MCID: IMM003
MIFTS: 40

Immunoglobulin Alpha Deficiency

Categories: Genetic diseases, Immune diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Immunoglobulin Alpha Deficiency

MalaCards integrated aliases for Immunoglobulin Alpha Deficiency:

Name: Immunoglobulin Alpha Deficiency 11 14
Iga Deficiency 11 75 53 43
Immunoglobulin a Deficiency 71
Gamma-a-Globulin Deficiency 11

Classifications:



External Ids:

Disease Ontology 11 DOID:0060025
MeSH 43 D017098
SNOMED-CT 68 29260007
UMLS 71 C0162538

Summaries for Immunoglobulin Alpha Deficiency

Disease Ontology: 11 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 immunoglobulin g deficiency. An important gene associated with Immunoglobulin Alpha Deficiency is TNFRSF13B (TNF Receptor Superfamily Member 13B), and among its related pathways/superpathways are Akt Signaling and PAK Pathway. The drug Immunoglobulin A has been mentioned in the context of this disorder. Affiliated tissues include bone marrow, t cells and b cells, and related phenotypes are Reduced mammosphere formation and homeostasis/metabolism

Wikipedia: 75 Selective immunoglobulin A (IgA) deficiency (SIgAD) is a genetic immunodeficiency, a type of... more...

Related Diseases for Immunoglobulin Alpha Deficiency

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

(show top 50) (show all 630)
# Related Disease Score Top Affiliating Genes
1 primary agammaglobulinemia 31.3 TNFRSF13C TNFRSF13B
2 immunoglobulin g deficiency 31.1 MBL2 CD79A CD40LG
3 glomerulonephritis 31.0 MBL2 CD79A CD40LG C4A
4 agammaglobulinemia 30.9 ICOSLG CD79A CD40LG CD19
5 thrombocytopenic purpura, autoimmune 30.8 ICOSLG CD4 CCR6
6 lupus erythematosus 30.8 TNFRSF13C CD40LG CCR6 C4A
7 thyroiditis 30.7 TNFRSF25 HLA-DQB1 HLA-DQA1
8 agammaglobulinemia, x-linked 30.6 TNFRSF13B ICOSLG CD79A CD40LG CD19 CCR6
9 vitiligo-associated multiple autoimmune disease susceptibility 1 30.6 ICOSLG CD4 CCR6
10 sarcoidosis 1 30.6 ICOSLG HLA-DQB1 CD4 CCR6
11 pernicious anemia 30.6 TOR1A TNFRSF25 ICOSLG CD4 CCR6
12 spondyloarthropathy 1 30.5 ICOSLG HP CD79A CD40LG CD4 CCR6
13 juvenile rheumatoid arthritis 30.4 ICOSLG HP HLA-DQB1 HLA-DQA1 CD4 CCR6
14 immune deficiency disease 30.4 TNFSF13B TNFRSF13B MBL2 ICOSLG HLA-DQB1 CD79A
15 vasculitis 30.4 TNFSF13B MBL2 CD79A CD40LG
16 sjogren syndrome 30.4 TNFSF13B ICOSLG CD79A CD40LG CCR6
17 giardiasis 30.4 TOR1A TGM2 CD79A CD4
18 membranous nephropathy 30.4 MBL2 HP HLA-DQA1 CD79A
19 hashimoto thyroiditis 30.4 TNFRSF25 ICOSLG CD4 CCR6
20 deficiency anemia 30.4 TOR1A ICOSLG HP CD4 CD19 CCR6
21 chickenpox 30.4 CD4 CD19 CCR6
22 viral infectious disease 30.3 MBL2 ICOSLG CD40LG CD4 CCR6
23 immunodeficiency, common variable, 2 30.3 TNFRSF13C TNFRSF13B CD19
24 thrombocytopenia due to platelet alloimmunization 30.3 TNFSF13B TNFRSF13B ICOSLG CD4 CD19 CCR6
25 systemic scleroderma 30.3 TNFSF13B ICOSLG CD4 CD19 CCR6
26 transient hypogammaglobulinemia of infancy 30.3 TNFRSF13C TNFRSF13B CD40LG CD19
27 chronic mucocutaneous candidiasis 30.3 ICOSLG CD4 CCR6
28 transient hypogammaglobulinemia 30.3 TNFRSF13C TNFRSF13B CD40LG CD19
29 thymic dysplasia 30.3 ICOSLG CD4
30 membranoproliferative glomerulonephritis 30.3 MBL2 CD79A C4A
31 common variable immunodeficiency 30.3 TNFSF13B TNFRSF13C TNFRSF13B MBL2 ICOSLG HLA-DQB1
32 reactive arthritis 30.3 HP CD79A CCR6
33 anterior uveitis 30.3 ICOSLG CD4 CCR6
34 thrombocytopenia 30.2 TNFSF13B MBL2 HP CD79A CD40LG CD4
35 cholangitis 30.2 HP HLA-DQB1 HLA-DQA1
36 type 1 diabetes mellitus 30.2 TNFRSF25 ICOSLG HLA-DQB1 HLA-DQA1 CD79A CCR6
37 iga glomerulonephritis 30.2 PIGR MBL2 CD79A CD40LG CCR6 C4A
38 henoch-schoenlein purpura 30.2 ICOSLG CD79A CD4 CCR6
39 food allergy 30.2 ICOSLG CD4 CCR6
40 common cold 30.2 ICOSLG CD40LG CD4 CCR6
41 proliferative glomerulonephritis 30.1 TNFSF13B ICOSLG CD79A CCR6
42 rubella 30.1 HLA-DQB1 HLA-DQA1 CD40LG
43 cholangitis, primary sclerosing 30.1 TNFRSF25 ICOSLG CD4 CCR6
44 dysgammaglobulinemia 30.1 TOR1A TNFRSF13B ICOSLG CD79A CD4
45 autoimmune polyendocrine syndrome 30.1 ICOSLG CD4 CCR6
46 scabies 30.0 MBL2 CD4 CCR6
47 collagenous colitis 30.0 TOR1A TGM2 CD4
48 erythema infectiosum 30.0 CD40LG CD4
49 duodenitis 30.0 TOR1A TGM2 CD4
50 microscopic colitis 30.0 TOR1A TGM2 CD4

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



Diseases related to Immunoglobulin Alpha Deficiency

Symptoms & Phenotypes for Immunoglobulin Alpha Deficiency

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 AICDA C4A CCR6 CD19 CD4 CD40LG
2 no effect GR00402-S-2 10.18 AICDA C4A CCR6 CD19 CD4 CD40LG
3 Reduced mammosphere formation GR00396-S 9.5 C4A CCR6 CD79A HLA-DQA1 TNFRSF13B TNFRSF13C

MGI Mouse Phenotypes related to Immunoglobulin Alpha Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 C4A CCR6 CD19 CD4 CD40LG CD79A
2 immune system MP:0005387 9.93 AICDA C4A CCR6 CD19 CD4 CD40LG
3 renal/urinary system MP:0005367 9.91 C4A CD19 CD40LG CD79A HLA-DQB1 HP
4 hematopoietic system MP:0005397 9.6 AICDA C4A CCR6 CD19 CD4 CD40LG

Drugs & Therapeutics for Immunoglobulin Alpha Deficiency

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulin A Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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)

Search NIH Clinical Center for Immunoglobulin Alpha Deficiency

Cochrane evidence based reviews: iga deficiency

Genetic Tests for Immunoglobulin Alpha Deficiency

Anatomical Context for Immunoglobulin Alpha Deficiency

Organs/tissues related to Immunoglobulin Alpha Deficiency:

MalaCards : Bone Marrow, T Cells, B Cells, Liver, Lung, Neutrophil, Bone

Publications for Immunoglobulin Alpha Deficiency

Articles related to Immunoglobulin Alpha Deficiency:

(show top 50) (show all 1901)
# Title Authors PMID Year
1
Selective IgA deficiency. 53 62
20101521 2010
2
The outcome of patients with unclassified hypogammaglobulinemia in early childhood. 53 62
19196447 2009
3
B-lymphocyte stimulator and a proliferation-inducing ligand serum levels in IgA-deficient patients with and without celiac disease. 53 62
19758161 2009
4
Adenosine deaminase in patients with primary immunodeficiency syndromes: the analysis of serum ADA1 and ADA2 activities. 53 62
19026999 2009
5
Clinical presentation of celiac disease and the diagnostic accuracy of serologic markers in children. 53 62
18923841 2009
6
[IgA subclass and IgA deficiency]. 53 62
19564710 2009
7
Massive empyema associated with transient hypogammaglobulinemia of infancy and IgA deficiency. 53 62
19399287 2009
8
Various expression patterns of alpha1 and alpha2 genes in IgA deficiency. 53 62
19153537 2009
9
The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency. 53 62
19020530 2009
10
Antibodies against synthetic deamidated gliadin peptides for celiac disease diagnosis and follow-up in children. 53 62
18988751 2009
11
An evaluation of the DiaMed assays for immunoglobulin A antibodies (anti-IgA) and IgA deficiency. 53 62
18657081 2008
12
Selective immunoglobulin A deficiency in Iranian blood donors: prevalence, laboratory and clinical findings. 53 62
18780950 2008
13
Celiac disease in patients with type-1 diabetes mellitus screened by tissue transglutaminase antibodies in northwest of Iran. 53 62
19902043 2008
14
Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. 53 62
18202833 2008
15
Alterations in humoral immunity in relatives of patients with common variable immunodeficiency. 53 62
18714534 2008
16
Association of HLA-*08:DRB1*03 with immunoglobulin A-deficiency. 53 62
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. 53 62
17504501 2007
18
The clinical significance of immunoglobulin A deficiency. 53 62
17362578 2007
19
Increases in serum immunoglobulins to age-related normal levels in children with IgA and/or IgG subclass deficiency. 53 62
17338791 2007
20
Population screening for coeliac disease in a low prevalence area in Italy. 53 62
17101572 2006
21
TACI mutation in common variable immunodeficiency and IgA deficiency. 53 62
16899196 2006
22
Do we need to measure total serum IgA to exclude IgA deficiency in coeliac disease? 53 62
16489174 2006
23
Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study. 53 62
16803619 2006
24
Dermatitis herpetiformis and partial IgA deficiency. 53 62
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. 53 62
16758339 2006
26
Immunoglobulins and inflammatory cytokines in nasal secretions in humoral immunodeficiencies. 53 62
16467712 2006
27
Celiac disease in North Italian patients with autoimmune Addison's disease. 53 62
16452541 2006
28
Rheumatoid arthritis in a patient with common variable immunodeficiency: difficulty in diagnosis and therapy. 53 62
15940551 2006
29
The prevalence of humoral immunodeficiency in refractory rhinosinusitis: a retrospective analysis. 53 62
17256402 2006
30
An unusual case of hemoperitoneum owing to acute splenic torsion in a child with immunoglobulin deficiency. 53 62
16534164 2006
31
TACI is mutant in common variable immunodeficiency and IgA deficiency. 53 62
16007086 2005
32
Frequent false positive beta human chorionic gonadotropin tests in immunoglobulin A deficiency. 53 62
15996198 2005
33
IgA deficiency: clinical correlates with IgG subclass and mannan-binding lectin deficiencies. 53 62
16116926 2005
34
IgA deficiency and membranous glomerulonephritis presenting as nephrotic syndrome. 53 62
15711951 2005
35
IgA and/or IgG subclass deficiency in children with recurrent respiratory infections and its relationship with chronic pulmonary damage. 53 62
15864886 2005
36
Diagnosing celiac disease: a comparison of human tissue transglutaminase antibodies with antigliadin and antiendomysium antibodies. 53 62
15184223 2004
37
Molecular analysis of B-cell differentiation in selective or partial IgA deficiency. 53 62
15086392 2004
38
Gender, age and seasonal effects on IgA deficiency: a study of 7293 Caucasians. 53 62
15025682 2004
39
Oral manifestations in selective IgA deficiency. 53 62
16451448 2004
40
Immunoglobulin subclasses and HLA alleles in immunoglobulin A deficiency. 53 62
12841399 2003
41
The syndrome of chronic mucocutaneous candidiasis with selective antibody deficiency. 53 62
12602677 2003
42
IgA deficiency with membranous glomerulonephritis: a case report and review. 53 62
12649548 2003
43
Evaluation of the relevance of humoral immunodeficiencies in a pediatric population affected by recurrent infections. 53 62
12485321 2002
44
Celiac disease and immunoglobulin a deficiency: how effective are the serological methods of diagnosis? 53 62
12414763 2002
45
MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes. 53 62
12370403 2002
46
Immunoglobulin G autoantibodies against tissue-transglutaminase. A sensitive, cost-effective assay for the screening of celiac disease. 53 62
12482193 2002
47
Central MHC genes affect IgA levels in the human: reciprocal effects in IgA deficiency and IgA nephropathy. 53 62
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. 53 62
11590388 2001
49
Physiology of IgA and IgA deficiency. 53 62
11720003 2001
50
[IgA deficiency]. 53 62
11446186 2001

Variations for Immunoglobulin Alpha Deficiency

Expression for Immunoglobulin Alpha Deficiency

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

Pathways for Immunoglobulin Alpha Deficiency

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG CD4
2
Show member pathways
13.09 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG CD4
3
Show member pathways
13.09 CD4 CD40LG HLA-DQA1 HLA-DQB1 TNFRSF13B TNFRSF13C
4
Show member pathways
13.08 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B PIGR MBL2
5
Show member pathways
12.41 ICOSLG HLA-DQB1 HLA-DQA1 CD79A
6
Show member pathways
12.4 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG
7
Show member pathways
12.19 ICOSLG HLA-DQB1 HLA-DQA1 CD4
8 12.15 AICDA CD19 CD40LG CD79A TNFRSF25 TNFSF13B
9
Show member pathways
11.93 ICOSLG HLA-DQB1 HLA-DQA1 CD40LG CD4
10 11.64 HLA-DQB1 HLA-DQA1 CD40LG C4A
11
Show member pathways
11.6 HLA-DQB1 HLA-DQA1 CD4
12
Show member pathways
11.49 TNFSF13B TNFRSF25 TNFRSF13B CD40LG
13 11.45 AICDA CD40LG PIGR
14 11.34 HLA-DQB1 HLA-DQA1 CD40LG CD4
15 11.28 ICOSLG CD79A CD40LG CD19 C4A AICDA

GO Terms for Immunoglobulin Alpha Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.35 CCR6 CD19 CD4 CD40LG CD79A HLA-DQA1
2 membrane GO:0016020 10.35 CCR6 CD19 CD4 CD40LG CD79A HLA-DQA1
3 plasma membrane GO:0005887 10.03 CCR6 CD19 CD4 CD40LG HLA-DQA1 PIGR
4 plasma membrane GO:0005886 10.03 CCR6 CD19 CD4 CD40LG HLA-DQA1 PIGR
5 secretory IgA immunoglobulin complex GO:0071751 9.56 PIGR JCHAIN
6 external side of plasma membrane GO:0009897 9.53 TNFRSF13C MBL2 ICOSLG CD79A CD40LG CD4

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

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 9.95 TNFSF13B TNFRSF25 TNFRSF13C
2 immune response GO:0006955 9.93 CCR6 CD4 CD40LG HLA-DQA1 HLA-DQB1 JCHAIN
3 B cell proliferation GO:0042100 9.91 TNFSF13B CD79A CD40LG
4 adaptive immune response GO:0002250 9.89 TNFRSF13C TNFRSF13B JCHAIN ICOSLG HLA-DQB1 HLA-DQA1
5 T cell costimulation GO:0031295 9.88 TNFSF13B TNFRSF13C CD40LG
6 B cell differentiation GO:0030183 9.86 TNFSF13B CD79A CD40LG AICDA
7 positive regulation of T cell activation GO:0050870 9.77 CD4 HLA-DQA1 HLA-DQB1
8 B cell costimulation GO:0031296 9.62 TNFSF13B TNFRSF13C
9 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.46 HLA-DQB1 HLA-DQA1
10 immune system process GO:0002376 9.4 TNFSF13B TNFRSF13C TNFRSF13B MBL2 ICOSLG HP

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 9.65 TNFRSF25 TNFRSF13C TNFRSF13B CD4 CCR6
2 MHC class II protein complex binding GO:0023026 9.02 HLA-DQB1 HLA-DQA1 CD4

Sources for Immunoglobulin Alpha Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....