Details of Disease

General Information of Disease (ID: DISKKRBM)

Disease Name Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Synonyms
IMD29; IL12B deficiency; immunodeficiency 29; immunodeficiency type 29; MSMD due to complete IL12B deficiency; autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B; MSMD due to complete interleukin 12B deficiency; immunodeficiency 29, mycobacteriosis; IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
Definition Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene.
Disease Hierarchy
DIS33M7J: Inherited susceptibility to mycobacterial diseases
DISKKRBM: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Disease Identifiers
MONDO ID
MONDO_0013954
UMLS CUI
C4013948
OMIM ID
614890
MedGen ID
862385
Orphanet ID
319558

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
IL12B TTGW72V Strong Biomarker [1]
IL12B TTGW72V 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
IL12B OT0JF8A3 Definitive Autosomal recessive [2]
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References

1 A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.Immunogenetics. 2014 Jan;66(1):67-71. doi: 10.1007/s00251-013-0739-0. Epub 2013 Oct 15.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.