Details of Disease

General Information of Disease (ID: DISUJN77)

• Disease Name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
• Synonyms: IL-12R1 deficiency; immunodeficiency 30; IL12RB1 deficiency; Mendelian susceptibility to mycobacterial infections due to IL12 deficiency; IMD30; IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency; immunodeficiency type 30; MSMD due to complete interleukin 12 receptor beta 1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1; MSMD due to complete IL12RB1 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 IL12RB1 gene.
• Disease Hierarchy:
  DIS33M7J: Inherited susceptibility to mycobacterial diseases
  DISUJN77: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013955
  UMLS CUI: C4013949
  OMIM ID: 614891
  MedGen ID: 862386
  Orphanet ID: 319552

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL12RB1	OTM1IJO2	Strong	Autosomal recessive	[1]

References

• [1] Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med. 2003 Feb 17;197(4):527-35. doi: 10.1084/jem.20021769.