MCID: IMM003
MIFTS: 41

Immunoglobulin Alpha Deficiency

Categories: Immune diseases

Aliases & Classifications for Immunoglobulin Alpha Deficiency

MalaCards integrated aliases for Immunoglobulin Alpha Deficiency:

Name: Immunoglobulin Alpha Deficiency 12 15
Iga Deficiency 12 76 29 55 44
Immunoglobulin a Deficiency 73
Gamma-a-Globulin Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060025
MeSH 44 D017098
SNOMED-CT 68 29260007
UMLS 73 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 immunoglobulin a deficiency 1 and transient hypogammaglobulinemia of infancy. An important gene associated with Immunoglobulin Alpha Deficiency is CD79A (CD79a Molecule), and among its related pathways/superpathways are Innate Immune System and Development Angiotensin activation of ERK. The drug Immunoglobulin A has been mentioned in the context of this disorder. Affiliated tissues include b cells, testes and liver, and related phenotypes are hematopoietic system and immune system

Wikipedia : 76 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 270)
# Related Disease Score Top Affiliating Genes
1 immunoglobulin a deficiency 1 34.0 CD40LG CD79A
2 transient hypogammaglobulinemia of infancy 30.8 CD40LG CD79A
3 anemia, autoimmune hemolytic 30.4 CD40LG CD79A
4 pulmonary hemosiderosis 30.3 CD40LG CD79A
5 thymic dysplasia 30.2 CD40LG CD79A
6 common variable immunodeficiency 30.1 CD40LG CD79A MBL2 TNFRSF13B
7 glomerulonephritis 30.0 C4A CD40LG CD79A
8 iga glomerulonephritis 29.0 C4A CD40LG CD79A MBL2
9 autoimmune disease 28.5 CD40LG CD79A HLA-DQB1 MBL2 TNFRSF13B
10 dermatitis herpetiformis 28.5 CD40LG CD79A HLA-DQB1 TGM2
11 systemic lupus erythematosus 28.2 C4A CD40LG CD79A HLA-DQB1 MBL2
12 celiac disease 1 26.8 CD40LG CD79A HLA-DQB1 TGM2 TNFRSF25 TOR1A
13 epilepsy-telangiectasia 10.9
14 secretory component deficiency 10.9
15 selective igg deficiency disease 10.8 CD40LG CD79A
16 c1q nephropathy 10.8 CD40LG CD79A
17 meningovascular neurosyphilis 10.8 CD40LG CD79A
18 alpha chain disease 10.8 CD40LG CD79A
19 brill-zinsser disease 10.8 CD40LG CD79A
20 exudative glomerulonephritis 10.8 CD40LG CD79A
21 cork-handlers' disease 10.8 CD40LG CD79A
22 salpingo-oophoritis 10.8 CD40LG CD79A
23 early yaws 10.8 CD40LG CD79A
24 ventilation pneumonitis 10.8 CD40LG CD79A
25 chronic interstitial cystitis 10.8 CD40LG CD79A
26 axillary adenitis 10.8 CD40LG CD79A
27 cryofibrinogenemia 10.8 CD40LG CD79A
28 trichostrongyloidiasis 10.8 CD40LG CD79A
29 subacute bacterial endocarditis 10.8 CD40LG CD79A
30 heterophyiasis 10.8 CD40LG CD79A
31 orbital granuloma 10.8 CD40LG CD79A
32 hyperglobulinemic purpura 10.8 CD40LG CD79A
33 gastroduodenitis 10.8 CD40LG CD79A
34 bacterial conjunctivitis 10.8 CD40LG CD79A
35 heavy chain disease 10.8 CD40LG CD79A
36 ophthalmia neonatorum 10.8 CD40LG CD79A
37 parotid disease 10.8 CD40LG CD79A
38 cerebral arteritis 10.8 CD40LG CD79A
39 selective immunoglobulin deficiency disease 10.8 CD40LG CD79A
40 geniculate herpes zoster 10.8 CD40LG CD79A
41 erythema elevatum diutinum 10.8 CD40LG CD79A
42 sporotrichosis 10.8 CD40LG CD79A
43 fallopian tube disease 10.8 CD40LG CD79A
44 hyperimmunoglobulin syndrome 10.8 CD40LG CD79A
45 congenital syphilis 10.8 CD40LG CD79A
46 polyclonal hypergammaglobulinemia 10.8 CD40LG CD79A
47 monoclonal paraproteinemia 10.8 CD40LG CD79A
48 salpingitis 10.8 CD40LG CD79A
49 ocular toxoplasmosis 10.8 CD40LG CD79A
50 dysgammaglobulinemia 10.8 CD40LG 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

MGI Mouse Phenotypes related to Immunoglobulin Alpha Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 TNFRSF25 CD40LG CD79A HLA-DQB1 MBL2 TGM2
2 immune system MP:0005387 9.5 TNFRSF13B TNFRSF25 CD40LG CD79A HLA-DQB1 MBL2
3 renal/urinary system MP:0005367 9.1 CD40LG CD79A HLA-DQB1 MBL2 TGM2 TNFRSF13B

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 B-Lymphocyte Stimulator (BLyS) To Treat Selective IgA Deficiency Completed NCT00024934 Phase 1 B-Lymphocyte Stimulator (BLyS)
2 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
3 Use of Low-level Laser Therapy on Children Aged One to Five Years With Energy-protein Malnutrition Enrolling by invitation NCT03355313 Not Applicable

Search NIH Clinical Center for Immunoglobulin Alpha Deficiency

Cochrane evidence based reviews: iga deficiency

Genetic Tests for Immunoglobulin Alpha Deficiency

Genetic tests related to Immunoglobulin Alpha Deficiency:

# Genetic test Affiliating Genes
1 Iga Deficiency 29

Anatomical Context for Immunoglobulin Alpha Deficiency

MalaCards organs/tissues related to Immunoglobulin Alpha Deficiency:

41
B Cells, Testes, Liver, T Cells, Thyroid, Pituitary, Bone

Publications for Immunoglobulin Alpha Deficiency

Articles related to Immunoglobulin Alpha Deficiency:

(show top 50) (show all 198)
# Title Authors Year
1
Terminally differentiated memory T cells are increased in patients with common variable immunodeficiency and selective IgA deficiency. ( 29204088 )
2017
2
Secretory IgA Deficiency in Individual Small Airways Is Associated with Persistent Inflammation and Remodeling. ( 27911098 )
2017
3
Collagenous Gastritis in a Young Female With IgA Deficiency. ( 28496534 )
2017
4
Severe Aspergillus Pneumonia and Pulmonary Artery Hypertension in a Child with Autosomal Recessive Chronic Granulomatous Disease and Selective IgA Deficiency. ( 28342009 )
2017
5
Reply to comment on: DICER1-negative pleuropulmonary blastoma in a patient with selective IgA deficiency. ( 27443584 )
2016
6
Recurrent Intestinal Obstruction in a Patient with Selective IgA Deficiency. ( 28090187 )
2016
7
Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. ( 27723758 )
2016
8
Disseminated cat-scratch disease in an adult with selective IgA deficiency. ( 27257449 )
2016
9
Comment on: DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 27238822 )
2016
10
A rare case of Addison's disease, hepatitis, thyreoiditis, positive IgG anti-tissue transglutaminase antibodies and partial IgA deficiency. ( 27536208 )
2016
11
Unusual presentation: Concurrent IgA deficiency and idiopathic pulmonary hemosiderosis. ( 27120139 )
2016
12
DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 26686196 )
2016
13
A selective IgA deficiency in a boy who presented recurrent parotitis. ( 24883201 )
2014
14
Prediction of the evolution of common variable immunodeficiency: HLA typing for patients with selective IgA deficiency. ( 25011360 )
2014
15
Early diagnosis of celiac disease in IgA deficient children: contribution of a point-of-care test. ( 25376178 )
2014
16
The dog as a genetic model for immunoglobulin A (IgA) deficiency: identification of several breeds with low serum IgA concentrations. ( 24935667 )
2014
17
Mutations in toll-like receptor 3 are associated with elevated levels of rotavirus-specific IgG antibodies in IgA-deficient but not IgA-sufficient individuals. ( 24371259 )
2014
18
Selective IgA deficiency mimicking Churg-Strauss syndrome and hypereosinophilic syndrome: a case report. ( 23544278 )
2013
19
A novel mutation in the complement component 3 gene in a patient with selective IgA deficiency. ( 22996269 )
2013
20
Asthma and risk of selective IgA deficiency or common variable immunodeficiency: a population-based case-control study. ( 23910409 )
2013
21
B-cell subsets in patients with transient hypogammaglobulinemia of infancy, partial IgA deficiency, and selective IgM deficiency. ( 23654075 )
2013
22
IgA deficiency in primary antiphospholipid syndrome. ( 23809213 )
2013
23
AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency. ( 23731676 )
2013
24
Clinical manifestation of selective IgA deficiency evidence after anti-TNF-I+ treatment in a psoriatic arthritis patient: case report. ( 22472782 )
2012
25
An uncommon association of antiphospholipid syndrome, selective IgA deficiency and resistant-to-treatment relapsing polychondritis: efficacy of infliximab. ( 23241130 )
2012
26
Oral and faecal lactobacilli and their expression of mannose-specific adhesins in individuals with and without IgA deficiency. ( 22018813 )
2012
27
Pili annulati coincident with alopecia areata, autoimmune thyroid disease, and primary IgA deficiency: case report and considerations on the literature. ( 23275769 )
2012
28
Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report. ( 21769769 )
2011
29
Lack of association between IgA deficiency and respiratory atopy in young male adults. ( 21753142 )
2011
30
Concomitant autoimmunity in myasthenia gravis--lack of association with IgA deficiency. ( 21669464 )
2011
31
Monosomy 18p and immunologic dysfunction: review of the literature and a new case report with thyroiditis, IgA deficiency, and systemic lupus erythematosus. ( 21383556 )
2011
32
Prevalence of IgA deficiency in children with juvenile rheumatoid arthritis. ( 21358013 )
2011
33
IgA deficiency and the MHC: assessment of relative risk and microheterogeneity within the HLA A1 B8, DR3 (8.1) haplotype. ( 19834793 )
2010
34
Cross-reactive antibodies induced by xenogeneic IgA can cause selective IgA deficiency. ( 19824874 )
2010
35
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. ( 20694011 )
2010
36
Selective IgA deficiency. ( 20101521 )
2010
37
[IgA subclass and IgA deficiency]. ( 19564710 )
2009
38
B-lymphocyte stimulator and a proliferation-inducing ligand serum levels in IgA-deficient patients with and without celiac disease. ( 19758161 )
2009
39
Selective IgA deficiency in early life: association to infections and allergic diseases during childhood. ( 19541543 )
2009
40
The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency. ( 19020530 )
2009
41
Allele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentration. ( 20007591 )
2009
42
Massive empyema associated with transient hypogammaglobulinemia of infancy and IgA deficiency. ( 19399287 )
2009
43
Interleukin-21 restores immunoglobulin production ex vivo in patients with common variable immunodeficiency and selective IgA deficiency. ( 19738033 )
2009
44
Various expression patterns of alpha1 and alpha2 genes in IgA deficiency. ( 19153537 )
2009
45
Nodular lymphoid hyperplasia and histologic changes mimicking celiac disease, collagenous sprue, and lymphocytic colitis in a patient with selective IgA deficiency. ( 19286327 )
2009
46
Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. ( 18202833 )
2008
47
Autosomal recessive chronic granulomatous disease, IgA deficiency and refractory autoimmune thrombocytopenia responding to Anti-CD20 monoclonal antibody. ( 18780954 )
2008
48
Progression of selective IgA deficiency to common variable immunodeficiency. ( 18520152 )
2008
49
An evaluation of the DiaMed assays for immunoglobulin A antibodies (anti-IgA) and IgA deficiency. ( 18657081 )
2008
50
Human leukocyte antigens (HLA) associated with selective IgA deficiency in Iran and Sweden. ( 19052350 )
2008

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

GO Terms for Immunoglobulin Alpha Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.43 CD79A TNFRSF13B TNFRSF25
2 immune system process GO:0002376 9.26 C4A CD79A MBL2 TNFRSF13B
3 B cell proliferation GO:0042100 9.16 CD40LG CD79A
4 tumor necrosis factor-mediated signaling pathway GO:0033209 8.8 CD40LG TNFRSF13B TNFRSF25

Sources for Immunoglobulin Alpha Deficiency

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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