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Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Disease definition

The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised 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 localised to within a 12-Mb region on chromosome 8p11.23-q11.21.

ORPHA:75391

  • Synonym(s):
    • Primary immunodeficiency due to MCM4 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: D84.8
  • OMIM: 609981
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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