Details of Disease

General Information of Disease (ID: DISZWFUU)

• Disease Name: Immunodeficiency 33
• Synonyms: NEMO deficiency syndrome; atypical Mycobacteriosis, familial, X-linked 1; NF-kappa B essential modulator deficiency; familial X-linked 1 atypical mycobacteriosis; immunodeficiency without anhidrotic ectodermal dysplasia; IKBKG X-linked mendelian susceptibility to mycobacterial diseases; X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency; X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG; IPD2; invasive pneumococcal disease, recurrent isolated, 2; immunodeficiency 33, X-linked recessive; X-linked MSMD due to IKBKG deficiency; immunodeficiency type 33; immunodeficiency, isolated; X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency; immunodeficiency, pure; IMD33; invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG; IKBKG invasive pneumococcal disease, recurrent isolated; immunodeficiency 33, Mycobacteriosis, X-linked; X-linked MSMD due to NEMO deficiency; invasive pneumococcal disease, recurrent isolated, type 2
• Definition: Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.
• Disease Hierarchy:
  DISBPHHV: IKBKG-related immunodeficiency with or without ectodermal dysplasia
  DISNGCMN: Inborn error of immunity
  DISZWFUU: Immunodeficiency 33
• Disease Identifiers:
  MONDO ID: MONDO_0010386
  UMLS CUI: C1970879
  OMIM ID: 300636
  MedGen ID: 370376

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
IKBKG	OTNWJWSD	Definitive	X-linked recessive	[1]

References

• [1] X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med. 2006 Jul 10;203(7):1745-59. doi: 10.1084/jem.20060085. Epub 2006 Jul 3.