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. 1984 Sep;142(4):248-52.
doi: 10.1007/BF00540245.

Genetic analysis of familial erythrophagocytic lymphohistiocytosis

A Gencik, E Signer, H Müller

Genetic analysis of familial erythrophagocytic lymphohistiocytosis

A Gencik et al. Eur J Pediatr. 1984 Sep.

Abstract

A family with two patients suffering from familial erythrophagocytic lymphohistiocytosis (FEL) is described. Reports on FEL found in the literature were collected and the family trees reconstructed. Genetic analysis of this material indicated that FEL is an autosomal recessive hereditary disease. This conclusion is supported by the following evidence: considerably increased consanguinity rate; complete concordance in monozygotic twins; more frequent occurrence in inbred populations and in cousins; limitation of cases to one generation, and results of segregation analysis.

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