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familial histiocytoses

Tuesday 9 February 2010

Familial forms of histiocytosis are rare.

FHLH can be caused by mutations in the perforin genes (PRF1 and PRF2), MUNC 13-4 and syntaxin-11.

Faisalabad histiocytosis (MIM.602782) was first described as a novel autosomal recessive form of histiocytosis in a highly consanguineous family originating from Pakistan.