP8 FADD FAS IL10 IL2 BCL2L11
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.84 BCL2L11 CASP8 FADD FAS IL10 IL2
3 Reduced mammosphere formation GR00396-S 9.56 FADD FAS FASLG HRAS IL2RA NRAS

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.45 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
2 hematopoietic system MP:0005397 10.45 IL2 IL2RA LRBA NRAS PRF1 PRKCD
3 homeostasis/metabolism MP:0005376 10.44 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
4 cardiovascular system MP:0005385 10.42 FASLG HRAS IL10 IL2 BCL2L11 CASP8
5 immune system MP:0005387 10.42 FASLG IL10 IL2 IL2RA LRBA BCL2L11
6 cellular MP:0005384 10.38 BCL2L11 CASP8 FADD FAS FASLG IL10
7 growth/size/body region MP:0005378 10.38 STAT3 TNFAIP3 BCL2L11 CASP8 FADD FAS
8 digestive/alimentary MP:0005381 10.34 IL10 IL2 IL2RA NRAS PTPRC STAT3
9 mortality/aging MP:0010768 10.34 IL2 IL2RA NRAS PRF1 PRKCD PTPRC
10 liver/biliary system MP:0005370 10.27 CASP8 CTLA4 FADD FAS FASLG IL10
11 integument MP:0010771 10.22 STAT3 TNFAIP3 BCL2L11 CASP8 CTLA4 FAS
12 nervous system MP:0003631 10.15 BCL2L11 CASP8 FADD FAS FASLG HRAS
13 neoplasm MP:0002006 10.14 BCL2L11 CASP8 FAS FASLG HRAS IL10
14 normal MP:0002873 9.96 HRAS IL10 NRAS PRF1 PTPRC STAT3
15 no phenotypic analysis MP:0003012 9.92 BCL2L11 FADD HRAS IL10 IL2 NRAS
16 renal/urinary system MP:0005367 9.81 BCL2L11 CASP8 FAS FASLG HRAS PRKCD
17 respiratory system MP:0005388 9.7 CASP8 CTLA4 FAS FASLG HRAS IL10
18 skeleton MP:0005390 9.4 CTLA4 FADD FAS FASLG HRAS IL10

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
4
Melphalan Approved Phase 2 148-82-3 4053 460612
5
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
6
Hydroxyurea Approved Phase 2 127-07-1 3657
7
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
8
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
10 Anticonvulsants Phase 1, Phase 2
11 Antimanic Agents Phase 1, Phase 2
12 Central Nervous System Depressants Phase 1, Phase 2
13 GABA Agents Phase 1, Phase 2
14 Neurotransmitter Agents Phase 1, Phase 2
15 Psychotropic Drugs Phase 1, Phase 2
16 Tranquilizing Agents Phase 1, Phase 2
17 Antimetabolites Phase 2
18 Anti-Infective Agents Phase 1, Phase 2
19 Alkylating Agents Phase 2
20 Antimetabolites, Antineoplastic Phase 2
21 Antineoplastic Agents, Alkylating Phase 2
22 Immunosuppressive Agents Phase 2,Phase 1
23 Nucleic Acid Synthesis Inhibitors Phase 2
24 Anti-Bacterial Agents Phase 1, Phase 2
25 Antibiotics, Antitubercular Phase 1, Phase 2
26 Antifungal Agents Phase 1, Phase 2
27
Levoleucovorin Approved, Investigational Phase 1 68538-85-2
28
Pyrimethamine Approved, Investigational, Vet_approved Phase 1 58-14-0 4993
29
Sulfadoxine Approved, Investigational Phase 1 2447-57-6 17134
30
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
31
leucovorin Approved, Nutraceutical Phase 1 58-05-9 143 6006
32 Antimalarials Phase 1
33 Antiparasitic Agents Phase 1
34 Antiprotozoal Agents Phase 1
35 Folic Acid Antagonists Phase 1
36 Vitamin B Complex Phase 1
37 Fanasil, pyrimethamine drug combination Phase 1
38 Renal Agents Phase 1
39 Folate Nutraceutical Phase 1
40 Vitamin B9 Nutraceutical Phase 1
41 Antiviral Agents
42 Deoxyglucose
43 Fluorodeoxyglucose F18
44 Radiopharmaceuticals
45 Antibodies
46 Autoantibodies
47 Immunoglobulin G
48 Immunoglobulins
49 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Valproic Acid (Depakote[Registered Trademark]) to Treat Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00605657 Phase 1, Phase 2 Valproic Acid
2 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
3 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
4 Sirolimus for Autoimmune Disease of Blood Cells Active, not recruiting NCT00392951 Phase 1, Phase 2 sirolimus
5 Pyrimethamine to Treat Autoimmune Lymphoproliferative Syndrome Completed NCT00065390 Phase 1 Pyrimethamine
6 Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome Completed NCT00013689 Phase 1 Fansidar (pyrimethamine and sulfadoxine)
7 Fluorodeoxyglucose-Positron Emission Tomography (FDG-PET) to Evaluate Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-associated Lymphoma Completed NCT00068146
8 Study of Autoimmune Lymphoproliferative Syndrome (ALPS) Recruiting NCT00001350
9 Comparative Autoantibody and Immunologic Cell Marker Study Enrolling by invitation NCT02422875
10 Fluorodeoxyglucose Imaging Studies to Detect Lymphoma Withdrawn NCT01672918

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome

Cochrane evidence based reviews: autoimmune lymphoproliferative syndrome

Genetic Tests for Autoimmune Lymphoproliferative Syndrome

Genetic tests related to Autoimmune Lymphoproliferative Syndrome:

# Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome 29 FAS FASLG
2 Autoimmune Lymphoproliferative Syndrome, Type 1b 29 FASLG
3 Autoimmune Lymphoproliferative Syndrome, Type 1a 29

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

41
Lymph Node, Spleen, Liver, T Cells, Kidney, Skin, Eye

Publications for Autoimmune Lymphoproliferative Syndrome

Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50) (show all 209)
# Title Authors Year
1
The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions. ( 29911256 )
2018
2
Possible Association of Multicentric Castleman's Disease with Autoimmune Lymphoproliferative Syndrome. ( 29682404 )
2018
3
Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection. ( 29480551 )
2018
4
Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear. ( 29903870 )
2018
5
Synergistic defects of novo FAS and homozygous UNC13D leading to autoimmune lymphoproliferative syndrome-like disease: A 10-year-old Chinese boy case report. ( 29864493 )
2018
6
Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation. ( 29686686 )
2018
7
Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. ( 29271561 )
2018
8
IgG4-related disease in autoimmune lymphoproliferative syndrome. ( 28478106 )
2017
9
TCF1 deficiency ameliorates autoimmune lymphoproliferative syndrome (ALPS)-like phenotypes of lpr/lpr mice. ( 28349581 )
2017
10
Lymphadenopathy driven by TCR-V<sub>I^</sub>8V<sub>I'</sub>1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome. ( 29296752 )
2017
11
Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients. ( 29345341 )
2017
12
RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. ( 29155103 )
2017
13
STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds. ( 28579554 )
2017
14
Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand. ( 28814155 )
2017
15
Pearls and pitfalls: Autoimmune lymphoproliferative syndrome and autoimmune lymphoproliferative syndrome-like disease. ( 28668112 )
2017
16
Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression. ( 28087326 )
2017
17
A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. ( 27770190 )
2017
18
Autoimmune Lymphoproliferative Syndrome Masquerading as Posttransplant Lymphoproliferative Disorder. ( 28991130 )
2017
19
Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome. ( 28668589 )
2017
20
Use of Sirolimus (Rapamycin) for Treatment of Cytopenias and Lymphoproliferation Linked to Autoimmune Lymphoproliferative Syndrome (ALPS). Two Case Reports. ( 28234735 )
2017
21
Autoimmune lymphoproliferative syndrome: more than a FAScinating disease. ( 29123652 )
2017
22
Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome. ( 27579193 )
2016
23
Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children. ( 27139496 )
2016
24
CORRIGENDUM to Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. ( 27940897 )
2016
25
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. ( 27789675 )
2016
26
Ocular Inflammatory Disorders in Autoimmune Lymphoproliferative Syndrome (ALPS). ( 27229379 )
2016
27
Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation. ( 27846610 )
2016
28
Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation. ( 27378136 )
2016
29
Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort. ( 27268092 )
2016
30
Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation. ( 26323380 )
2016
31
Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. ( 27845235 )
2016
32
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome. ( 26907631 )
2016
33
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. ( 27099149 )
2016
34
Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. ( 27837196 )
2016
35
Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS). ( 27060458 )
2016
36
Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient. ( 27979843 )
2016
37
Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. ( 26113417 )
2015
38
Decreased activation-induced cell death by EBV-transformed B cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. ( 26334989 )
2015
39
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. ( 25931386 )
2015
40
Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome. ( 26258116 )
2015
41
Janus Kinase Inhibitor Tofacitinib Shows Potent Efficacy in a Mouse Model of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 26453583 )
2015
42
FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome. ( 26563159 )
2015
43
Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. ( 26456038 )
2015
44
Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 25663566 )
2015
45
Adult onset autoimmune lymphoproliferative syndrome due to somatic FAS mutation. ( 25827517 )
2015
46
Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia. ( 25972287 )
2015
47
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. ( 26472737 )
2015
48
Autoimmune lymphoproliferative syndrome: an update and review of the literature. ( 25086580 )
2014
49
Autoimmune lymphoproliferative syndrome with neonatal onset. ( 24906264 )
2014
50
IL-10/Janus kinase/signal transducer and activator ofA transcription 3 signaling dysregulates Bim expression inA autoimmune lymphoproliferative syndrome. ( 25174872 )
2014

Variations for Autoimmune Lymphoproliferative Syndrome

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

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

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

6
(show top 50) (show all 358)
# Gene Variation Type Significance SNP ID Assembly Location
1 FASLG NM_000639.2(FASLG): c.472_555del84 (p.Met158_Glu185del) deletion Pathogenic rs80358236 GRCh37 Chromosome 1, 172634782: 172634865
2 FASLG NM_000639.2(FASLG): c.472_555del84 (p.Met158_Glu185del) deletion Pathogenic rs80358236 GRCh38 Chromosome 1, 172665642: 172665725
3 FAS NM_000043.5(FAS): c.232delG (p.Asp78Metfs) deletion Pathogenic rs606231361 GRCh38 Chromosome 10, 89007735: 89007735
4 FAS NM_000043.5(FAS): c.232delG (p.Asp78Metfs) deletion Pathogenic rs606231361 GRCh37 Chromosome 10, 90767492: 90767492
5 FAS NM_000043.5(FAS): c.334+2dupT duplication Pathogenic rs606231362 GRCh38 Chromosome 10, 89007839: 89007839
6 FAS NM_000043.5(FAS): c.334+2dupT duplication Pathogenic rs606231362 GRCh37 Chromosome 10, 90767596: 90767596
7 FAS NM_000043.5(FAS): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic rs121913076 GRCh37 Chromosome 10, 90773920: 90773920
8 FAS NM_000043.5(FAS): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic rs121913076 GRCh38 Chromosome 10, 89014163: 89014163
9 FAS NM_000043.5(FAS): c.569-2A> C single nucleotide variant Pathogenic rs606231363 GRCh38 Chromosome 10, 89011997: 89011997
10 FAS NM_000043.5(FAS): c.569-2A> C single nucleotide variant Pathogenic rs606231363 GRCh37 Chromosome 10, 90771754: 90771754
11 FAS NM_000043.5(FAS): c.817C> T (p.Gln273Ter) single nucleotide variant Pathogenic rs121913077 GRCh37 Chromosome 10, 90774016: 90774016
12 FAS NM_000043.5(FAS): c.817C> T (p.Gln273Ter) single nucleotide variant Pathogenic rs121913077 GRCh38 Chromosome 10, 89014259: 89014259
13 FAS NM_000043.5(FAS): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic rs121913078 GRCh37 Chromosome 10, 90768672: 90768672
14 FAS NM_000043.5(FAS): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic rs121913078 GRCh38 Chromosome 10, 89008915: 89008915
15 FAS NM_000043.5(FAS): c.695A> G (p.Tyr232Cys) single nucleotide variant Pathogenic rs121913079 GRCh37 Chromosome 10, 90773894: 90773894
16 FAS NM_000043.5(FAS): c.695A> G (p.Tyr232Cys) single nucleotide variant Pathogenic rs121913079 GRCh38 Chromosome 10, 89014137: 89014137
17 FAS NM_000043.5(FAS): c.779A> T (p.Asp260Val) single nucleotide variant Pathogenic rs28929498 GRCh37 Chromosome 10, 90773978: 90773978
18 FAS NM_000043.5(FAS): c.779A> T (p.Asp260Val) single nucleotide variant Pathogenic rs28929498 GRCh38 Chromosome 10, 89014221: 89014221
19 FAS NM_000043.5(FAS): c.749G> C (p.Arg250Pro) single nucleotide variant Likely pathogenic rs121913080 GRCh37 Chromosome 10, 90773948: 90773948
20 FAS NM_000043.5(FAS): c.749G> C (p.Arg250Pro) single nucleotide variant Likely pathogenic rs121913080 GRCh38 Chromosome 10, 89014191: 89014191
21 FAS NM_000043.5(FAS): c.809C> T (p.Thr270Ile) single nucleotide variant Pathogenic rs121913081 GRCh37 Chromosome 10, 90774008: 90774008
22 FAS NM_000043.5(FAS): c.809C> T (p.Thr270Ile) single nucleotide variant Pathogenic rs121913081 GRCh38 Chromosome 10, 89014251: 89014251
23 FAS NM_000043.5(FAS): c.651+2T> A single nucleotide variant Pathogenic rs267607122 GRCh37 Chromosome 10, 90771840: 90771840
24 FAS NM_000043.5(FAS): c.651+2T> A single nucleotide variant Pathogenic rs267607122 GRCh38 Chromosome 10, 89012083: 89012083
25 FAS NM_000043.5(FAS): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs606231364 GRCh38 Chromosome 10, 89003071: 89003071
26 FAS NM_000043.5(FAS): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs606231364 GRCh37 Chromosome 10, 90762828: 90762828
27 FAS NM_000043.5(FAS): c.968_987dup20 (p.Glu330Lysfs) duplication Pathogenic rs606231365 GRCh38 Chromosome 10, 89014410: 89014429
28 FAS NM_000043.5(FAS): c.968_987dup20 (p.Glu330Lysfs) duplication Pathogenic rs606231365 GRCh37 Chromosome 10, 90774167: 90774186
29 FAS NM_000043.5(FAS): c.740G> C (p.Gly247Ala) single nucleotide variant Pathogenic rs121913085 GRCh37 Chromosome 10, 90773939: 90773939
30 FAS NM_000043.5(FAS): c.740G> C (p.Gly247Ala) single nucleotide variant Pathogenic rs121913085 GRCh38 Chromosome 10, 89014182: 89014182
31 FAS NM_000043.5(FAS): c.651+2T> C single nucleotide variant Pathogenic rs267607122 GRCh37 Chromosome 10, 90771840: 90771840
32 FAS NM_000043.5(FAS): c.651+2T> C single nucleotide variant Pathogenic rs267607122 GRCh38 Chromosome 10, 89012083: 89012083
33 FAS NM_000043.5(FAS): c.692_693insT (p.Lys231Asnfs) insertion Pathogenic rs606231366 GRCh38 Chromosome 10, 89014134: 89014135
34 FAS NM_000043.5(FAS): c.692_693insT (p.Lys231Asnfs) insertion Pathogenic rs606231366 GRCh37 Chromosome 10, 90773891: 90773892
35 FAS NM_000043.5(FAS): c.778G> T (p.Asp260Tyr) single nucleotide variant Pathogenic rs121913086 GRCh37 Chromosome 10, 90773977: 90773977
36 FAS NM_000043.5(FAS): c.778G> T (p.Asp260Tyr) single nucleotide variant Pathogenic rs121913086 GRCh38 Chromosome 10, 89014220: 89014220
37 FASLG NM_000639.2(FASLG): c.466A> G (p.Arg156Gly) single nucleotide variant Pathogenic rs80358238 GRCh37 Chromosome 1, 172634776: 172634776
38 FASLG NM_000639.2(FASLG): c.466A> G (p.Arg156Gly) single nucleotide variant Pathogenic rs80358238 GRCh38 Chromosome 1, 172665636: 172665636
39 FAS NM_000043.5(FAS): c.183G> A (p.Lys61=) single nucleotide variant Conflicting interpretations of pathogenicity rs3218613 GRCh37 Chromosome 10, 90762938: 90762938
40 FAS NM_000043.5(FAS): c.183G> A (p.Lys61=) single nucleotide variant Conflicting interpretations of pathogenicity rs3218613 GRCh38 Chromosome 10, 89003181: 89003181
41 FASLG NM_000639.2(FASLG): c.263delT (p.Phe88Serfs) deletion Pathogenic rs587776450 GRCh37 Chromosome 1, 172628604: 172628604
42 FASLG NM_000639.2(FASLG): c.263delT (p.Phe88Serfs) deletion Pathogenic rs587776450 GRCh38 Chromosome 1, 172659464: 172659464
43 FAS NM_000043.5(FAS): c.369G> A (p.Gln123=) single nucleotide variant Benign/Likely benign rs28362318 GRCh38 Chromosome 10, 89008923: 89008923
44 FAS NM_000043.5(FAS): c.369G> A (p.Gln123=) single nucleotide variant Benign/Likely benign rs28362318 GRCh37 Chromosome 10, 90768680: 90768680
45 FAS NM_000043.5(FAS): c.642T> C (p.Thr214=) single nucleotide variant Benign rs2234978 GRCh38 Chromosome 10, 89012072: 89012072
46 FAS NM_000043.5(FAS): c.642T> C (p.Thr214=) single nucleotide variant Benign rs2234978 GRCh37 Chromosome 10, 90771829: 90771829
47 FASLG NM_000639.2(FASLG): c.-16T> C single nucleotide variant Likely benign rs781373207 GRCh37 Chromosome 1, 172628326: 172628326
48 FASLG NM_000639.2(FASLG): c.-16T> C single nucleotide variant Likely benign rs781373207 GRCh38 Chromosome 1, 172659186: 172659186
49 FASLG NM_000639.2(FASLG): c.177_182delGCCGCC (p.Pro61_Pro62del) deletion Uncertain significance rs886045570 GRCh38 Chromosome 1, 172659378: 172659383
50 FASLG NM_000639.2(FASLG): c.177_182delGCCGCC (p.Pro61_Pro62del) deletion Uncertain significance rs886045570 GRCh37 Chromosome 1, 172628518: 172628523

Expression for Autoimmune Lymphoproliferative Syndrome

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

Pathways for Autoimmune Lymphoproliferative Syndrome

Pathways related to Autoimmune Lymphoproliferative Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Apoptosis hsa04210

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

(show top 50) (show all 98)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.26 BCL2L11 CASP10 CASP8 FADD FAS FASLG
2
Show member pathways
13.99 CASP10 CASP8 CTLA4 FADD FASLG HRAS
3
Show member pathways
13.95 BCL2L11 CASP10 CASP8 FADD FAS FASLG
4
Show member pathways
13.92 BCL2L11 CASP10 CASP8 FADD FAS FASLG
5
Show member pathways
13.75 CASP10 CASP8 FAS FASLG HRAS IL10
6
Show member pathways
13.49 FADD FAS FASLG HRAS IL10 IL2
7
Show member pathways
13.44 FASLG HRAS IL10 IL2 IL2RA NRAS
8
Show member pathways
13.28 CASP10 CASP8 FAS FASLG HRAS IL10
9
Show member pathways
13.11 HRAS IL2 IL2RA NRAS PRKCD STAT3
10
Show member pathways
13.1 CASP8 FADD FAS FASLG IL10 IL2
11
Show member pathways
13.01 CASP10 CASP8 FADD FAS FASLG HRAS
12
Show member pathways
13 CTLA4 HRAS NRAS PRKCD PTPRC STAT3
13
Show member pathways
13 BCL2L11 CASP8 FADD FAS FASLG HRAS
14
Show member pathways
12.96 FAS FASLG HRAS NRAS PRKCD STAT3
15
Show member pathways
12.89 BCL2L11 HRAS NRAS PRKCD STAT3
16
Show member pathways
12.88 HRAS IL2 IL2RA NRAS PRKCD PTPRC
17
Show member pathways
12.87 CASP8 FADD FAS FASLG IL2 IL2RA
18 12.85 CASP8 FAS FASLG HRAS NRAS PRKCD
19
Show member pathways
12.83 BCL2L11 HRAS NRAS PRKCD STAT3
20
Show member pathways
12.8 FAS FASLG HRAS NRAS PRKCD STAT3
21
Show member pathways
12.8 CASP10 CASP8 FADD FAS FASLG HRAS
22
Show member pathways
12.79 BCL2L11 CASP10 CASP8 FADD FAS FASLG
23
Show member pathways
12.78 BCL2L11 CASP10 CASP8 FADD FAS FASLG
24
Show member pathways
12.76 FAS FASLG HRAS NRAS PRKCD STAT3
25
Show member pathways
12.73 CASP8 FADD HRAS NRAS PRKCD
26
Show member pathways
12.72 HRAS IL10 IL2 IL2RA STAT3
27 12.68 BCL2L11 CASP8 FADD FAS FASLG HRAS
28
Show member pathways
12.67 HRAS IL10 IL2 NRAS STAT3
29
Show member pathways
12.63 CASP10 CASP8 HRAS NRAS PRKCD STAT3
30
Show member pathways
12.61 FAS FASLG HRAS IL2 NRAS PRF1
31
Show member pathways
12.6 CASP10 CASP8 FADD FASLG TNFAIP3
32
Show member pathways
12.58 CASP10 CASP8 FADD FAS FASLG HRAS
33
Show member pathways
12.57 CASP10 CASP8 FADD FAS FASLG PRF1
34
Show member pathways
12.53 HRAS NRAS PRKCD STAT3
35
Show member pathways
12.52 BCL2L11 HRAS NRAS STAT3
36
Show member pathways
12.5 IL10 IL2 IL2RA STAT3
37
Show member pathways
12.5 CASP10 CASP8 HRAS IL2 IL2RA NRAS
38
Show member pathways
12.49 HRAS NRAS PRKCD STAT3
39
Show member pathways
12.48 CASP8 HRAS NRAS PRKCD
40
Show member pathways
12.48 CTLA4 IL2 IL2RA PRKCD PTPRC
41 12.47 HRAS IL2 IL2RA NRAS
42
Show member pathways
12.44 HRAS NRAS PRKCD PTPRC
43
Show member pathways
12.44 CASP10 CASP8 FADD FAS FASLG TNFAIP3
44
Show member pathways
12.44 CASP8 CTLA4 FADD FAS FASLG HRAS
45
Show member pathways
12.41 HRAS NRAS PRKCD STAT3
46
Show member pathways
12.39 CASP8 FADD STAT3 TNFAIP3
47
Show member pathways
12.39 HRAS NRAS PRKCD PTPRC
48
Show member pathways
12.39 CASP10 CASP8 FADD FAS FASLG
49 12.39 FAS FASLG HRAS NRAS STAT3
50 12.36 CASP8 HRAS NRAS STAT3

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 9.65 CASP8 FADD FAS FASLG PTPRC
2 external side of plasma membrane GO:0009897 9.62 CTLA4 FASLG IL2RA PTPRC
3 death-inducing signaling complex GO:0031264 9.33 CASP8 FADD FAS
4 ripoptosome GO:0097342 9.13 CASP10 CASP8 FADD
5 CD95 death-inducing signaling complex GO:0031265 8.92 CASP10 CASP8 FADD FAS

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.98 HRAS IL2 IL2RA NRAS
2 response to lipopolysaccharide GO:0032496 9.95 CASP8 FAS FASLG IL10
3 cell surface receptor signaling pathway GO:0007166 9.95 CASP10 CASP8 FADD HRAS IL2RA PTPRC
4 defense response to virus GO:0051607 9.94 FADD PRF1 PTPRC UNC13D
5 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.93 CASP10 CASP8 FADD FASLG
6 cellular response to mechanical stimulus GO:0071260 9.84 CASP8 FADD FAS
7 positive regulation of T cell proliferation GO:0042102 9.83 IL2 IL2RA PTPRC
8 negative regulation of inflammatory response GO:0050728 9.83 IL10 IL2 IL2RA PRKCD TNFAIP3
9 positive regulation of interferon-gamma production GO:0032729 9.79 FADD HRAS IL2
10 negative regulation of T cell proliferation GO:0042130 9.77 CTLA4 IL10 IL2RA
11 execution phase of apoptosis GO:0097194 9.77 CASP10 CASP8 PRKCD
12 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.77 CASP10 CASP8 FADD FAS FASLG
13 extrinsic apoptotic signaling pathway GO:0097191 9.76 CASP8 FADD FAS FASLG
14 B cell proliferation GO:0042100 9.74 IL10 PRKCD PTPRC
15 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.73 CASP8 FADD FASLG
16 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.72 BCL2L11 FADD IL2
17 apoptotic signaling pathway GO:0097190 9.72 CASP10 CASP8 FADD FAS FASLG
18 T cell homeostasis GO:0043029 9.71 BCL2L11 FADD IL2RA
19 positive regulation of activated T cell proliferation GO:0042104 9.7 FADD IL2 IL2RA
20 regulation of regulatory T cell differentiation GO:0045589 9.69 CTLA4 IL2 IL2RA
21 positive regulation of macrophage differentiation GO:0045651 9.68 CASP8 FADD
22 response to molecule of bacterial origin GO:0002237 9.68 IL10 TNFAIP3
23 activation of cysteine-type endopeptidase activity GO:0097202 9.68 CASP8 FADD
24 regulation of necroptotic process GO:0060544 9.67 CASP8 FADD
25 toll-like receptor 3 signaling pathway GO:0034138 9.67 CASP8 FADD
26 interleukin-2-mediated signaling pathway GO:0038110 9.67 IL2 IL2RA
27 death-inducing signaling complex assembly GO:0071550 9.65 CASP8 FADD
28 negative regulation of lymphocyte proliferation GO:0050672 9.63 IL2 IL2RA
29 regulation of T cell homeostatic proliferation GO:0046013 9.58 IL2 IL2RA
30 TRAIL-activated apoptotic signaling pathway GO:0036462 9.58 CASP8 FADD
31 necroptotic signaling pathway GO:0097527 9.58 FADD FAS FASLG
32 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.56 CASP8 FADD FAS FASLG
33 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 9.46 CASP8 FADD FAS FASLG
34 apoptotic process GO:0006915 9.36 BCL2L11 CASP10 CASP8 FADD FAS FASLG
35 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.35 CASP8 FADD FAS FASLG TNFAIP3
36 neutrophil degranulation GO:0043312 10.06 NRAS PRKCD PTPRC TCN1 UNC13D
37 inflammatory response GO:0006954 10.04 FAS IL10 IL2RA STAT3 TNFAIP3
38 immune response GO:0006955 10.04 CTLA4 FAS FASLG IL10 IL2 IL2RA
39 positive regulation of apoptotic process GO:0043065 10.02 BCL2L11 CTLA4 FADD FAS FASLG
40 regulation of apoptotic process GO:0042981 10.01 BCL2L11 CASP10 CASP8 FADD FAS
41 cytokine-mediated signaling pathway GO:0019221 10 FASLG IL10 IL2 IL2RA STAT3

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.87 CASP8 FADD FAS PRF1 PTPRC STAT3
2 kinase binding GO:0019900 9.61 FAS PRKCD TNFAIP3
3 tumor necrosis factor receptor binding GO:0005164 9.43 CASP8 FADD FASLG
4 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.4 CASP10 CASP8
5 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.37 CASP10 CASP8
6 death receptor binding GO:0005123 9.13 CASP8 FADD FASLG
7 death effector domain binding GO:0035877 8.8 CASP10 CASP8 FADD
8 protein binding GO:0005515 10.13 BCL2L11 CASP10 CASP8 CTLA4 FADD FAS

Sources for Autoimmune Lymphoproliferative Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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