IGAD1
MCID: IMM154
MIFTS: 45

Immunoglobulin a Deficiency 1 (IGAD1)

Categories: Gastrointestinal diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunoglobulin a Deficiency 1

MalaCards integrated aliases for Immunoglobulin a Deficiency 1:

Name: Immunoglobulin a Deficiency 1 57 20 70
Immunoglobulin a Deficiency 57 12 13 70
Selective Iga Deficiency Disease 12 15 17
Igad1 57 20 29
Immunoglobulin a, Selective Deficiency of 57 20
Gamma-a-Globulin, Selective Deficiency of 57 20
Selective Immunoglobulin a Deficiency 12 70
Iga, Selective Deficiency of 57 20
Selective Iga Immunodeficiency 12
Selective Iga Deficiency 20
Iga Deficiency Selective 54

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant
isolated cases

Miscellaneous:
most individuals are asymptomatic


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:11701
OMIM® 57 137100
MeSH 44 D017098
SNOMED-CT 67 29260007
ICD10 32 D80.2
MedGen 41 C2931161
UMLS 70 C0162538 C2931161 C4049006

Summaries for Immunoglobulin a Deficiency 1

OMIM® : 57 Immunoglobulin (Ig) A deficiency (IGAD) is characterized by decreased or absent levels of serum IgA in the presence of normal serum levels of IgG and IgM in a patient older than 4 years of age in whom other causes of hypogammaglobulinemia have been excluded. IgA in the dimeric form is the dominant immunoglobulin in luminal secretions, such as saliva, tears, bronchial secretions, nasal mucosal secretions, and mucous secretions of the small intestine. Individuals with selective IgA deficiency may be asymptomatic or have recurrent sinopulmonary and gastrointestinal infections, allergic disorders, and autoimmune disorders. The diagnosis of IgA deficiency depends on the measurement of monomeric IgA concentrations in serum; thus individuals with IgA deficiency may have IgA in mucosal systems, which may offer some protection (review by Yel, 2010). (137100) (Updated 05-Apr-2021)

MalaCards based summary : Immunoglobulin a Deficiency 1, also known as immunoglobulin a deficiency, is related to b cell deficiency and tetanus. An important gene associated with Immunoglobulin a Deficiency 1 is IGAD1 (Immunoglobulin A (IgA) Deficiency Susceptibility 1), and among its related pathways/superpathways are TRAF Pathway and NF-kappaB Signaling. The drugs Immunoglobulins and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include small intestine, bone marrow and bone, and related phenotypes are recurrent respiratory infections and malabsorption

Disease Ontology : 12 A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract.

GARD : 20 Selective IgA deficiency is the most common type of primary immunodeficiency syndrome. Individuals with this condition have a complete absence or severe deficiency of IgA, which is essential in the respiratory and gastrointestinal tracts and plays a role in developing mucosal immunity and protection against infection. While many people with selective IgA deficiency appear healthy, they are more prone to infections, allergies, diarrhea, and autoimmune diseases. The underlying cause of selective IgA deficiency is unknown. Familial occurrence has been reported, with some cases suggestive of autosomal dominant inheritance and others of autosomal recessive inheritance. At this time, there is no way to replace IgA in the body. Antibiotics may be used to treat infections or prevent new infections from occurring.

Wikipedia : 73 Selective immunoglobulin A (IgA) deficiency (SIgAD) is a genetic immunodeficiency, a type of... more...

Related Diseases for Immunoglobulin a Deficiency 1

Diseases related to Immunoglobulin a Deficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 315)
# Related Disease Score Top Affiliating Genes
1 b cell deficiency 31.1 TOR1A TNFRSF13B TGM2 RNU4ATAC CD40LG BTK
2 tetanus 30.3 LTA CD79A CD40LG
3 respiratory papillomatosis, juvenile recurrent, congenital 30.3 CD79A CD40LG
4 agammaglobulinemia 30.2 TNFRSF13B CD79A CD40LG BTK
5 marginal zone b-cell lymphoma 29.9 CD79A CD40LG BTK
6 lymphocytic colitis 29.9 TOR1A TGM2
7 giardiasis 29.9 TOR1A TGM2 CD79A
8 agammaglobulinemia, x-linked 29.9 TNFRSF13B CD79A CD40LG BTK
9 autoimmune disease 29.9 TNFRSF13B TGM2 LTA CD79A CD40LG
10 microscopic colitis 29.9 TOR1A TGM2 CD79A
11 immune deficiency disease 29.8 TNFRSF13B LTA CD79A CD40LG BTK
12 celiac disease 1 29.5 TOR1A TNFRSF25 TGM2 CLEC16A CD79A
13 common variable immunodeficiency 29.4 TNFRSF13B MSH5 CLEC16A CD79A CD40LG BTK
14 immunoglobulin alpha deficiency 28.5 TOR1A TNFRSF25 TNFRSF13B TGM2 MSH5 CD79A
15 immunoglobulin a deficiency 2 11.0
16 hemorrhagic fever-renal syndrome 10.3 CD79A CD40LG
17 c1q nephropathy 10.3 CD79A CD40LG
18 cryofibrinogenemia 10.3 CD79A CD40LG
19 immunoglobulin g deficiency 10.3 CD79A CD40LG
20 ocular toxoplasmosis 10.3 CD79A CD40LG
21 congenital syphilis 10.3 CD79A CD40LG
22 secondary syphilis 10.3 CD79A CD40LG
23 spondyloarthropathy 1 10.3
24 inflammatory spondylopathy 10.3
25 spondylitis 10.3
26 pustulosis palmaris et plantaris 10.3 CD79A CD40LG
27 calciphylaxis 10.3 CD79A CD40LG
28 sporotrichosis 10.3 CD79A CD40LG
29 immunodeficiency with hyper-igm, type 5 10.3 TNFRSF13B CD40LG
30 baylisascariasis 10.3 CD79A BTK
31 transient hypogammaglobulinemia of infancy 10.3 TNFRSF13B RNU4ATAC
32 parotitis 10.3
33 hypothyroidism 10.3
34 congenital toxoplasmosis 10.2 CD79A CD40LG
35 persistent generalized lymphadenopathy 10.2 CD79A CD40LG
36 colitis 10.2
37 lymphoplasmacytic lymphoma 10.2 CD79A CD40LG BTK
38 pneumocystosis 10.2 CD40LG BTK
39 combined oxidative phosphorylation deficiency 9 10.2 TNFRSF13B BTK
40 immunodeficiency with hyper-igm, type 2 10.2 TNFRSF13B CD40LG
41 cll/sll 10.2 CD79A BTK
42 cd40 ligand deficiency 10.2 TNFRSF13B CD40LG BTK
43 macroglobulinemia 10.2 TNFRSF13B CD40LG BTK
44 otitis media 10.1
45 ataxia-telangiectasia 10.1
46 myasthenia gravis 10.1
47 pleuropulmonary blastoma 10.1
48 allergic disease 10.1
49 telangiectasis 10.1
50 chronic granulomatous disease 10.1

Graphical network of the top 20 diseases related to Immunoglobulin a Deficiency 1:



Diseases related to Immunoglobulin a Deficiency 1

Symptoms & Phenotypes for Immunoglobulin a Deficiency 1

Human phenotypes related to Immunoglobulin a Deficiency 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 malabsorption 31 HP:0002024
3 autoimmunity 31 HP:0002960
4 recurrent infections 31 HP:0002719
5 decreased circulating iga level 31 HP:0002720
6 recurrent infection of the gastrointestinal tract 31 HP:0004798

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
respiratory infections, recurrent

Immunology:
allergic disorders
autoimmune disorders

Abdomen Gastrointestinal:
gastrointestinal infections, recurrent

Laboratory Abnormalities:
decreased serum iga

Clinical features from OMIM®:

137100 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Immunoglobulin a Deficiency 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 BTK CD40LG CD79A DNHD1 LTA MSH5
2 immune system MP:0005387 9.28 BTK CD40LG CD79A LTA MSH5 TGM2

Drugs & Therapeutics for Immunoglobulin a Deficiency 1

Drugs for Immunoglobulin a Deficiency 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Genetic Tests for Immunoglobulin a Deficiency 1

Genetic tests related to Immunoglobulin a Deficiency 1:

# Genetic test Affiliating Genes
1 Igad1 29

Anatomical Context for Immunoglobulin a Deficiency 1

MalaCards organs/tissues related to Immunoglobulin a Deficiency 1:

40
Small Intestine, Bone Marrow, Bone, Liver, B Cells, Lung, Heart

Publications for Immunoglobulin a Deficiency 1

Articles related to Immunoglobulin a Deficiency 1:

(show top 50) (show all 303)
# Title Authors PMID Year
1
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. 57 61
20694011 2010
2
Selective IgA deficiency. 57 54
20101521 2010
3
Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency. 61 57
1351062 1992
4
Different amino acids at position 57 of the HLA-DQ beta chain associated with susceptibility and resistance to IgA deficiency. 61 57
1976229 1990
5
Immunoglobulin A deficiency: genetic studies. 61 57
7089956 1982
6
Selective immunoglobulin A deficiency and chronic obstructive lung disease. A family study. 57 61
4545089 1974
7
Genetic aspects of selective immunoglobulin A deficiency. 61 57
4627938 1972
8
Role for Msh5 in the regulation of Ig class switch recombination. 57
17409188 2007
9
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. 57
16007087 2005
10
TACI is mutant in common variable immunodeficiency and IgA deficiency. 57
16007086 2005
11
Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families. 57
10754342 2000
12
Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition. 57
10090895 1999
13
X-linked agammaglobulinemia and other immunoglobulin deficiencies. 57
8070814 1994
14
Incidental correction of severe IgA deficiency by displacement bone marrow transplantation. 57
1873598 1991
15
Familial selective IgA deficiency with circulating anti-IgA antibodies: a distinct group of patients? 57
1983972 1991
16
Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes. 57
2573059 1989
17
Evidence for linkage of IgA deficiency with the major histocompatibility complex. 57
3361955 1988
18
Transfer of IgA deficiency to a bone-marrow-grafted patient with aplastic anaemia. 57
2858666 1985
19
Pernicious anemia, 18q deletion syndrome, and IgA deficiency. 57
7109158 1982
20
IgG subclasses in selective IgA deficiency: importance of IgG2-IgA deficiency. 57
7231479 1981
21
Clinical and immunologic features of selective IgA deficiency. 57
807270 1975
22
Familial occurrence of isolated IgA deficiency associated with antibodies to IgA. Evidence against a structural gene defect. 57
4852016 1974
23
Familial selective IgA deficiency. 57
4621770 1972
24
Isolated absence of IgA with autosomal dominant inheritance. 57
4104460 1971
25
Selective IgA deficiency: presentation of 30 cases and a review of the literature. 57
4938275 1971
26
Familial hypogammaglobulinemia-A. 57
4184867 1969
27
Selective gamma-A-globulin deficiency, with dominant autosomal inheritance in a Swiss family. 57
4177045 1968
28
IgA deficiency: family studies. 57
4175121 1968
29
Selective absence of IgA: a family study. 57
4174907 1968
30
Cross-reactive antibodies induced by xenogeneic IgA can cause selective IgA deficiency. 61 54
19824874 2010
31
Selective immunoglobulin A deficiency in Iranian blood donors: prevalence, laboratory and clinical findings. 61 54
18780950 2008
32
High-resolution DNA typing in immunoglobulin A deficiency confirms a positive association with DRB1*0301, DQB1*02 haplotypes. 54 61
9389325 1997
33
Severe Fatigue Is Common Among Pediatric Patients with Primary Immunodeficiency and Is Not Related to Disease Activity. 61
33728554 2021
34
Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients. 61
32116070 2021
35
The Prevalence of Selective and Partial Immunoglobulin A Deficiency in Patients with Autoimmune Polyendocrinopathy. 61
33432864 2021
36
A novel mutation of indoleamine 2,3-dioxygenase 1 causes a rapid proteasomal degradation and compromises protein function. 61
32605792 2020
37
Antithyroid Drug-Induced Lupus Erythematosus and Immunoglobulin A Deficiency. 61
33349625 2020
38
The synovium under arthroscopy in a juvenile idiopathic arthritis patient with selective immunoglobulin A deficiency. 61
33188697 2020
39
The epidemiology and clinical feature of selective immunoglobulin a deficiency of Zhejiang Province in China. 61
32715518 2020
40
Nodular regenerative hyperplasia and portal hypertension are the characteristics of liver abnormalities in patients with selective immunoglobulin A deficiency. 61
32146091 2020
41
Selective Immunoglobulin A Deficiency, Helicobacter pylori Infection, and Strongyloidiasis in a Patient with Adenocarcinoma of the Stomach. 61
33250749 2020
42
GLILD Revisited: Pulmonary Pathology of Common Variable and Selective IgA Immunodeficiency. 61
32235152 2020
43
Primary Humoral Immune Deficiencies: Overlooked Mimickers of Chronic Immune-Mediated Gastrointestinal Diseases in Adults. 61
32718006 2020
44
Serum immunoglobulin a deficiency and autoimmune comorbidities: a crossectional study in 281 patients with systemic lupus erythematosus. 61
32696881 2020
45
Selective immunoglobulin A deficiency (SIgAD) primarily leads to recurrent infections and autoimmune diseases: A retrospective study of Chinese patients in the past 40 years. 61
32181282 2020
46
Vaccine-Strain Herpes Zoster Ophthalmicus in a 14-month-old Boy Prompting an Immunodeficiency Workup: Case Report and Review of Vaccine-strain Herpes Zoster. 61
31929435 2020
47
The Epidemiology and Clinical Manifestations of Autoimmunity in Selective IgA Deficiency. 61
31267472 2020
48
Study of selective immunoglobulin A deficiency among Egyptian patients with food allergy. 61
33456329 2020
49
Evaluation of pulmonary findings in patients with humoral immunodeficiency. 61
32684763 2020
50
Respiratory and allergic disorders in children with severe and partial immunoglobulin A immunodeficiency. 61
31520490 2019

Variations for Immunoglobulin a Deficiency 1

Expression for Immunoglobulin a Deficiency 1

Search GEO for disease gene expression data for Immunoglobulin a Deficiency 1.

Pathways for Immunoglobulin a Deficiency 1

Pathways related to Immunoglobulin a Deficiency 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 TNFRSF25 TNFRSF13B LTA CD40LG
2 12.18 TNFRSF25 CD79A CD40LG BTK
3 11.51 LTA CD40LG BTK
4
Show member pathways
11.3 TNFRSF25 TNFRSF13B CD40LG
5
Show member pathways
11.17 TNFRSF25 TNFRSF13B LTA CD40LG
6 11.15 TNFRSF13B LTA CD40LG
7 10.5 TNFRSF13B CD79A CD40LG BTK

GO Terms for Immunoglobulin a Deficiency 1

Biological processes related to Immunoglobulin a Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 B cell activation GO:0042113 9.26 CD79A BTK
2 B cell proliferation GO:0042100 9.16 CD79A CD40LG
3 negative regulation of B cell proliferation GO:0030889 8.96 TNFRSF13B BTK
4 tumor necrosis factor-mediated signaling pathway GO:0033209 8.92 TNFRSF25 TNFRSF13B LTA CD40LG

Molecular functions related to Immunoglobulin a Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 8.62 LTA CD40LG

Sources for Immunoglobulin a Deficiency 1

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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