Details of Disease

General Information of Disease (ID: DISYJ29X)

• Disease Name: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
• Synonyms: immunodeficiency 32A; IMD32A; immunodeficiency 32A, Mycobacteriosis, autosomal dominant; CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant; IRF8 deficiency, autosomal dominant; MSMD due to partial IRF8 deficiency; MSMD due to partial interferon regulatory factor 8 deficiency; autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8; IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency; immunodeficiency type 32A; Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
• Definition: A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG).
• Disease Hierarchy:
  DIS33M7J: Inherited susceptibility to mycobacterial diseases
  DISYJ29X: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013957
  UMLS CUI: C3808589
  OMIM ID: 614893
  MedGen ID: 814919
  Orphanet ID: 319600

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IRF8	TTHUBNK	Strong	Autosomal dominant	[1]
IRF8	TTHUBNK	Strong	Genetic Variation	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IRF8	OT8YSNI4	Strong	Autosomal dominant	[1]

References

• [1] IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med. 2011 Jul 14;365(2):127-38. doi: 10.1056/NEJMoa1100066. Epub 2011 Apr 27.