MCID: ATM006
MIFTS: 71

Autoimmune Lymphoproliferative Syndrome

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

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome:

Name: Autoimmune Lymphoproliferative Syndrome 53 12 23 49 24 55 28 51 41 14 69
Canale-Smith Syndrome 53 12 49 24 55 71
Alps 53 12 23 49 24 55
Autoimmune Lymphoproliferative Syndrome, Type Ia 53 13 69
Autoimmune Lymphoproliferative Syndrome, Type Ib 53 69
Fas Deficiency 49 55
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant 53
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant 49
Autoimmune Lymphoproliferative Syndrome, Type 1b 28
Autoimmune Lymphoproliferative Syndrome, Type 1a 28
Autoimmune Lymphoproliferative Syndrome Type Ia 71
Autoimmune Lymphoproliferative Syndrome Type Ib 71
Autoimmune Lymphoproliferative Syndrome 1a 71
Autoimmune Lymphoproliferative Syndrome 1b 71
Autoimmune Lymphoproliferative Syndromes 36
Alps1a 71
Alps1b 71
Css 71

Characteristics:

Orphanet epidemiological data:

55
autoimmune lymphoproliferative syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
recessive inheritance has been reported


HPO:

31
autoimmune lymphoproliferative syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
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 53 601859
Disease Ontology 12 DOID:6688
ICD10 32 D47.9 D89.82
ICD9CM 34 279.41
MeSH 41 D056735
NCIt 46 C37864
SNOMED-CT 64 702444009
Orphanet 55 ORPHA3261
MESH via Orphanet 42 D056735
UMLS via Orphanet 70 C1328840
ICD10 via Orphanet 33 D47.9
KEGG 36 H00108

Summaries for Autoimmune Lymphoproliferative Syndrome

NIH Rare Diseases : 49 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. Last updated: 8/16/2016

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, also known as canale-smith syndrome, is related to autoimmune lymphoproliferative syndrome, type iii and cytomegalovirus infection, and has symptoms including splenomegaly, hepatomegaly and iron deficiency anemia. 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 Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

OMIM : 53 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 : 71 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 : 24 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 : 72 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 120)
# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome, type iii 34.6 CASP10 FASLG PRKCD
2 cytomegalovirus infection 30.1 FAS IL10 IL2RA
3 chronic active epstein-barr virus infection 29.9 CTLA4 IL10 IL2
4 uveitis 29.8 CTLA4 IL10 IL2RA
5 lymphoproliferative syndrome 29.7 CASP10 CASP8 CTLA4 FAS FASLG IL2
6 lymphoma, hodgkin, classic 29.6 IL2 IL2RA PTPRC
7 hemophagocytic lymphohistiocytosis 29.5 FAS IL10 IL2RA PRF1 UNC13D
8 common variable immunodeficiency 29.2 CTLA4 FAS IL10 IL2 IL2RA LRBA
9 autoimmune disease 29.1 CTLA4 FAS IL10 IL2 IL2RA STAT3
10 lymphoma, non-hodgkin, familial 28.9 CASP10 CASP8 FAS IL2 IL2RA PRF1
11 systemic lupus erythematosus 28.8 CTLA4 FAS FASLG IL10 IL2 IL2RA
12 autoimmune lymphoproliferative syndrome, type iia 12.6
13 autoimmune lymphoproliferative syndrome, type v 12.5
14 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 12.2
15 caspase 8 deficiency 12.0
16 ras-associated autoimmune leukoproliferative disorder 11.9
17 eosinophilic granulomatosis with polyangiitis 11.5
18 dianzani autoimmune lymphoproliferative disease 11.3
19 coffin-siris syndrome 1 11.2
20 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 11.0
21 allergic angiitis 10.9
22 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.9
23 epstein-barr virus-associated gastric carcinoma 10.4 FAS FASLG IL10
24 pneumoconiosis 10.4 CASP8 FAS FASLG
25 hyperlucent lung 10.4 IL10 IL2RA
26 type ii mixed cryoglobulinemia 10.4 FAS FASLG
27 post-transplant lymphoproliferative disease 10.4 CASP8 FADD IL10
28 large granular lymphocyte leukemia 10.3 CASP8 IL2RA STAT3
29 malignant skin fibrous histiocytoma 10.3 CTLA4 HRAS NRAS
30 idiopathic neutropenia 10.3 FASLG IL10 IL2RA
31 malignant dermis tumor 10.3 CTLA4 HRAS NRAS
32 vogt-koyanagi-harada disease 10.3 FAS IL10 IL2RA
33 hypersensitivity reaction type iv disease 10.3 CASP10 FAS IL2
34 churg-strauss syndrome 10.3
35 schimmelpenning-feuerstein-mims syndrome 10.3 HRAS NRAS
36 malignant glioma 10.2 CASP8 FAS FASLG STAT3
37 benign struma ovarii 10.2 HRAS NRAS
38 t-cell large granular lymphocyte leukemia 10.2 FASLG IL2 STAT3
39 graves' disease 10.2 CTLA4 FAS FASLG IL2RA
40 hematopoietic stem cell transplantation 10.2 CTLA4 IL10 IL2
41 thyroiditis 10.2 CTLA4 FASLG IL2
42 chronic mucocutaneous candidiasis 10.2 IL10 IL2RA STAT3
43 lymphoma 10.2
44 immune suppression 10.2 IL10 IL2 STAT3
45 paracoccidioidomycosis 10.2 CTLA4 IL10 IL2
46 filariasis 10.2 CTLA4 IL10 IL2
47 b-cell expansion with nfkb and t-cell anergy 10.2 FASLG IL2 IL2RA
48 intermediate uveitis 10.1 IL10 IL2 IL2RA
49 hypersensitivity reaction disease 10.1 CTLA4 IL10 IL2
50 graft-versus-host disease 10.1 FAS FASLG 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:

53
Abdomen Spleen:
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:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 iron deficiency anemia 31 HP:0001891
4 urticaria 31 HP:0001025
5 vasculitis 31 HP:0002633
6 eosinophilia 31 HP:0001880
7 autoimmune hemolytic anemia 31 HP:0001890
8 autoimmune thrombocytopenia 31 HP:0001973
9 autoimmune neutropenia 31 HP:0001904
10 antinuclear antibody positivity 31 HP:0003493
11 increased igm level 31 HP:0003496
12 increased iga level 31 HP:0003261
13 antiphospholipid antibody positivity 31 HP:0003613
14 follicular hyperplasia 31 HP:0002729
15 chronic noninfectious lymphadenopathy 31 HP:0002730
16 increased igg level 31 HP:0003237
17 rheumatoid factor positive 31 HP:0002923
18 coombs-positive hemolytic anemia 31 HP:0004844
19 reduced delayed hypersensitivity 31 HP:0002972
20 platelet antibody positive 31 HP:0003454
21 decreased lymphocyte apoptosis 31 HP:0002731
22 elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 31 HP:0002851
23 increased proportion of hla dr+ t cells 31 HP:0002853
24 smooth muscle antibody positivity 31 HP:0003262
25 antineutrophil antibody positivity 31 HP:0003453

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 9.84 FADD FAS IL10 IL2 IL2RA BCL2L11
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.84 CASP8 FADD FAS FASLG IL10 IL2

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome:

43 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.45 NRAS IL2 PRF1 IL2RA STAT3 PRKCD
2 hematopoietic system MP:0005397 10.45 NRAS IL2 PRF1 IL2RA LRBA STAT3
3 homeostasis/metabolism MP:0005376 10.44 NRAS IL2 PRF1 IL2RA PRKCD STAT3
4 cardiovascular system MP:0005385 10.42 NRAS IL2 PRF1 PRKCD STAT3 TNFAIP3
5 immune system MP:0005387 10.42 NRAS IL2 PRF1 IL2RA LRBA STAT3
6 cellular MP:0005384 10.38 IL10 NRAS IL2 PRF1 PRKCD STAT3
7 growth/size/body region MP:0005378 10.38 IL10 NRAS IL2 PRF1 IL2RA PRKCD
8 digestive/alimentary MP:0005381 10.34 NRAS IL2 IL2RA STAT3 PTPRC TNFAIP3
9 mortality/aging MP:0010768 10.34 NRAS IL2 PRF1 IL2RA PRKCD STAT3
10 liver/biliary system MP:0005370 10.27 NRAS IL2 PRF1 STAT3 PRKCD PTPRC
11 integument MP:0010771 10.22 NRAS PRF1 STAT3 TNFAIP3 BCL2L11 CTLA4
12 nervous system MP:0003631 10.15 IL10 PRF1 PRKCD STAT3 PTPRC UNC13D
13 neoplasm MP:0002006 10.14 NRAS IL2 PRF1 STAT3 PTPRC CASP8
14 normal MP:0002873 9.96 IL10 NRAS PRF1 STAT3 PTPRC CTLA4
15 no phenotypic analysis MP:0003012 9.92 IL10 NRAS IL2 PTPRC TNFAIP3 BCL2L11
16 renal/urinary system MP:0005367 9.81 PRKCD STAT3 PTPRC TNFAIP3 BCL2L11 CASP8
17 respiratory system MP:0005388 9.7 IL2 IL2RA STAT3 PTPRC TNFAIP3 CTLA4
18 skeleton MP:0005390 9.4 NRAS PRKCD STAT3 PTPRC TNFAIP3 UNC13D

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome

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

(show all 47)
# 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 460612 4053
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 46835353 6436030 5284616
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 Immunosuppressive Agents Phase 2,Phase 1
22 Nucleic Acid Synthesis Inhibitors Phase 2
23 Anti-Bacterial Agents Phase 1, Phase 2
24 Antibiotics, Antitubercular Phase 1, Phase 2
25 Antifungal Agents Phase 1, Phase 2
26
Levoleucovorin Approved, Investigational Phase 1 68538-85-2
27
Pyrimethamine Approved, Investigational, Vet_approved Phase 1 58-14-0 4993
28
Sulfadoxine Approved, Investigational Phase 1 2447-57-6 17134
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
30
leucovorin Approved, Nutraceutical Phase 1 58-05-9 143 6006
31 Antimalarials Phase 1
32 Antiparasitic Agents Phase 1
33 Antiprotozoal Agents Phase 1
34 Folic Acid Antagonists Phase 1
35 Vitamin B Complex Phase 1
36 Fanasil, pyrimethamine drug combination Phase 1
37 Renal Agents Phase 1
38 Folate Nutraceutical Phase 1
39 Vitamin B9 Nutraceutical Phase 1
40 Antiviral Agents
41 Deoxyglucose
42 Fluorodeoxyglucose F18
43 Radiopharmaceuticals
44 Antibodies
45 Autoantibodies
46 Immunoglobulins
47 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 28 FAS FASLG
2 Autoimmune Lymphoproliferative Syndrome, Type 1b 28 FASLG
3 Autoimmune Lymphoproliferative Syndrome, Type 1a 28

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

38
Lymph Node, Spleen, Liver, T Cells, Skin, Kidney, Eye

Publications for Autoimmune Lymphoproliferative Syndrome

Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50) (show all 203)
# Title Authors Year
1
Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. ( 29271561 )
2018
2
Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression. ( 28087326 )
2017
3
Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand. ( 28814155 )
2017
4
IgG4-related disease in autoimmune lymphoproliferative syndrome. ( 28478106 )
2017
5
RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. ( 29155103 )
2017
6
Autoimmune Lymphoproliferative Syndrome Masquerading as Posttransplant Lymphoproliferative Disorder. ( 28991130 )
2017
7
A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. ( 27770190 )
2017
8
TCF1 deficiency ameliorates autoimmune lymphoproliferative syndrome (ALPS)-like phenotypes of lpr/lpr mice. ( 28349581 )
2017
9
Lymphadenopathy driven by TCR-V<sub>I^</sub>8V<sub>I'</sub>1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome. ( 29296752 )
2017
10
Autoimmune lymphoproliferative syndrome: more than a FAScinating disease. ( 29123652 )
2017
11
Pearls and pitfalls: Autoimmune lymphoproliferative syndrome and autoimmune lymphoproliferative syndrome-like disease. ( 28668112 )
2017
12
Use of Sirolimus (Rapamycin) for Treatment of Cytopenias and Lymphoproliferation Linked to Autoimmune Lymphoproliferative Syndrome (ALPS). Two Case Reports. ( 28234735 )
2017
13
Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome. ( 28668589 )
2017
14
Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients. ( 29345341 )
2017
15
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
16
Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation. ( 26323380 )
2016
17
Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS). ( 27060458 )
2016
18
Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. ( 27845235 )
2016
19
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome. ( 26907631 )
2016
20
Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation. ( 27378136 )
2016
21
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. ( 27099149 )
2016
22
Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children. ( 27139496 )
2016
23
Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation. ( 27846610 )
2016
24
Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort. ( 27268092 )
2016
25
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. ( 27789675 )
2016
26
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
27
Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient. ( 27979843 )
2016
28
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
29
Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome. ( 27579193 )
2016
30
Ocular Inflammatory Disorders in Autoimmune Lymphoproliferative Syndrome (ALPS). ( 27229379 )
2016
31
Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 25663566 )
2015
32
Janus Kinase Inhibitor Tofacitinib Shows Potent Efficacy in a Mouse Model of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 26453583 )
2015
33
FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome. ( 26563159 )
2015
34
Adult onset autoimmune lymphoproliferative syndrome due to somatic FAS mutation. ( 25827517 )
2015
35
Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. ( 26113417 )
2015
36
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. ( 26472737 )
2015
37
Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome. ( 26258116 )
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
Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. ( 26456038 )
2015
41
Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia. ( 25972287 )
2015
42
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. ( 25451160 )
2014
43
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant. ( 25669891 )
2014
44
Autoimmune lymphoproliferative syndrome with neonatal onset. ( 24906264 )
2014
45
Autoimmune lymphoproliferative syndrome: an update and review of the literature. ( 25086580 )
2014
46
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. ( 24398331 )
2014
47
IL-10/Janus kinase/signal transducer and activator ofA transcription 3 signaling dysregulates Bim expression inA autoimmune lymphoproliferative syndrome. ( 25174872 )
2014
48
Autoimmune lymphoproliferative syndrome in pregnancy: A case of favorable mother-fetal outcome in a well-controlled disease. ( 25302402 )
2014
49
Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing? ( 23407489 )
2013
50
Autoimmune Lymphoproliferative Syndrome and Epstein-Barr Virus-Associated Lymphoma: An Adjunctive Diagnostic Role for Monitoring EBV Viremia? ( 25374737 )
2013

Variations for Autoimmune Lymphoproliferative Syndrome

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

71 (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 all 20)
# 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 FAS NM_000043.5(FAS): c.232delG (p.Asp78Metfs) deletion Pathogenic rs606231361 GRCh38 Chromosome 10, 89007735: 89007735
3 FAS NM_000043.5(FAS): c.334+2dupT duplication Pathogenic rs606231362 GRCh38 Chromosome 10, 89007839: 89007839
4 FAS NM_000043.5(FAS): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic rs121913076 GRCh37 Chromosome 10, 90773920: 90773920
5 FAS NM_000043.5(FAS): c.569-2A> C single nucleotide variant Pathogenic rs606231363 GRCh38 Chromosome 10, 89011997: 89011997
6 FAS NM_000043.5(FAS): c.817C> T (p.Gln273Ter) single nucleotide variant Pathogenic rs121913077 GRCh37 Chromosome 10, 90774016: 90774016
7 FAS NM_000043.5(FAS): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic rs121913078 GRCh37 Chromosome 10, 90768672: 90768672
8 FAS NM_000043.5(FAS): c.695A> G (p.Tyr232Cys) single nucleotide variant Pathogenic rs121913079 GRCh37 Chromosome 10, 90773894: 90773894
9 FAS NM_000043.5(FAS): c.779A> T (p.Asp260Val) single nucleotide variant Pathogenic rs28929498 GRCh37 Chromosome 10, 90773978: 90773978
10 FAS NM_000043.5(FAS): c.749G> C (p.Arg250Pro) single nucleotide variant Pathogenic rs121913080 GRCh37 Chromosome 10, 90773948: 90773948
11 FAS NM_000043.5(FAS): c.809C> T (p.Thr270Ile) single nucleotide variant Pathogenic rs121913081 GRCh37 Chromosome 10, 90774008: 90774008
12 FAS NM_000043.5(FAS): c.651+2T> A single nucleotide variant Pathogenic rs267607122 GRCh37 Chromosome 10, 90771840: 90771840
13 FAS NM_000043.5(FAS): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs606231364 GRCh38 Chromosome 10, 89003071: 89003071
14 FAS NM_000043.5(FAS): c.968_987dup20 (p.Glu330Lysfs) duplication Pathogenic rs606231365 GRCh38 Chromosome 10, 89014410: 89014429
15 FAS NM_000043.5(FAS): c.740G> C (p.Gly247Ala) single nucleotide variant Pathogenic rs121913085 GRCh37 Chromosome 10, 90773939: 90773939
16 FAS NM_000043.5(FAS): c.651+2T> C single nucleotide variant Pathogenic rs267607122 GRCh37 Chromosome 10, 90771840: 90771840
17 FAS NM_000043.5(FAS): c.692_693insT (p.Lys231Asnfs) insertion Pathogenic rs606231366 GRCh38 Chromosome 10, 89014134: 89014135
18 FAS NM_000043.5(FAS): c.778G> T (p.Asp260Tyr) single nucleotide variant Pathogenic rs121913086 GRCh37 Chromosome 10, 90773977: 90773977
19 FASLG NM_000639.2(FASLG): c.466A> G (p.Arg156Gly) single nucleotide variant Pathogenic rs80358238 GRCh37 Chromosome 1, 172634776: 172634776
20 FASLG NM_000639.2(FASLG): c.263delT (p.Phe88Serfs) deletion Pathogenic rs587776450 GRCh37 Chromosome 1, 172628604: 172628604

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:

36
# Name Kegg Source Accession
1 Apoptosis hsa04210

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

(show top 50) (show all 95)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.26 BCL2L11 CASP10 CASP8 FADD FAS FASLG
2
Show member pathways
14.03 CASP10 CASP8 CTLA4 FADD FASLG HRAS
3
Show member pathways
13.95 BCL2L11 CASP10 CASP8 FADD FAS FASLG
4
Show member pathways
13.88 BCL2L11 CASP10 CASP8 FADD FAS FASLG
5
Show member pathways
13.73 CASP10 CASP8 FAS FASLG HRAS IL10
6
Show member pathways
13.49 FADD FAS FASLG HRAS IL10 IL2
7
Show member pathways
13.43 FASLG HRAS IL10 IL2 IL2RA NRAS
8
Show member pathways
13.3 CASP10 CASP8 FAS FASLG HRAS IL10
9
Show member pathways
13.28 HRAS IL2 IL2RA NRAS PRKCD PTPRC
10
Show member pathways
13.11 HRAS IL2 IL2RA NRAS PRKCD STAT3
11
Show member pathways
13.02 BCL2L11 CASP8 FADD FAS FASLG HRAS
12
Show member pathways
12.99 CTLA4 HRAS NRAS PRKCD PTPRC STAT3
13
Show member pathways
12.95 FAS FASLG HRAS NRAS PRKCD STAT3
14
Show member pathways
12.93 CASP8 FADD HRAS NRAS PRKCD
15
Show member pathways
12.89 CASP8 FADD FAS FASLG IL2 IL2RA
16
Show member pathways
12.88 BCL2L11 HRAS NRAS PRKCD STAT3
17
Show member pathways
12.85 CASP8 CTLA4 FADD FAS FASLG IL10
18
Show member pathways
12.84 HRAS IL2 IL2RA PRKCD STAT3
19 12.84 CASP8 FAS FASLG HRAS NRAS PRKCD
20
Show member pathways
12.8 FAS FASLG HRAS NRAS PRKCD STAT3
21
Show member pathways
12.77 FAS FASLG HRAS NRAS PRKCD STAT3
22
Show member pathways
12.76 BCL2L11 CASP10 CASP8 FADD FAS FASLG
23
Show member pathways
12.76 CASP10 CASP8 FADD FAS FASLG HRAS
24
Show member pathways
12.73 CASP8 FADD HRAS NRAS PRKCD
25
Show member pathways
12.71 CASP10 CASP8 FADD FAS FASLG HRAS
26
Show member pathways
12.7 HRAS IL10 IL2 IL2RA PTPRC
27
Show member pathways
12.66 HRAS IL10 IL2 NRAS STAT3
28
Show member pathways
12.63 CASP8 FADD FAS FASLG IL10 IL2
29
Show member pathways
12.61 FAS FASLG HRAS IL2 NRAS PRF1
30
Show member pathways
12.61 CASP10 CASP8 HRAS NRAS PRKCD STAT3
31
Show member pathways
12.6 CASP10 CASP8 FADD FAS FASLG HRAS
32
Show member pathways
12.59 CASP10 CASP8 FADD FAS FASLG PRF1
33 12.58 BCL2L11 CASP8 FADD FAS FASLG HRAS
34
Show member pathways
12.53 CASP10 CASP8 HRAS IL2 IL2RA NRAS
35
Show member pathways
12.48 CASP8 HRAS NRAS PRKCD
36 12.48 HRAS IL2 IL2RA NRAS
37
Show member pathways
12.48 CTLA4 IL2 IL2RA PRKCD PTPRC
38
Show member pathways
12.45 BCL2L11 FASLG HRAS STAT3
39
Show member pathways
12.45 HRAS IL10 IL2 IL2RA STAT3
40
Show member pathways
12.44 HRAS NRAS PRKCD PTPRC
41
Show member pathways
12.44 CASP10 CASP8 FADD FAS FASLG TNFAIP3
42
Show member pathways
12.41 HRAS NRAS PRKCD STAT3
43
Show member pathways
12.4 HRAS NRAS PRKCD STAT3
44 12.4 FAS FASLG HRAS NRAS STAT3
45
Show member pathways
12.39 CASP8 FADD STAT3 TNFAIP3
46
Show member pathways
12.39 CASP10 CASP8 FADD FAS FASLG
47
Show member pathways
12.38 HRAS NRAS PRKCD PTPRC
48 12.36 BCL2L11 CASP8 FADD FAS FASLG TNFAIP3
49 12.35 CASP8 HRAS NRAS STAT3
50
Show member pathways
12.33 CASP8 FADD FAS FASLG STAT3 TNFAIP3

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 ripoptosome GO:0097342 9.33 CASP10 CASP8 FADD
4 death-inducing signaling complex GO:0031264 9.13 CASP8 FADD FAS
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 37)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.99 BCL2L11 CASP10 CASP8 FADD FAS
2 response to lipopolysaccharide GO:0032496 9.94 CASP8 FAS FASLG IL10
3 defense response to virus GO:0051607 9.93 FADD PRF1 PTPRC UNC13D
4 cell surface receptor signaling pathway GO:0007166 9.93 CASP10 CASP8 FADD HRAS IL2RA PTPRC
5 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.92 CASP10 CASP8 FADD FASLG
6 cellular response to mechanical stimulus GO:0071260 9.83 CASP8 FADD FAS
7 positive regulation of T cell proliferation GO:0042102 9.81 IL2 IL2RA PTPRC
8 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.8 CASP8 FADD FAS FASLG
9 positive regulation of interferon-gamma production GO:0032729 9.78 FADD HRAS IL2
10 execution phase of apoptosis GO:0097194 9.77 CASP10 CASP8 PRKCD
11 negative regulation of inflammatory response GO:0050728 9.77 IL10 IL2 IL2RA PRKCD TNFAIP3
12 negative regulation of T cell proliferation GO:0042130 9.76 CTLA4 IL10 IL2RA
13 B cell proliferation GO:0042100 9.73 IL10 PRKCD PTPRC
14 extrinsic apoptotic signaling pathway GO:0097191 9.73 CASP8 FADD FAS FASLG
15 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.72 BCL2L11 FADD IL2
16 apoptotic signaling pathway GO:0097190 9.72 CASP10 CASP8 FADD FAS FASLG
17 T cell homeostasis GO:0043029 9.7 BCL2L11 FADD IL2RA
18 positive regulation of activated T cell proliferation GO:0042104 9.69 FADD IL2 IL2RA
19 positive regulation of macrophage differentiation GO:0045651 9.67 CASP8 FADD
20 response to molecule of bacterial origin GO:0002237 9.67 IL10 TNFAIP3
21 activation of cysteine-type endopeptidase activity GO:0097202 9.67 CASP8 FADD
22 regulation of necroptotic process GO:0060544 9.66 CASP8 FADD
23 toll-like receptor 3 signaling pathway GO:0034138 9.65 CASP8 FADD
24 death-inducing signaling complex assembly GO:0071550 9.65 CASP8 FADD
25 regulation of regulatory T cell differentiation GO:0045589 9.65 CTLA4 IL2 IL2RA
26 negative regulation of lymphocyte proliferation GO:0050672 9.62 IL2 IL2RA
27 regulation of T cell homeostatic proliferation GO:0046013 9.58 IL2 IL2RA
28 necroptotic signaling pathway GO:0097527 9.58 FADD FAS FASLG
29 TRAIL-activated apoptotic signaling pathway GO:0036462 9.57 CASP8 FADD
30 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.56 CASP8 FADD FAS FASLG
31 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 9.46 CASP8 FADD FAS FASLG
32 apoptotic process GO:0006915 9.36 BCL2L11 CASP10 CASP8 FADD FAS FASLG
33 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.35 CASP8 FADD FAS FASLG TNFAIP3
34 neutrophil degranulation GO:0043312 10.06 NRAS PRKCD PTPRC TCN1 UNC13D
35 inflammatory response GO:0006954 10.03 FAS IL10 IL2RA STAT3 TNFAIP3
36 positive regulation of apoptotic process GO:0043065 10.01 BCL2L11 CTLA4 FADD FAS FASLG
37 immune response GO:0006955 10.01 CTLA4 FAS FASLG IL10 IL2 IL2RA

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

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 9.43 CASP8 FADD FASLG
2 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.37 CASP10 CASP8
3 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.16 CASP10 CASP8
4 death receptor binding GO:0005123 9.13 CASP8 FADD FASLG
5 death effector domain binding GO:0035877 8.8 CASP10 CASP8 FADD
6 protein binding GO:0005515 10.28 BCL2L11 CASP10 CASP8 CTLA4 FADD FAS

Sources for Autoimmune Lymphoproliferative Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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