MCID: IMM003
MIFTS: 47

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 b cell deficiency. 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. Affiliated tissues include b cells, testes and liver, and related phenotypes are cellular and hematopoietic 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 230)
# Related Disease Score Top Affiliating Genes
1 immunoglobulin a deficiency 1 33.2 CD40LG CD79A TNFRSF13B
2 b cell deficiency 31.6 CD40LG TGM2 TNFRSF13B
3 common variable immunodeficiency 30.6 CD40LG CD79A MBL2 TNFRSF13B
4 glomerulonephritis 30.3 C4A CD40LG CD79A
5 transient hypogammaglobulinemia of infancy 30.0 CD40LG TNFRSF13B
6 autoimmune disease 29.9 CD40LG CD79A HLA-DQB1 MBL2 TNFRSF13B
7 iga glomerulonephritis 29.8 CD40LG CD79A MBL2
8 systemic lupus erythematosus 29.8 C4A CD40LG CD79A HLA-DQB1 MBL2 TNFRSF13B
9 cryptosporidiosis 29.7 CD40LG CD79A
10 anemia, autoimmune hemolytic 29.6 CD40LG HP
11 celiac disease 1 29.6 CD79A HLA-DQB1 HP TGM2 TNFRSF25 TOR1A
12 dermatitis herpetiformis 29.5 CD79A HLA-DQB1 TGM2
13 macroglobulinemia 29.5 CD40LG TNFRSF13B
14 epilepsy-telangiectasia 11.4
15 secretory component deficiency 11.1
16 arthritis 10.3
17 c1q nephropathy 10.2 CD40LG CD79A
18 rheumatoid arthritis 10.2
19 dysgammaglobulinemia 10.2 CD79A TNFRSF13B
20 heparin-induced thrombocytopenia 10.2 CD40LG CD79A
21 sporotrichosis 10.2 CD40LG CD79A
22 congenital syphilis 10.2 CD40LG CD79A
23 syphilis 10.2 CD40LG CD79A
24 secondary syphilis 10.2 CD40LG CD79A
25 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.2 CD40LG CD79A
26 ocular toxoplasmosis 10.2 CD40LG CD79A
27 persistent generalized lymphadenopathy 10.2 CD40LG CD79A
28 immunodeficiency with hyper-igm, type 1 10.2 CD40LG CD79A
29 vulvovaginal candidiasis 10.2 CD79A MBL2
30 cryptococcal meningitis 10.2 MBL2 TNFRSF13B
31 pustulosis palmaris et plantaris 10.2 CD40LG CD79A
32 hypersensitivity vasculitis 10.2 C4A CD79A
33 microscopic colitis 10.2 CD79A HLA-DQB1
34 hypersensitivity reaction type iii disease 10.2 C4A CD79A
35 dysgerminoma of ovary 10.2 CD40LG CD79A
36 lupus erythematosus 10.2
37 complement deficiency 10.1 C4A MBL2
38 ocular cicatricial pemphigoid 10.1 CD79A HLA-DQB1
39 juvenile dermatitis herpetiformis 10.1 C4A TNFRSF25
40 immunoglobulin g deficiency 10.1 CD40LG CD79A MBL2
41 hepatitis 10.1
42 marginal zone b-cell lymphoma 10.1 CD40LG CD79A
43 herpes gestationis 10.1 C4A TNFRSF25
44 immune deficiency disease 10.1 CD40LG CD79A TNFRSF13B
45 dengue disease 10.1 CD40LG MBL2
46 meningoencephalitis 10.1 CD40LG CD79A
47 cryoglobulinemia 10.1 CD40LG CD79A
48 acute endophthalmitis 10.1 C4A TOR1A
49 congenital toxoplasmosis 10.1 CD40LG CD79A HLA-DQB1
50 toxoplasmosis 10.1 CD40LG CD79A HLA-DQB1

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 cellular MP:0005384 9.87 CD40LG CD79A HLA-DQB1 HP TGM2 TNFRSF25
2 hematopoietic system MP:0005397 9.86 CD40LG CD79A HLA-DQB1 HP MBL2 TGM2
3 homeostasis/metabolism MP:0005376 9.76 CD40LG CD79A HLA-DQB1 HP MBL2 TGM2
4 immune system MP:0005387 9.56 CD40LG CD79A HLA-DQB1 HP MBL2 TGM2
5 renal/urinary system MP:0005367 9.17 CD40LG CD79A HLA-DQB1 HP MBL2 TGM2

Drugs & Therapeutics for Immunoglobulin Alpha Deficiency

Search Clinical Trials , 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, Thyroid, Lung, T Cells, Bone Marrow

Publications for Immunoglobulin Alpha Deficiency

Articles related to Immunoglobulin Alpha Deficiency:

(show top 50) (show all 700)
# Title Authors Year
1
TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency. ( 30090215 )
2018
2
Salivary IgA deficiency in a patient with cystic fibrosis (genotype M470V/V520F). ( 30392531 )
2018
3
Meningitis, spondylodiscitis, pneumonia and septic shock with Streptococcus pneumoniae in a previously healthy woman with isolated IgG2-, IgG3-, IgA-deficiency and monoclonal gammopathy of undetermined significance. ( 29721239 )
2018
4
IgA Deficiency and Nephrotic Syndrome in Children. ( 30096909 )
2018
5
Neutropenia and monocytopenia in recurrent anaphylactoid reactions after red blood cell transfusions in a woman with immunoglobulin A (IgA) deficiency and anti-IgA. ( 30178875 )
2018
6
Antibiotic treatment-induced secondary IgA deficiency enhances susceptibility to Pseudomonas aeruginosa pneumonia. ( 29771684 )
2018
7
50 Years Ago in The Journal of Pediatrics: Comment on IgA Deficiency and Susceptibility to Infection. ( 29246330 )
2018
8
The association of IgA deficiency on infection rate, self-perceived health, and levels of C-reactive protein in healthy blood donors. ( 29484746 )
2018
9
Possible Autoimmune Primary Ovarian Insufficiency in Patients with Selective IgA Deficiency. ( 29527861 )
2018
10
Microbial ecology perturbation in human IgA deficiency. ( 29720448 )
2018
11
Transitional B Cells and TLR9 Responses Are Defective in Selective IgA Deficiency. ( 29755476 )
2018
12
Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children. ( 30269248 )
2018
13
Immune/microbial interface perturbation in human IgA deficiency. ( 30449244 )
2018
14
Terminally differentiated memory T cells are increased in patients with common variable immunodeficiency and selective IgA deficiency. ( 29204088 )
2017
15
Secretory IgA Deficiency in Individual Small Airways Is Associated with Persistent Inflammation and Remodeling. ( 27911098 )
2017
16
Collagenous Gastritis in a Young Female With IgA Deficiency. ( 28496534 )
2017
17
Severe Aspergillus Pneumonia and Pulmonary Artery Hypertension in a Child with Autosomal Recessive Chronic Granulomatous Disease and Selective IgA Deficiency. ( 28342009 )
2017
18
Nodular lymphoid hyperplasia complicated with ileal Burkitt's lymphoma in an adult patient with selective IgA deficiency. ( 27940199 )
2017
19
Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management. ( 27763681 )
2017
20
The long and winding road to IgA deficiency: causes and consequences. ( 27776452 )
2017
21
A Hairline Crack in the Levee: Focal Secretory IgA Deficiency as a First Step toward Emphysema. ( 28409678 )
2017
22
Hypersensitivity transfusion reactions due to IgA deficiency are rare according to French hemovigilance data. ( 28414063 )
2017
23
Allergic and autoimmune disorders in families with selective IgA deficiency. ( 28425252 )
2017
24
Oral manifestations of selective IgA-deficiency: review and case-report. ( 28691461 )
2017
25
Brucella Causing Liver Abscess in a Child with Selective IgA Deficiency. ( 28737147 )
2017
26
Increased IgE in IgA Deficiency. ( 28941669 )
2017
27
Reply to comment on: DICER1-negative pleuropulmonary blastoma in a patient with selective IgA deficiency. ( 27443584 )
2016
28
Recurrent Intestinal Obstruction in a Patient with Selective IgA Deficiency. ( 28090187 )
2016
29
Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. ( 27723758 )
2016
30
Disseminated cat-scratch disease in an adult with selective IgA deficiency. ( 27257449 )
2016
31
Comment on: DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 27238822 )
2016
32
A rare case of Addison's disease, hepatitis, thyreoiditis, positive IgG anti-tissue transglutaminase antibodies and partial IgA deficiency. ( 27536208 )
2016
33
Unusual presentation: Concurrent IgA deficiency and idiopathic pulmonary hemosiderosis. ( 27120139 )
2016
34
DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 26686196 )
2016
35
Treatment of a patient with Kawasaki disease associated with selective IgA deficiency by continuous infusion of cyclosporine A without intravenous immunoglobulin. ( 29090883 )
2016
36
Selective IgA deficiency presenting with chest pain. ( 26583451 )
2016
37
Risk of Infections Among 2100 Individuals with IgA Deficiency: a Nationwide Cohort Study. ( 26739713 )
2016
38
Monogenic mutations associated with IgA deficiency. ( 27266541 )
2016
39
False-Positive Radioactive Iodine Uptake Mimicking Miliary Lung Metastases in a Patient Affected by Papillary Thyroid Cancer and IgA Deficiency. ( 27540434 )
2016
40
Population-Based Screening for Selective Immunoglobulin A (IgA) Deficiency in Lithuanian Children Using a Rapid Antibody-Based Fingertip Test. ( 27920422 )
2016
41
Burden of Skin Disease in Selective IgA Deficiency and Common Variable Immunodeficiency. ( 26727769 )
2015
42
IgA deficiency in wolves from Canada and Scandinavia. ( 25530092 )
2015
43
Development of a new immunochromatographic assay using gold nanoparticles for screening of IgA deficiency. ( 25530146 )
2015
44
The higher frequency of IgA deficiency among Swedish twins is not explained by HLA haplotypes. ( 25569265 )
2015
45
IgA deficiency and risk of cancer: a population-based matched cohort study. ( 25589342 )
2015
46
RAG1 deficiency may present clinically as selective IgA deficiency. ( 25739914 )
2015
47
Brief Report: IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency. ( 25777993 )
2015
48
Autoimmunity in patients with selective IgA deficiency. ( 25997304 )
2015
49
Genome-Wide Analyses Suggest Mechanisms Involving Early B-Cell Development in Canine IgA Deficiency. ( 26225558 )
2015
50
Correction: Genome-Wide Analyses Suggest Mechanisms Involving Early B-Cell Development in Canine IgA Deficiency. ( 26367283 )
2015

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 9.54 CD79A TNFRSF13B TNFRSF25
2 immune system process GO:0002376 9.46 C4A CD79A MBL2 TNFRSF13B
3 acute-phase response GO:0006953 9.32 HP MBL2
4 B cell proliferation GO:0042100 9.26 CD40LG CD79A
5 response to oxidative stress GO:0006979 9.13 MBL2 NDUFA6 TOR1A
6 tumor necrosis factor-mediated signaling pathway GO:0033209 8.8 CD40LG TNFRSF13B TNFRSF25

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

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.8 C4A HP MBL2

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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