Omenn's disease.

Dyke, M P; Marlow, N; Berry, P J · Arch Dis Child · 1991

case_report · Level V

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Abstract

The importance of accurate pathological diagnosis is emphasised in the case of a newborn infant who presented with alopecia, a generalised erythrodermatous skin eruption, and hepatosplenomegaly. She subsequently developed generalised lymphadenopathy and recurrent septicaemia and died aged 2 months. The histological findings of widespread lymphocytic, histiocytic, and eosinophilic tissue infiltration, associated with thymic hypoplasia, were consistent with autosomal recessive Omenn's disease.

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