Orphanet: Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency

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Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Disease definition

A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.

ORPHA:75391

Classification level: Disorder

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: -

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Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

ORPHA:75391

A summary on this disease is available in Deutsch (2006) Español (2020) Français (2020) Nederlands (2020)

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