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Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
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
- Primary immunodeficiency due to MCM4 deficiency
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Childhood
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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- Research project(s) (50)
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Newborn screening