MCID: IMM003
MIFTS: 44

Immunoglobulin Alpha Deficiency

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunoglobulin Alpha Deficiency

MalaCards integrated aliases for Immunoglobulin Alpha Deficiency:

Name: Immunoglobulin Alpha Deficiency 12 15
Iga Deficiency 12 74 54 44
Immunoglobulin a Deficiency 71
Gamma-a-Globulin Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060025
MeSH 44 D017098
SNOMED-CT 67 29260007
UMLS 71 C0162538

Summaries for Immunoglobulin Alpha Deficiency

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 TNFRSF13B (TNF Receptor Superfamily Member 13B), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Immunologic Factors and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and t cells, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 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 530)
# Related Disease Score Top Affiliating Genes
1 primary agammaglobulinemia 31.0 TNFRSF13C TNFRSF13B
2 glomerulonephritis 30.9 MBL2 CD79A CD40LG C4A
3 lupus erythematosus 30.7 TNFRSF13C HLA-DQB1 CD40LG C4A
4 agammaglobulinemia 30.7 TNFRSF13B ICOSLG CD79A CD40LG CD19
5 transient hypogammaglobulinemia 30.6 TNFRSF13B CD19
6 spondyloarthropathy 1 30.6 ICOSLG HP CD40LG CCR6
7 vitiligo-associated multiple autoimmune disease susceptibility 1 30.5 ICOSLG CD4 CCR6
8 sarcoidosis 1 30.4 ICOSLG HLA-DQB1 CD4 CCR6
9 thrombocytopenic purpura, autoimmune 30.4 ICOSLG CD4 CCR6
10 immunoglobulin g deficiency 30.4 MBL2 CD79A CD40LG
11 systemic scleroderma 30.4 ICOSLG CD40LG CD4 CCR6
12 dysgammaglobulinemia 30.4 TNFRSF13B ICOSLG CD79A
13 respiratory papillomatosis, juvenile recurrent, congenital 30.4 MBL2 CD79A CD40LG
14 vasculitis 30.4 TNFSF13B MBL2 CD79A CD40LG
15 transient hypogammaglobulinemia of infancy 30.4 TNFRSF13C TNFRSF13B CD19
16 bacterial infectious disease 30.3 MBL2 ICOSLG CD4 CCR6 C4A
17 chronic graft versus host disease 30.3 TNFSF13B CD79A
18 evans' syndrome 30.1 HP CD4 CCR6
19 sjogren syndrome 30.1 TNFSF13B CD79A CD40LG
20 dermatitis herpetiformis 30.1 TGM2 HLA-DQB1 CD79A
21 guillain-barre syndrome 30.1 HP HLA-DQB1 CD79A
22 chickenpox 30.1 ICOSLG CD4 CD19 CCR6
23 giardiasis 30.1 TOR1A TGM2 PIGR CD79A CD4
24 connective tissue disease 30.0 TNFSF13B ICOSLG CD40LG CD4 CCR6
25 thrombocytopenia 30.0 TNFSF13B TNFRSF13C TNFRSF13B MBL2 HP CD79A
26 cryoglobulinemia 30.0 TNFSF13B CD79A CD40LG
27 microscopic colitis 30.0 TOR1A TGM2 HLA-DQB1 CD79A
28 granulomatous hepatitis 30.0 TNFRSF13B CD4
29 b cell deficiency 30.0 TOR1A TNFSF13B TNFRSF13C TNFRSF13B TGM2 ICOSLG
30 disease by infectious agent 30.0 MBL2 ICOSLG HP CD4 CCR6
31 duodenitis 29.9 TOR1A TGM2 CD4
32 scabies 29.9 MBL2 CD4 CCR6
33 crohn's disease 29.9 ICOSLG HP CD4 CCR6
34 immunodeficiency, common variable, 2 29.9 TNFRSF13C TNFRSF13B CD19
35 common cold 29.9 ICOSLG CD4 CCR6
36 cryptosporidiosis 29.9 MBL2 CD79A CD40LG CD4
37 monoclonal gammopathy of uncertain significance 29.9 ICOSLG CD19 CCR6
38 iga glomerulonephritis 29.8 PIGR MBL2 CD79A CD40LG CCR6 C4A
39 lymphadenitis 29.8 ICOSLG CD4 CCR6
40 macroglobulinemia 29.8 TNFSF13B TNFRSF13C TNFRSF13B CD40LG
41 celiac disease 1 29.8 TOR1A TNFRSF25 TGM2 ICOSLG HP HLA-DQB1
42 parotid disease 29.8 TNFRSF25 CD4
43 autoimmune disease 29.8 TNFSF13B TNFRSF13C TNFRSF13B TGM2 MBL2 ICOSLG
44 immunoglobulin a deficiency 1 29.7 TOR1A TNFRSF25 TNFRSF13B TGM2 MSH5 CD79A
45 combined immunodeficiency 29.7 ICOSLG CD40LG CD4 CD19 CCR6
46 cholangitis, primary sclerosing 29.7 TNFRSF25 ICOSLG CD4 CCR6
47 keratoconjunctivitis sicca 29.7 TNFSF13B CD79A CD4 CCR6
48 primary biliary cholangitis 29.6 ICOSLG CD79A CD40LG CD4 CCR6
49 t cell deficiency 29.6 ICOSLG CD4 CD19 CCR6
50 immune deficiency disease 29.6 TNFSF13B TNFRSF13B MBL2 ICOSLG HLA-DQB1 CD79A

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:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.02 MBL2
2 Decreased viability GR00221-A-1 10.02 MSH5
3 Decreased viability GR00221-A-3 10.02 MSH5
4 Decreased viability GR00221-A-4 10.02 MSH5
5 Decreased viability GR00240-S-1 10.02 CD40LG
6 Decreased viability GR00249-S 10.02 CD19 CD79A HP TNFRSF13B
7 Decreased viability GR00301-A 10.02 MSH5
8 Decreased viability GR00342-S-2 10.02 CD4
9 Decreased viability GR00381-A-1 10.02 CD19 CD79A HLA-DQB1 TNFRSF13B
10 Decreased viability GR00381-A-3 10.02 CD79A HLA-DQB1
11 Decreased viability GR00386-A-1 10.02 CD79A ICOSLG
12 Decreased viability GR00402-S-2 10.02 HLA-DQB1 PIGR TNFRSF25 TNFSF13B
13 Reduced mammosphere formation GR00396-S 9.17 C4A CCR6 CD79A MSH5 TNFRSF13B TNFRSF13C

MGI Mouse Phenotypes related to Immunoglobulin Alpha Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.28 AICDA CCR6 CD19 CD4 CD40LG CD79A
2 homeostasis/metabolism MP:0005376 10.13 AICDA CCR6 CD19 CD4 CD40LG CD79A
3 cellular MP:0005384 10.11 AICDA CD19 CD4 CD40LG CD79A HLA-DQB1
4 immune system MP:0005387 10.11 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

Drugs & Therapeutics for Immunoglobulin Alpha Deficiency

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 2
2 Immunoglobulin G Phase 2
3 Anti-Infective Agents Phase 2
4 Immunoglobulins Phase 2
5 Anti-Bacterial Agents Phase 2
6 Vaccines Phase 2
7 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
8 Immunoglobulins, Intravenous Phase 2
9 Antibodies Phase 2
10 Immunoglobulin A Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 PNEUMOCELL - Conjugated Pneumococcal Vaccination in Patients With Immunoglobulin G-deficiency Completed NCT01847781 Phase 2
2 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

MalaCards organs/tissues related to Immunoglobulin Alpha Deficiency:

40
Liver, Bone, T Cells, Bone Marrow, B Cells, Thyroid, Neutrophil

Publications for Immunoglobulin Alpha Deficiency

Articles related to Immunoglobulin Alpha Deficiency:

(show top 50) (show all 1810)
# Title Authors PMID Year
1
Selective IgA deficiency. 61 54
20101521 2010
2
The outcome of patients with unclassified hypogammaglobulinemia in early childhood. 61 54
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. 61 54
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]. 61 54
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. 61 54
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. 61 54
17504501 2007
18
Increases in serum immunoglobulins to age-related normal levels in children with IgA and/or IgG subclass deficiency. 61 54
17338791 2007
19
The clinical significance of immunoglobulin A deficiency. 54 61
17362578 2007
20
Population screening for coeliac disease in a low prevalence area in Italy. 61 54
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. 61 54
16758339 2006
26
Immunoglobulins and inflammatory cytokines in nasal secretions in humoral immunodeficiencies. 61 54
16467712 2006
27
Celiac disease in North Italian patients with autoimmune Addison's disease. 61 54
16452541 2006
28
Rheumatoid arthritis in a patient with common variable immunodeficiency: difficulty in diagnosis and therapy. 61 54
15940551 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. 61 54
17256402 2006
31
TACI is mutant in common variable immunodeficiency and IgA deficiency. 61 54
16007086 2005
32
Frequent false positive beta human chorionic gonadotropin tests in immunoglobulin A deficiency. 61 54
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. 61 54
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. 61 54
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. 61 54
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. 61 54
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. 61 54
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]. 61 54
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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B PIGR MBL2
2
Show member pathways
13.24 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG CD4
3
Show member pathways
13.18 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B HLA-DQB1 CD40LG
4
Show member pathways
13.11 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG CD4
5
Show member pathways
12.43 ICOSLG HLA-DQB1 CD79A CD40LG CD4
6
Show member pathways
12.4 TNFSF13B TNFRSF13C TNFRSF13B PIGR ICOSLG HLA-DQB1
7
Show member pathways
12.36 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG
8 12.36 TNFSF13B TNFRSF25 CD79A CD40LG CD19 AICDA
9
Show member pathways
12.22 ICOSLG HLA-DQB1 CD40LG CD4
10 11.93 ICOSLG HLA-DQB1 CD40LG CD4
11 11.77 TNFSF13B TNFRSF13C CD40LG
12 11.74 HLA-DQB1 CD4 CD19
13 11.72 MBL2 HLA-DQB1 C4A
14
Show member pathways
11.63 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG
15
Show member pathways
11.57 TNFSF13B TNFRSF25 TNFRSF13B CD40LG
16 11.49 PIGR CD40LG AICDA
17 11.45 TNFSF13B TNFRSF13C TNFRSF13B ICOSLG CD40LG CCR6
18 10.75 TNFRSF13C TNFRSF13B CD79A CD40LG CD4 CD19

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 integral component of plasma membrane GO:0005887 9.8 TNFRSF25 TNFRSF13B PIGR CD40LG CD4 CD19
2 plasma membrane GO:0005886 9.8 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B TGM2 PIGR
3 external side of plasma membrane GO:0009897 9.17 TNFRSF13C ICOSLG CD79A CD40LG CD4 CD19
4 secretory IgA immunoglobulin complex GO:0071751 9.16 PIGR JCHAIN

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.85 TNFSF13B JCHAIN HLA-DQB1 CD40LG CD4 CCR6
2 positive regulation of T cell proliferation GO:0042102 9.62 TNFSF13B TNFRSF13C CD40LG CD4
3 B cell differentiation GO:0030183 9.61 CD79A CD40LG AICDA
4 T cell costimulation GO:0031295 9.56 TNFSF13B TNFRSF13C ICOSLG CD40LG
5 adaptive immune response GO:0002250 9.56 TNFRSF13C TNFRSF13B JCHAIN ICOSLG HLA-DQB1 CD79A
6 tumor necrosis factor-mediated signaling pathway GO:0033209 9.55 TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG
7 B cell costimulation GO:0031296 9.4 TNFSF13B TNFRSF13C
8 immune system process GO:0002376 9.36 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 9.02 TNFRSF25 TNFRSF13C TNFRSF13B CD4 CCR6

Sources for Immunoglobulin Alpha Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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