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Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Orpha number ORPHA75391
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • D84.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This primary immunodeficiency syndrome 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.


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