Details of Disease

General Information of Disease (ID: DIS7ZIZF)

• Disease Name: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
• Synonyms: IMD54; immunodeficiency 54; natural Killer cell deficiency, familial isolated; NKGCD; natural KILLER cell and glucocorticoid deficiency with DNA repair defect; primary immunodeficiency due to MCM4 deficiency; mini-chromosome maintenance 4
• Definition: The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21.
• Disease Hierarchy:
  DIS093I0: Immunodeficiency
  DIS7ZIZF: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
• Disease Identifiers:
  MONDO ID: MONDO_0012383
  MESH ID: C566492
  UMLS CUI: C1864947
  OMIM ID: 609981
  MedGen ID: 351256
  Orphanet ID: 75391

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
MCM4	OT19PNNG	Strong	Autosomal recessive	[1]

References

• [1] A viable allele of Mcm4 causes chromosome instability and mammary adenocarcinomas in mice. Nat Genet. 2007 Jan;39(1):93-8. doi: 10.1038/ng1936. Epub 2006 Dec 3.