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MCID: IMM003
MIFTS: 45

Immunoglobulin Alpha Deficiency

Categories: Genetic diseases, Immune diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Immunoglobulin Alpha Deficiency

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MalaCards integrated aliases for Immunoglobulin Alpha Deficiency:

Name: Immunoglobulin Alpha Deficiency 12 15
Iga Deficiency 12 74 54 43
Immunoglobulin a Deficiency 71
Gamma-a-Globulin Deficiency 12

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0060025
MeSH 43 D017098
SNOMED-CT 67 29260007
UMLS 71 C0162538
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Summaries for Immunoglobulin Alpha Deficiency

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Disease Ontology : 12 A B cell deficiency that is an autosomal recessive disorder that has material basis in mutation in the IgA (CD79 alpha) antigen receptor.

MalaCards based summary : Immunoglobulin Alpha Deficiency, also known as iga deficiency, is related to primary agammaglobulinemia and glomerulonephritis. An important gene associated with Immunoglobulin Alpha Deficiency is CD40LG (CD40 Ligand), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Antigen-Antibody Complex and Sertraline have been mentioned in the context of this disorder. Affiliated tissues include b cells, lung and t cells, and related phenotypes are Reduced mammosphere formation and hematopoietic system

Wikipedia : 74 Selective immunoglobulin A (IgA) deficiency (SIgAD) is a genetic immunodeficiency, a type of... more...

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Related Diseases for Immunoglobulin Alpha Deficiency

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Diseases related to Immunoglobulin Alpha Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 558)
# Related Disease Score Top Affiliating Genes
1 primary agammaglobulinemia 31.2 TNFRSF13C TNFRSF13B
2 glomerulonephritis 31.0 MBL2 CD79A CD40LG C4A
3 purpura 30.9 TNFSF13B CD79A CD40LG
4 lupus erythematosus 30.8 TNFRSF13C HLA-DQB1 CD40LG C4A
5 transient hypogammaglobulinemia 30.7 CD40LG CD19
6 agammaglobulinemia 30.7 ICOSLG CD79A CD40LG CD19
7 agammaglobulinemia, x-linked 30.6 ICOSLG CD79A CD40LG
8 spondyloarthropathy 1 30.5 ICOSLG HP CD40LG CCR6
9 immunoglobulin g deficiency 30.5 MBL2 CD79A CD40LG
10 transient hypogammaglobulinemia of infancy 30.5 TNFRSF13B CD40LG CD19
11 parotitis 30.4 CD79A CD40LG CD4
12 vasculitis 30.4 TNFSF13B MBL2 CD79A CD40LG
13 otitis media 30.4 MBL2 CD79A CD40LG
14 vitiligo-associated multiple autoimmune disease susceptibility 1 30.3 ICOSLG CD4 CCR6
15 dysgammaglobulinemia 30.3 TNFRSF13B ICOSLG CD79A CD40LG
16 thrombocytopenia 30.2 TNFSF13B TNFRSF13B HP CD79A CD40LG
17 pleural empyema 30.2 CD79A CD40LG CD4
18 sarcoidosis 1 30.1 ICOSLG HLA-DQB1 CD40LG CD4 CCR6
19 allergic hypersensitivity disease 30.1 ICOSLG CD79A CD4 CCR6
20 angioedema 30.1 MBL2 CD40LG C4A
21 immunodeficiency, common variable, 2 30.1 TNFRSF13C TNFRSF13B CD19
22 dermatitis herpetiformis 30.0 TGM2 HLA-DQB1 CD79A CD40LG
23 guillain-barre syndrome 30.0 HP HLA-DQB1 CD79A CD40LG
24 lymphocytic colitis 30.0 TOR1A TNFRSF25 TGM2
25 asymptomatic neurosyphilis 30.0 CD40LG CD4
26 norwegian scabies 30.0 CD40LG CD4
27 neuroretinitis 30.0 CD40LG CD4
28 cryoglobulinemia 30.0 TNFSF13B CD79A CD40LG
29 chronic graft versus host disease 30.0 TNFSF13B CD79A CD4
30 microscopic colitis 30.0 TOR1A TGM2 HLA-DQB1 CD79A
31 bacterial infectious disease 30.0 MBL2 ICOSLG CD40LG CD4 CCR6 C4A
32 strongyloidiasis 29.9 CD79A CD40LG CD4
33 giardiasis 29.9 TOR1A TGM2 CD79A CD40LG CD4
34 tularemia 29.9 MBL2 CD40LG CD4
35 granulomatous hepatitis 29.9 CD40LG CD4
36 bronchopneumonia 29.9 HP CD40LG CD4
37 rheumatic disease 29.9 MBL2 ICOSLG CD40LG CCR6
38 systemic scleroderma 29.9 TNFSF13B ICOSLG CD40LG CD4 CCR6
39 skin disease 29.9 ICOSLG CD79A CD40LG CD4 CCR6
40 crohn's disease 29.8 ICOSLG HP CD4 CCR6
41 t cell deficiency 29.8 CD40LG CD4 CCR6
42 pulmonary tuberculosis 29.8 MBL2 HP HLA-DQB1
43 acute cystitis 29.8 CD40LG CD4 CCR6
44 cryptosporidiosis 29.8 MBL2 CD79A CD40LG CD4
45 leprosy 3 29.8 CD40LG CD4 CCR6
46 thrombocytopenic purpura, autoimmune 29.7 ICOSLG CD40LG CD4 CD19 CCR6
47 common cold 29.7 ICOSLG CD4 CCR6
48 xerophthalmia 29.7 TNFSF13B CD40LG CD4
49 connective tissue disease 29.7 TNFSF13B ICOSLG CD40LG CD4 CCR6
50 monoclonal gammopathy of uncertain significance 29.7 ICOSLG CD40LG CD19 CCR6

Graphical network of the top 20 diseases related to Immunoglobulin Alpha Deficiency:



Diseases related to Immunoglobulin Alpha Deficiency
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Symptoms & Phenotypes for Immunoglobulin Alpha Deficiency

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GenomeRNAi Phenotypes related to Immunoglobulin Alpha Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 C4A CCR6 CD79A MSH5 TNFRSF13B TNFRSF13C

MGI Mouse Phenotypes related to Immunoglobulin Alpha Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.25 AICDA CCR6 CD19 CD4 CD40LG CD79A
2 cellular MP:0005384 10.11 AICDA CD19 CD4 CD40LG CD79A HLA-DQB1
3 homeostasis/metabolism MP:0005376 10.1 AICDA CCR6 CD19 CD4 CD40LG CD79A
4 immune system MP:0005387 10.09 AICDA CCR6 CD19 CD4 CD40LG CD79A
5 neoplasm MP:0002006 9.5 AICDA CD19 CD79A HP MSH5 TGM2
6 renal/urinary system MP:0005367 9.23 CD19 CD40LG CD79A HLA-DQB1 HP MBL2
Sources

Drugs & Therapeutics for Immunoglobulin Alpha Deficiency

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Drugs for Immunoglobulin Alpha Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antigen-Antibody Complex Phase 4
2
Sertraline Approved Phase 2 79617-96-2 68617
3
Azithromycin Approved Phase 2 83905-01-5 55185 447043
4
Penicillin G Approved, Vet_approved Phase 2 61-33-6 5904
5 Serotonin Uptake Inhibitors Phase 2
6 Antitubercular Agents Phase 2
7 Antibiotics, Antitubercular Phase 2
8 Serotonin Agents Phase 2
9 Antidepressive Agents Phase 2
10 Penicillin G Benzathine Phase 2
11 Penicillin G Procaine Phase 2
12
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
13
Dopamine Approved 51-61-6, 62-31-7 681
14
Haloperidol Approved 52-86-8 3559
15
Penicillin V Approved, Vet_approved 87-08-1 6869
16 Anesthetics
17 Immunoglobulin A, Secretory
18 Acidophilus
19 Immunologic Factors
20 Immunoglobulins
21 Antibodies
22 Anti-Infective Agents
23 Neurotransmitter Agents
24 Anti-Bacterial Agents
25 Immunoglobulins, Intravenous
26 Rho(D) Immune Globulin
27 Psychotropic Drugs
28 gamma-Globulins
29 penicillins
30 Antipsychotic Agents
31 Haloperidol decanoate
32 Central Nervous System Depressants
33 Gastrointestinal Agents
34 Antiemetics
35 Tranquilizing Agents
36 Dopamine Agents
37 Dopamine Antagonists
38 Autonomic Agents
39 Immunoglobulin A

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Effects of OctaplasLG® on Endothelial Integrity in Patients Undergoing Emergency Surgery for Thoracic Aortic Dissections - a Randomized, Controlled, Single-blinded Investigator-initiated Pilot Trial Completed NCT02253082 Phase 4 OctaplasLG®
2 Antibiotic Treatment and Intravenous Immunoglobulin Double-blind, Randomized, Placebo-controlled Trial for PANDAS Unknown status NCT01769027 Phase 2 Sertraline+Antibiotic (penicillin/azithromycin);Sertraline+placebo
3 A Phase I Dose Escalation Study of B-Lymphocyte Stimulator (BLyS) Administered Subcutaneously in Patients With Selective IgA Deficiency Completed NCT00024934 Phase 1 B-Lymphocyte Stimulator (BLyS)
4 Use of Low-level Laser Therapy on Children Aged One to Five Years With Energy-protein Malnutrition Unknown status NCT03355313
5 Impaired Secretory IgA and Mucosal Immunity in Cystic Fibrosis: Contribution to Lung Pathology and Impaired Defence Against Bacterial Infection Unknown status NCT02308267
6 Characterisation of the Salivary and Faecal Microbiome in Patients With Recurrent Aphthous Stomatitis Before and After Treatment With Probiotics Unknown status NCT02976922
7 Intravenous Immunoglobulins as Effective Treatment in Sydenham's Chorea Completed NCT00615797 standard interventions penicillin VK and haloperidol
8 Celiac Disease and Infertility Among Men and Women in Denmark: Prevalence of Celiac Disease Among Men and Women Treated in Danish Public Fertility Clinics Completed NCT02451449
9 Studies of Immune Regulation in Patients With Common Variable Immunodeficiency and Related Humoral Immunodeficiency Syndromes Recruiting NCT00001244
10 The Diagnostic Performance of Anti-Tissue Transglutaminase IgA Antibodies Serum Level for Detection of Patients With Celiac Disease Not yet recruiting NCT04019223
11 Infant Nutrition and Risk of Celiac Disease: Proposal for an Intervention, Prospective Multicenter Study Terminated NCT00819819

Search NIH Clinical Center for Immunoglobulin Alpha Deficiency

Cochrane evidence based reviews: iga deficiency

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Genetic Tests for Immunoglobulin Alpha Deficiency

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Anatomical Context for Immunoglobulin Alpha Deficiency

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MalaCards organs/tissues related to Immunoglobulin Alpha Deficiency:

40
B Cells, Lung, T Cells, Testes, Thyroid, Liver, Bone
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Publications for Immunoglobulin Alpha Deficiency

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Articles related to Immunoglobulin Alpha Deficiency:

(show top 50) (show all 1790)
# Title Authors PMID Year
1
Selective IgA deficiency. 54 61
20101521 2010
2
The outcome of patients with unclassified hypogammaglobulinemia in early childhood. 54 61
19196447 2009
3
B-lymphocyte stimulator and a proliferation-inducing ligand serum levels in IgA-deficient patients with and without celiac disease. 54 61
19758161 2009
4
Adenosine deaminase in patients with primary immunodeficiency syndromes: the analysis of serum ADA1 and ADA2 activities. 54 61
19026999 2009
5
Clinical presentation of celiac disease and the diagnostic accuracy of serologic markers in children. 54 61
18923841 2009
6
[IgA subclass and IgA deficiency]. 54 61
19564710 2009
7
Massive empyema associated with transient hypogammaglobulinemia of infancy and IgA deficiency. 54 61
19399287 2009
8
Various expression patterns of alpha1 and alpha2 genes in IgA deficiency. 54 61
19153537 2009
9
The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency. 54 61
19020530 2009
10
Antibodies against synthetic deamidated gliadin peptides for celiac disease diagnosis and follow-up in children. 54 61
18988751 2009
11
An evaluation of the DiaMed assays for immunoglobulin A antibodies (anti-IgA) and IgA deficiency. 54 61
18657081 2008
12
Selective immunoglobulin A deficiency in Iranian blood donors: prevalence, laboratory and clinical findings. 54 61
18780950 2008
13
Celiac disease in patients with type-1 diabetes mellitus screened by tissue transglutaminase antibodies in northwest of Iran. 54 61
19902043 2008
14
Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. 54 61
18202833 2008
15
Alterations in humoral immunity in relatives of patients with common variable immunodeficiency. 54 61
18714534 2008
16
Association of HLA-*08:DRB1*03 with immunoglobulin A-deficiency. 54 61
18057683 2007
17
Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations. 54 61
17504501 2007
18
The clinical significance of immunoglobulin A deficiency. 54 61
17362578 2007
19
Increases in serum immunoglobulins to age-related normal levels in children with IgA and/or IgG subclass deficiency. 54 61
17338791 2007
20
Population screening for coeliac disease in a low prevalence area in Italy. 54 61
17101572 2006
21
TACI mutation in common variable immunodeficiency and IgA deficiency. 54 61
16899196 2006
22
Do we need to measure total serum IgA to exclude IgA deficiency in coeliac disease? 54 61
16489174 2006
23
Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study. 54 61
16803619 2006
24
Dermatitis herpetiformis and partial IgA deficiency. 54 61
16631941 2006
25
Increased apoptosis of CD20+ IgA + B cells is the basis for IgA deficiency: the molecular mechanism for correction in vitro by IL-10 and CD40L. 54 61
16758339 2006
26
Immunoglobulins and inflammatory cytokines in nasal secretions in humoral immunodeficiencies. 54 61
16467712 2006
27
Rheumatoid arthritis in a patient with common variable immunodeficiency: difficulty in diagnosis and therapy. 54 61
15940551 2006
28
Celiac disease in North Italian patients with autoimmune Addison's disease. 54 61
16452541 2006
29
An unusual case of hemoperitoneum owing to acute splenic torsion in a child with immunoglobulin deficiency. 54 61
16534164 2006
30
The prevalence of humoral immunodeficiency in refractory rhinosinusitis: a retrospective analysis. 54 61
17256402 2006
31
TACI is mutant in common variable immunodeficiency and IgA deficiency. 54 61
16007086 2005
32
Frequent false positive beta human chorionic gonadotropin tests in immunoglobulin A deficiency. 54 61
15996198 2005
33
IgA deficiency: clinical correlates with IgG subclass and mannan-binding lectin deficiencies. 54 61
16116926 2005
34
IgA deficiency and membranous glomerulonephritis presenting as nephrotic syndrome. 54 61
15711951 2005
35
IgA and/or IgG subclass deficiency in children with recurrent respiratory infections and its relationship with chronic pulmonary damage. 54 61
15864886 2005
36
Diagnosing celiac disease: a comparison of human tissue transglutaminase antibodies with antigliadin and antiendomysium antibodies. 54 61
15184223 2004
37
Molecular analysis of B-cell differentiation in selective or partial IgA deficiency. 54 61
15086392 2004
38
Gender, age and seasonal effects on IgA deficiency: a study of 7293 Caucasians. 54 61
15025682 2004
39
Oral manifestations in selective IgA deficiency. 54 61
16451448 2004
40
Immunoglobulin subclasses and HLA alleles in immunoglobulin A deficiency. 54 61
12841399 2003
41
The syndrome of chronic mucocutaneous candidiasis with selective antibody deficiency. 54 61
12602677 2003
42
IgA deficiency with membranous glomerulonephritis: a case report and review. 54 61
12649548 2003
43
Evaluation of the relevance of humoral immunodeficiencies in a pediatric population affected by recurrent infections. 54 61
12485321 2002
44
Celiac disease and immunoglobulin a deficiency: how effective are the serological methods of diagnosis? 54 61
12414763 2002
45
MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes. 54 61
12370403 2002
46
Immunoglobulin G autoantibodies against tissue-transglutaminase. A sensitive, cost-effective assay for the screening of celiac disease. 54 61
12482193 2002
47
Central MHC genes affect IgA levels in the human: reciprocal effects in IgA deficiency and IgA nephropathy. 54 61
11975987 2002
48
Analysis of Ig subclass deficiency: First reported case of IgG2, IgG4, and IgA deficiency caused by deletion of C alpha 1, psi C gamma, C gamma 2, C gamma 4, and C epsilon in a Mongoloid patient. 54 61
11590388 2001
49
Physiology of IgA and IgA deficiency. 54 61
11720003 2001
50
[IgA deficiency]. 54 61
11446186 2001
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Variations for Immunoglobulin Alpha Deficiency

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Expression for Immunoglobulin Alpha Deficiency

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Search GEO for disease gene expression data for Immunoglobulin Alpha Deficiency.
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Pathways for Immunoglobulin Alpha Deficiency

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Pathways related to Immunoglobulin Alpha Deficiency according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.62 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B PIGR MBL2
2
Akt Signaling 63
Show member pathways
 13.26 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG CD4
3
Cytokine Signaling in Immune system 65
Show member pathways
 13.2 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B HLA-DQB1 CD40LG
4
PAK Pathway 63
Show member pathways
 13.13 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG CD4
5
Immune response NFAT in immune response 22
Show member pathways
 12.43 ICOSLG HLA-DQB1 CD79A CD40LG CD4
6
Allograft rejection 1 36
Show member pathways
 12.4 TNFSF13B TNFRSF13C TNFRSF13B PIGR ICOSLG HLA-DQB1
7
TRAF Pathway 63
Show member pathways
 12.39 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG
8
NF-kappaB Signaling 4
12.31 TNFSF13B TNFRSF25 CD79A CD40LG CD19 AICDA
9
ICos-ICosL Pathway in T-Helper Cell 63
Show member pathways
 12.22 ICOSLG HLA-DQB1 CD40LG CD4
10
Cell adhesion molecules (CAMs) 36
11.9 ICOSLG HLA-DQB1 CD40LG CD4
11
Hematopoietic cell lineage 36
11.75 HLA-DQB1 CD4 CD19
12
Staphylococcus aureus infection 36
11.72 MBL2 HLA-DQB1 C4A
13
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 22
Show member pathways
 11.53 TNFSF13B TNFRSF25 TNFRSF13B CD40LG
14
IL4-mediated signaling events 1
11.49 PIGR CD40LG AICDA
15
T Cell Co-Signaling Pathway: Ligand-Receptor Interactions 64
11.43 TNFRSF25 ICOSLG CD40LG
16
B Cell Development Pathways 64
11.28 TNFRSF13B CD40LG CD4 CD19
17
TNFs bind their physiological receptors 65
11.06 TNFSF13B TNFRSF25 TNFRSF13B
18
Primary immunodeficiency 36
10.75 TNFRSF13C TNFRSF13B CD79A CD40LG CD4 CD19
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GO Terms for Immunoglobulin Alpha Deficiency

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Cellular components related to Immunoglobulin Alpha Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B TGM2 PIGR
2 external side of plasma membrane GO:0009897 9.17 TNFRSF13C ICOSLG CD79A CD40LG CD4 CD19

Biological processes related to Immunoglobulin Alpha Deficiency according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.85 TNFSF13B JCHAIN HLA-DQB1 CD40LG CD4 CCR6
2 cell surface receptor signaling pathway GO:0007166 9.8 TNFRSF25 TNFRSF13B CD79A CD4
3 regulation of immune response GO:0050776 9.76 TNFSF13B ICOSLG CD40LG CD19
4 B cell differentiation GO:0030183 9.65 CD79A CD40LG AICDA
5 positive regulation of T cell proliferation GO:0042102 9.62 TNFSF13B TNFRSF13C CD40LG CD4
6 T cell costimulation GO:0031295 9.56 TNFSF13B TNFRSF13C ICOSLG CD40LG
7 tumor necrosis factor-mediated signaling pathway GO:0033209 9.55 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG
8 adaptive immune response GO:0002250 9.5 TNFRSF13C TNFRSF13B JCHAIN ICOSLG CD79A CD4
9 immunoglobulin secretion GO:0048305 9.43 TNFSF13B CD40LG
10 B cell costimulation GO:0031296 9.4 TNFSF13B TNFRSF13C
11 immune system process GO:0002376 9.32 TNFSF13B TNFRSF13C TNFRSF13B MBL2 ICOSLG HLA-DQB1

Molecular functions related to Immunoglobulin Alpha Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 8.92 TNFRSF25 TNFRSF13B CD4 CCR6
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Sources for Immunoglobulin Alpha Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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