Details of Disease

General Information of Disease (ID: DISE8W83)

Disease Name Severe combined immunodeficiency due to IKK2 deficiency
Synonyms immunodeficiency 15; IMD15; immunodeficiency 15B; SCID due to IKK2 deficiency; immunodeficiency type 15
Definition
Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.
Disease Hierarchy
DISYM8XY: T+ B+ severe combined immunodeficiency
DISE8W83: Severe combined immunodeficiency due to IKK2 deficiency
Disease Identifiers
MONDO ID
MONDO_0014267
UMLS CUI
C4747743
OMIM ID
615592
MedGen ID
1648569
Orphanet ID
397787

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
IKBKB TTJ3E9X Strong Biomarker [1]
IKBKB TTJ3E9X Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IKBKB OT9RDS3H Definitive Autosomal recessive [2]
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References

1 Immunodeficiency associated with a nonsense mutation of IKBKB.J Clin Immunol. 2014 Nov;34(8):916-21. doi: 10.1007/s10875-014-0097-1. Epub 2014 Sep 14.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.