IMD15A
MCID: IMM196
MIFTS: 15

Immunodeficiency 15a (IMD15A)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 15a

MalaCards integrated aliases for Immunodeficiency 15a:

Name: Immunodeficiency 15a 58 76 6
Imd15a 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
based on a report of 2 families (last curated november 2018)


Classifications:



External Ids:

OMIM 58 618204
MeSH 45 D016511
MedGen 43 CN257488

Summaries for Immunodeficiency 15a

OMIM : 58 Immunodeficiency 15A is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections and lymphopenia, combined with immune activation of both CD4+ and CD8+ T cells. One patient presented with inflammatory disease and possible ectodermal defect. (618204)

MalaCards based summary : Immunodeficiency 15a, is also known as imd15a. An important gene associated with Immunodeficiency 15a is IKBKB (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta). Affiliated tissues include t cells and b cells, and related phenotype is recurrent fungal infections.

UniProtKB/Swiss-Prot : 76 Immunodeficiency 15A: An autosomal dominant primary immunodeficiency disorder characterized by lymphopenia, inflammation and immune activation of both CD4+ and CD8+ T cells. Patients suffer from recurrent respiratory tract infections, oral candidiasis, and otitis media.

Related Diseases for Immunodeficiency 15a

Symptoms & Phenotypes for Immunodeficiency 15a

Human phenotypes related to Immunodeficiency 15a:

33
# Description HPO Frequency HPO Source Accession
1 recurrent fungal infections 33 HP:0002841

Symptoms via clinical synopsis from OMIM:

58
Respiratory Nasopharynx:
sinusitis

Immunology:
recurrent fungal infections
decreased memory b cells
recurrent infections, non-lethal
hypogammaglobulinemia: decreased cd4+ and cd8+ t cells
decreased number of b cells
more
Head And Neck Mouth:
candidiasis

Head And Neck Ears:
otitis media

Respiratory:
respiratory infections

Clinical features from OMIM:

618204

Drugs & Therapeutics for Immunodeficiency 15a

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 15a

Genetic Tests for Immunodeficiency 15a

Anatomical Context for Immunodeficiency 15a

MalaCards organs/tissues related to Immunodeficiency 15a:

42
T Cells, B Cells

Publications for Immunodeficiency 15a

Articles related to Immunodeficiency 15a:

# Title Authors Year
1
Gain-of-function IKBKB mutation causes human combined immune deficiency. ( 30337470 )
2018

Variations for Immunodeficiency 15a

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 15a:

76
# Symbol AA change Variation ID SNP ID
1 IKBKB p.Val203Ile VAR_081275

ClinVar genetic disease variations for Immunodeficiency 15a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IKBKB NM_001556.3(IKBKB): c.607G> A (p.Val203Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 42308940: 42308940
2 IKBKB NM_001556.3(IKBKB): c.607G> A (p.Val203Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 42166458: 42166458

Expression for Immunodeficiency 15a

Search GEO for disease gene expression data for Immunodeficiency 15a.

Pathways for Immunodeficiency 15a

GO Terms for Immunodeficiency 15a

Sources for Immunodeficiency 15a

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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