IMD15A
MCID: IMM196
MIFTS: 19

Immunodeficiency 15a (IMD15A)

Categories: Genetic diseases, Immune diseases, Respiratory diseases

Aliases & Classifications for Immunodeficiency 15a

MalaCards integrated aliases for Immunodeficiency 15a:

Name: Immunodeficiency 15a 57 12 73 29 6
Imd15a 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
immunodeficiency 15a:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111960
OMIM® 57 618204
OMIM Phenotypic Series 57 PS300755
MeSH 44 D016511
UMLS 71 C4748694

Summaries for Immunodeficiency 15a

OMIM® : 57 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) (Updated 05-Mar-2021)

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 phenotypes are sinusitis and otitis media

Disease Ontology : 12 A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has material basis in heterozygous missense mutation in IKBKB on chromosome 8p11.21.

UniProtKB/Swiss-Prot : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 sinusitis 31 HP:0000246
2 otitis media 31 HP:0000388
3 respiratory tract infection 31 HP:0011947
4 recurrent fungal infections 31 HP:0002841

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Immunodeficiency 15a

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 15a

Genetic Tests for Immunodeficiency 15a

Genetic tests related to Immunodeficiency 15a:

# Genetic test Affiliating Genes
1 Immunodeficiency 15a 29 IKBKB

Anatomical Context for Immunodeficiency 15a

MalaCards organs/tissues related to Immunodeficiency 15a:

40
T Cells, B Cells

Publications for Immunodeficiency 15a

Articles related to Immunodeficiency 15a:

# Title Authors PMID Year
1
Gain-of-function IKBKB mutation causes human combined immune deficiency. 6 57
30337470 2018
2
Genomic characterization of primary central nervous system lymphoma. 57
26757737 2016

Variations for Immunodeficiency 15a

ClinVar genetic disease variations for Immunodeficiency 15a:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IKBKB NM_001556.3(IKBKB):c.607G>A (p.Val203Ile) SNV Pathogenic 590941 rs1563340753 8:42166458-42166458 8:42308940-42308940

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

73
# Symbol AA change Variation ID SNP ID
1 IKBKB p.Val203Ile VAR_081275

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