Abstract
We have observed two separate families with Nager's acrofacial dysostosis. Affected individuals in both families displayed evidence of combined immune deficiency of moderate severity. Both B and T cell functions were assayed and showed diminished activities. The patients had chronic mucocutaneous candidiasis and history of repeated bacterial infections. Adenosine deaminase, phosphoribosyl pryophosphorylase and nucleoside phosphorylase enzymatic activities were within normal levels.
The patients came from highly endogenous ethnic groups with parental consanguinity demonstrated in both sibships.
Together with the freedom of parents from similar manifestations and close similarity in affliction this suggests autosomal recessive inheritance.
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Shokeir, M. COMBINED IMMUNE DEFICIENCY IN NAGER'S SYNDROME. Pediatr Res 11, 529 (1977). https://doi.org/10.1203/00006450-197704000-00956
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DOI: https://doi.org/10.1203/00006450-197704000-00956
