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 77 56 45
Immunoglobulin a Deficiency 74
Gamma-a-Globulin Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060025
MeSH 45 D017098
SNOMED-CT 69 29260007
UMLS 74 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 TNFRSF13B (TNF Receptor Superfamily Member 13B), 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, thyroid and liver, and related phenotypes are cellular and hematopoietic system

Wikipedia : 77 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 247)
# Related Disease Score Top Affiliating Genes
1 immunoglobulin a deficiency 1 33.5 CD40LG CD79A TNFRSF13B
2 b cell deficiency 31.8 CD40LG TGM2 TNFRSF13B
3 common variable immunodeficiency 30.6 CD40LG CD79A MBL2 TNFRSF13B
4 glomerulonephritis 30.4 C4A CD40LG CD79A
5 transient hypogammaglobulinemia of infancy 30.2 CD40LG TNFRSF13B
6 cryptosporidiosis 29.9 CD40LG CD79A
7 iga glomerulonephritis 29.9 CD40LG CD79A MBL2
8 anemia, autoimmune hemolytic 29.7 CD40LG HP
9 celiac disease 1 29.6 CD79A HLA-DQB1 TGM2 TNFRSF25 TOR1A
10 systemic lupus erythematosus 29.6 C4A CD40LG CD79A HLA-DQB1 MBL2 TNFRSF13B
11 dermatitis herpetiformis 29.5 CD79A HLA-DQB1 TGM2
12 guillain-barre syndrome 29.5 CD79A HLA-DQB1 HP
13 macroglobulinemia 29.4 CD40LG TNFRSF13B
14 epilepsy-telangiectasia 11.4
15 secretory component deficiency 11.1
16 c1q nephropathy 10.4 CD40LG CD79A
17 heparin-induced thrombocytopenia 10.3 CD40LG CD79A
18 dysgammaglobulinemia 10.3 CD79A TNFRSF13B
19 sporotrichosis 10.3 CD40LG CD79A
20 congenital syphilis 10.3 CD40LG CD79A
21 syphilis 10.3 CD40LG CD79A
22 secondary syphilis 10.3 CD40LG CD79A
23 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.3 CD40LG CD79A
24 ocular toxoplasmosis 10.3 CD40LG CD79A
25 persistent generalized lymphadenopathy 10.3 CD40LG CD79A
26 immunodeficiency with hyper-igm, type 1 10.3 CD40LG CD79A
27 arthritis 10.3
28 vulvovaginal candidiasis 10.3 CD79A MBL2
29 cryptococcal meningitis 10.3 MBL2 TNFRSF13B
30 pustulosis palmaris et plantaris 10.3 CD40LG CD79A
31 hypersensitivity vasculitis 10.3 C4A CD79A
32 microscopic colitis 10.3 CD79A HLA-DQB1
33 dysgerminoma of ovary 10.3 CD40LG CD79A
34 hypersensitivity reaction type iii disease 10.3 C4A CD79A
35 rheumatoid arthritis 10.2
36 complement deficiency 10.2 C4A MBL2
37 marginal zone b-cell lymphoma 10.2 CD40LG CD79A
38 juvenile dermatitis herpetiformis 10.2 C4A TNFRSF25
39 immune deficiency disease 10.2 CD40LG CD79A TNFRSF13B
40 pelvic inflammatory disease 10.2 CD40LG HLA-DQB1
41 ocular cicatricial pemphigoid 10.2 CD79A HLA-DQB1
42 agammaglobulinemia, x-linked 10.2 CD40LG CD79A
43 lupus erythematosus 10.2
44 immunoglobulin g deficiency 10.2 CD40LG CD79A MBL2
45 dengue disease 10.1 CD40LG MBL2
46 meningoencephalitis 10.1 CD40LG CD79A
47 congenital toxoplasmosis 10.1 CD40LG CD79A HLA-DQB1
48 hepatitis 10.1
49 toxoplasmosis 10.1 CD40LG CD79A HLA-DQB1
50 acute endophthalmitis 10.1 C4A TOR1A

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:

47
# 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

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

Anatomical Context for Immunoglobulin Alpha Deficiency

MalaCards organs/tissues related to Immunoglobulin Alpha Deficiency:

42
B Cells, Thyroid, Liver, Bone, Lung, T Cells, Testes

Publications for Immunoglobulin Alpha Deficiency

Articles related to Immunoglobulin Alpha Deficiency:

(show top 50) (show all 706)
# Title Authors Year
1
Resolution of celiac disease, IgA deficiency and platelet refractoriness after allogeneic bone marrow transplantation for acute leukemia. ( 30655374 )
2019
2
The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature. ( 30885031 )
2019
3
Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children. ( 30269248 )
2019
4
Selective IgA deficiency in humans is associated with reduced gut microbial diversity. ( 30707969 )
2019
5
PJP Infection in a Patient with High Output Ileostomy and Selective IgA Deficiency. ( 30887041 )
2019
6
TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency. ( 30090215 )
2018
7
Salivary IgA deficiency in a patient with cystic fibrosis (genotype M470V/V520F). ( 30392531 )
2018
8
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
9
IgA Deficiency and Nephrotic Syndrome in Children. ( 30096909 )
2018
10
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
11
Antibiotic treatment-induced secondary IgA deficiency enhances susceptibility to Pseudomonas aeruginosa pneumonia. ( 29771684 )
2018
12
50 Years Ago in The Journal of Pediatrics: Comment on IgA Deficiency and Susceptibility to Infection. ( 29246330 )
2018
13
The association of IgA deficiency on infection rate, self-perceived health, and levels of C-reactive protein in healthy blood donors. ( 29484746 )
2018
14
Possible Autoimmune Primary Ovarian Insufficiency in Patients with Selective IgA Deficiency. ( 29527861 )
2018
15
Microbial ecology perturbation in human IgA deficiency. ( 29720448 )
2018
16
Transitional B Cells and TLR9 Responses Are Defective in Selective IgA Deficiency. ( 29755476 )
2018
17
Immune/microbial interface perturbation in human IgA deficiency. ( 30449244 )
2018
18
Severe Aspergillus Pneumonia and Pulmonary Artery Hypertension in a Child with Autosomal Recessive Chronic Granulomatous Disease and Selective IgA Deficiency. ( 28342009 )
2017
19
Collagenous Gastritis in a Young Female With IgA Deficiency. ( 28496534 )
2017
20
Terminally differentiated memory T cells are increased in patients with common variable immunodeficiency and selective IgA deficiency. ( 29204088 )
2017
21
Reply to comment on: DICER1-negative pleuropulmonary blastoma in a patient with selective IgA deficiency. ( 27443584 )
2017
22
Nodular lymphoid hyperplasia complicated with ileal Burkitt's lymphoma in an adult patient with selective IgA deficiency. ( 27940199 )
2017
23
Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management. ( 27763681 )
2017
24
The long and winding road to IgA deficiency: causes and consequences. ( 27776452 )
2017
25
Secretory IgA Deficiency in Individual Small Airways Is Associated with Persistent Inflammation and Remodeling. ( 27911098 )
2017
26
A Hairline Crack in the Levee: Focal Secretory IgA Deficiency as a First Step toward Emphysema. ( 28409678 )
2017
27
Hypersensitivity transfusion reactions due to IgA deficiency are rare according to French hemovigilance data. ( 28414063 )
2017
28
Allergic and autoimmune disorders in families with selective IgA deficiency. ( 28425252 )
2017
29
Oral manifestations of selective IgA-deficiency: review and case-report. ( 28691461 )
2017
30
Brucella Causing Liver Abscess in a Child with Selective IgA Deficiency. ( 28737147 )
2017
31
Increased IgE in IgA Deficiency. ( 28941669 )
2017
32
Disseminated cat-scratch disease in an adult with selective IgA deficiency. ( 27257449 )
2016
33
Unusual presentation: Concurrent IgA deficiency and idiopathic pulmonary hemosiderosis. ( 27120139 )
2016
34
Recurrent Intestinal Obstruction in a Patient with Selective IgA Deficiency. ( 28090187 )
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
Comment on: DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 27238822 )
2016
37
DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 26686196 )
2016
38
False-Positive Radioactive Iodine Uptake Mimicking Miliary Lung Metastases in a Patient Affected by Papillary Thyroid Cancer and IgA Deficiency. ( 27540434 )
2016
39
Selective IgA deficiency presenting with chest pain. ( 26583451 )
2016
40
Risk of Infections Among 2100 Individuals with IgA Deficiency: a Nationwide Cohort Study. ( 26739713 )
2016
41
Monogenic mutations associated with IgA deficiency. ( 27266541 )
2016
42
A rare case of Addison's disease, hepatitis, thyreoiditis, positive IgG anti-tissue transglutaminase antibodies and partial IgA deficiency. ( 27536208 )
2016
43
Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. ( 27723758 )
2016
44
Population-Based Screening for Selective Immunoglobulin A (IgA) Deficiency in Lithuanian Children Using a Rapid Antibody-Based Fingertip Test. ( 27920422 )
2016
45
Burden of Skin Disease in Selective IgA Deficiency and Common Variable Immunodeficiency. ( 26727769 )
2015
46
IgA deficiency in wolves from Canada and Scandinavia. ( 25530092 )
2015
47
Development of a new immunochromatographic assay using gold nanoparticles for screening of IgA deficiency. ( 25530146 )
2015
48
The higher frequency of IgA deficiency among Swedish twins is not explained by HLA haplotypes. ( 25569265 )
2015
49
IgA deficiency and risk of cancer: a population-based matched cohort study. ( 25589342 )
2015
50
RAG1 deficiency may present clinically as selective IgA deficiency. ( 25739914 )
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 8.32 HP

Sources for Immunoglobulin Alpha Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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