MCID: IMM003
MIFTS: 42

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 75 55 44
Immunoglobulin a Deficiency 72
Gamma-a-Globulin Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060025
MeSH 44 D017098
SNOMED-CT 68 29260007
UMLS 72 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 b cell deficiency and immune deficiency disease. An important gene associated with Immunoglobulin Alpha Deficiency is CD40LG (CD40 Ligand), and among its related pathways/superpathways are Innate Immune System and Development Angiotensin activation of ERK. The drugs Antigen-Antibody Complex and Penicillin G have been mentioned in the context of this disorder. Affiliated tissues include b cells, testes and t cells, and related phenotypes are cellular and hematopoietic system

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 397)
# Related Disease Score Top Affiliating Genes
1 b cell deficiency 32.0 TNFRSF13B TGM2 CD40LG
2 immune deficiency disease 31.1 TNFRSF13B CD79A CD40LG
3 common variable immunodeficiency 31.1 TNFRSF13B CD79A CD40LG
4 glomerulonephritis 30.6 CD79A CD40LG C4A
5 transient hypogammaglobulinemia of infancy 30.6 TNFRSF13B CD40LG
6 immunoglobulin g deficiency 30.5 CD79A CD40LG
7 dysgammaglobulinemia 30.4 TNFRSF13B CD79A
8 immunoglobulin a deficiency 1 30.4 TNFRSF13B CD79A CD40LG
9 anemia, autoimmune hemolytic 30.4 HP CD40LG
10 agammaglobulinemia, x-linked 30.4 CD79A CD40LG
11 cryptosporidiosis 30.2 CD79A CD40LG
12 microscopic colitis 30.1 HLA-DQB1 CD79A
13 cryoglobulinemia 29.8 CD79A CD40LG
14 macroglobulinemia 29.7 TNFRSF13B CD40LG
15 systemic lupus erythematosus 29.7 TNFRSF13B HLA-DQB1 CD79A CD40LG C4A
16 dermatitis herpetiformis 29.5 TGM2 HLA-DQB1 CD79A
17 iga glomerulonephritis 29.5 CD79A CD40LG
18 rubella 29.5 HLA-DQB1 CD40LG
19 guillain-barre syndrome 29.4 HP HLA-DQB1 CD79A
20 celiac disease 1 29.2 TOR1A TNFRSF25 TGM2 HLA-DQB1 CD79A
21 secretory component deficiency 11.5
22 epilepsy-telangiectasia 11.5
23 c1q nephropathy 10.5 CD79A CD40LG
24 heparin-induced thrombocytopenia 10.5 CD79A CD40LG
25 autoimmune disease 10.5
26 congenital syphilis 10.5 CD79A CD40LG
27 syphilis 10.5 CD79A CD40LG
28 sporotrichosis 10.5 CD79A CD40LG
29 secondary syphilis 10.5 CD79A CD40LG
30 ocular toxoplasmosis 10.5 CD79A CD40LG
31 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.5 CD79A CD40LG
32 persistent generalized lymphadenopathy 10.5 CD79A CD40LG
33 immunodeficiency with hyper-igm, type 1 10.5 CD79A CD40LG
34 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
35 pustulosis palmaris et plantaris 10.4 CD79A CD40LG
36 dysgerminoma of ovary 10.4 CD79A CD40LG
37 hypersensitivity vasculitis 10.4 CD79A C4A
38 hypersensitivity reaction type iii disease 10.4 CD79A C4A
39 marginal zone b-cell lymphoma 10.3 CD79A CD40LG
40 pelvic inflammatory disease 10.3 HLA-DQB1 CD40LG
41 ige responsiveness, atopic 10.3
42 juvenile dermatitis herpetiformis 10.3 TNFRSF25 C4A
43 meningoencephalitis 10.3 CD79A CD40LG
44 agammaglobulinemia 10.3
45 primary agammaglobulinemia 10.3
46 lupus erythematosus 10.2
47 ocular cicatricial pemphigoid 10.2 HLA-DQB1 CD79A
48 rheumatoid arthritis 10.2
49 purpura 10.2
50 thyroiditis 10.2

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 9.8 CD40LG CD79A HLA-DQB1 HP TGM2 TNFRSF25
2 hematopoietic system MP:0005397 9.7 CD40LG CD79A HLA-DQB1 HP TGM2 TNFRSF13B
3 immune system MP:0005387 9.5 CD40LG CD79A HLA-DQB1 HP TGM2 TNFRSF13B
4 renal/urinary system MP:0005367 9.1 CD40LG CD79A HLA-DQB1 HP TGM2 TNFRSF13B

Drugs & Therapeutics for Immunoglobulin Alpha Deficiency

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

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antigen-Antibody Complex Phase 4
2
Penicillin G Approved, Vet_approved Phase 2 61-33-6 5904
3
Sertraline Approved Phase 2 79617-96-2 68617
4
Azithromycin Approved Phase 2 83905-01-5 447043 55185
5 Serotonin Uptake Inhibitors Phase 2
6 Antidepressive Agents Phase 2
7 Neurotransmitter Uptake Inhibitors Phase 2
8 Antitubercular Agents Phase 2
9 Antibiotics, Antitubercular Phase 2
10 Serotonin Agents Phase 2
11 Penicillin G Procaine Phase 2
12 Penicillin G Benzathine Phase 2
13
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
14
Dopamine Approved 51-61-6, 62-31-7 681
15
Penicillin V Approved, Vet_approved 87-08-1 6869
16
Haloperidol Approved 52-86-8 3559
17 Immunoglobulin A, Secretory
18 Anesthetics
19 Acidophilus
20 Antibodies
21 Immunologic Factors
22 Immunoglobulins
23 Neurotransmitter Agents
24 penicillins
25 Anti-Infective Agents
26 gamma-Globulins
27 Psychotropic Drugs
28 Immunoglobulins, Intravenous
29 Rho(D) Immune Globulin
30 Anti-Bacterial Agents
31 Antiemetics
32 Tranquilizing Agents
33 Central Nervous System Depressants
34 Gastrointestinal Agents
35 Dopamine Agents
36 Peripheral Nervous System Agents
37 Haloperidol decanoate
38 Antipsychotic Agents
39 Autonomic Agents
40 Dopamine Antagonists
41 Immunoglobulin A

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of OctaplasLG® on Endothelial Integrity in Patients Undergoing Emergency Surgery for Thoracic Aortic Dissections - a Randomized, Controlled, Single-blinded Investigator-initiated Pilot Trial Completed NCT02253082 Phase 4 OctaplasLG®
2 Antibiotic Treatment and Intravenous Immunoglobulin Double-blind, Randomized, Placebo-controlled Trial for PANDAS Unknown status NCT01769027 Phase 2 Sertraline+Antibiotic (penicillin/azithromycin);Sertraline+placebo
3 Impaired Secretory IgA and Mucosal Immunity in Cystic Fibrosis: Contribution to Lung Pathology and Impaired Defence Against Bacterial Infection Unknown status NCT02308267
4 Characterisation of the Salivary and Faecal Microbiome in Patients With Recurrent Aphthous Stomatitis Before and After Treatment With Probiotics Unknown status NCT02976922
5 Intravenous Immunoglobulins as Effective Treatment in Sydenham's Chorea Completed NCT00615797 standard interventions penicillin VK and haloperidol
6 Celiac Disease and Infertility Among Men and Women in Denmark: Prevalence of Celiac Disease Among Men and Women Treated in Danish Public Fertility Clinics Completed NCT02451449
7 Studies of Immune Regulation in Patients With Common Variable Immunodeficiency and Related Humoral Immunodeficiency Syndromes Recruiting NCT00001244
8 Use of Low-level Laser Therapy on Children Aged One to Five Years With Energy-protein Malnutrition Enrolling by invitation NCT03355313
9 The Diagnostic Performance of Anti-Tissue Transglutaminase IgA Antibodies Serum Level for Detection of Patients With Celiac Disease Not yet recruiting NCT04019223
10 Infant Nutrition and Risk of Celiac Disease: Proposal for an Intervention, Prospective Multicenter Study Terminated NCT00819819

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:

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

Publications for Immunoglobulin Alpha Deficiency

Articles related to Immunoglobulin Alpha Deficiency:

(show top 50) (show all 1772)
# Title Authors PMID Year
1
Selective IgA deficiency. 9 38
20101521 2010
2
The outcome of patients with unclassified hypogammaglobulinemia in early childhood. 9 38
19196447 2009
3
B-lymphocyte stimulator and a proliferation-inducing ligand serum levels in IgA-deficient patients with and without celiac disease. 9 38
19758161 2009
4
Adenosine deaminase in patients with primary immunodeficiency syndromes: the analysis of serum ADA1 and ADA2 activities. 9 38
19026999 2009
5
Clinical presentation of celiac disease and the diagnostic accuracy of serologic markers in children. 9 38
18923841 2009
6
[IgA subclass and IgA deficiency]. 9 38
19564710 2009
7
Massive empyema associated with transient hypogammaglobulinemia of infancy and IgA deficiency. 9 38
19399287 2009
8
Various expression patterns of alpha1 and alpha2 genes in IgA deficiency. 9 38
19153537 2009
9
The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency. 9 38
19020530 2009
10
Antibodies against synthetic deamidated gliadin peptides for celiac disease diagnosis and follow-up in children. 9 38
18988751 2009
11
An evaluation of the DiaMed assays for immunoglobulin A antibodies (anti-IgA) and IgA deficiency. 9 38
18657081 2008
12
Selective immunoglobulin A deficiency in Iranian blood donors: prevalence, laboratory and clinical findings. 9 38
18780950 2008
13
Celiac disease in patients with type-1 diabetes mellitus screened by tissue transglutaminase antibodies in northwest of Iran. 9 38
19902043 2008
14
Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. 9 38
18202833 2008
15
Alterations in humoral immunity in relatives of patients with common variable immunodeficiency. 9 38
18714534 2008
16
Association of HLA-*08:DRB1*03 with immunoglobulin A-deficiency. 9 38
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. 9 38
17504501 2007
18
Increases in serum immunoglobulins to age-related normal levels in children with IgA and/or IgG subclass deficiency. 9 38
17338791 2007
19
The clinical significance of immunoglobulin A deficiency. 9 38
17362578 2007
20
Population screening for coeliac disease in a low prevalence area in Italy. 9 38
17101572 2006
21
TACI mutation in common variable immunodeficiency and IgA deficiency. 9 38
16899196 2006
22
Do we need to measure total serum IgA to exclude IgA deficiency in coeliac disease? 9 38
16489174 2006
23
Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study. 9 38
16803619 2006
24
Dermatitis herpetiformis and partial IgA deficiency. 9 38
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. 9 38
16758339 2006
26
Celiac disease in North Italian patients with autoimmune Addison's disease. 9 38
16452541 2006
27
Rheumatoid arthritis in a patient with common variable immunodeficiency: difficulty in diagnosis and therapy. 9 38
15940551 2006
28
Immunoglobulins and inflammatory cytokines in nasal secretions in humoral immunodeficiencies. 9 38
16467712 2006
29
The prevalence of humoral immunodeficiency in refractory rhinosinusitis: a retrospective analysis. 9 38
17256402 2006
30
An unusual case of hemoperitoneum owing to acute splenic torsion in a child with immunoglobulin deficiency. 9 38
16534164 2006
31
TACI is mutant in common variable immunodeficiency and IgA deficiency. 9 38
16007086 2005
32
Frequent false positive beta human chorionic gonadotropin tests in immunoglobulin A deficiency. 9 38
15996198 2005
33
IgA deficiency: clinical correlates with IgG subclass and mannan-binding lectin deficiencies. 9 38
16116926 2005
34
IgA deficiency and membranous glomerulonephritis presenting as nephrotic syndrome. 9 38
15711951 2005
35
IgA and/or IgG subclass deficiency in children with recurrent respiratory infections and its relationship with chronic pulmonary damage. 9 38
15864886 2005
36
Diagnosing celiac disease: a comparison of human tissue transglutaminase antibodies with antigliadin and antiendomysium antibodies. 9 38
15184223 2004
37
Molecular analysis of B-cell differentiation in selective or partial IgA deficiency. 9 38
15086392 2004
38
Gender, age and seasonal effects on IgA deficiency: a study of 7293 Caucasians. 9 38
15025682 2004
39
Oral manifestations in selective IgA deficiency. 9 38
16451448 2004
40
Immunoglobulin subclasses and HLA alleles in immunoglobulin A deficiency. 9 38
12841399 2003
41
The syndrome of chronic mucocutaneous candidiasis with selective antibody deficiency. 9 38
12602677 2003
42
IgA deficiency with membranous glomerulonephritis: a case report and review. 9 38
12649548 2003
43
Evaluation of the relevance of humoral immunodeficiencies in a pediatric population affected by recurrent infections. 9 38
12485321 2002
44
Celiac disease and immunoglobulin a deficiency: how effective are the serological methods of diagnosis? 9 38
12414763 2002
45
MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes. 9 38
12370403 2002
46
Immunoglobulin G autoantibodies against tissue-transglutaminase. A sensitive, cost-effective assay for the screening of celiac disease. 9 38
12482193 2002
47
Central MHC genes affect IgA levels in the human: reciprocal effects in IgA deficiency and IgA nephropathy. 9 38
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. 9 38
11590388 2001
49
Physiology of IgA and IgA deficiency. 9 38
11720003 2001
50
[IgA deficiency]. 9 38
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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 TNFRSF25 TNFRSF13B HP HLA-DQB1 CD79A CD40LG
2
Show member pathways
12.38 TNFRSF25 TNFRSF13B CD79A CD40LG
3
Show member pathways
12.3 TNFRSF13B HLA-DQB1 CD40LG C4A
4 12.17 TNFRSF25 CD79A CD40LG
5 11.42 HLA-DQB1 C4A
6 11.22 TNFRSF25 CD40LG
7 11.13 TNFRSF13B CD40LG
8
Show member pathways
11 TNFRSF25 TNFRSF13B CD40LG
9 10.63 TNFRSF25 TNFRSF13B
10 10.37 TNFRSF13B CD79A CD40LG

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 9.33 TNFRSF25 TNFRSF13B CD79A
2 B cell proliferation GO:0042100 8.96 CD79A CD40LG
3 tumor necrosis factor-mediated signaling pathway GO:0033209 8.8 TNFRSF25 TNFRSF13B CD40LG

Sources for Immunoglobulin Alpha Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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