Immunoerythromyeloid Hypoplasia

Linsk et al. (1975) described a sibship, offspring of Sicilian first cousins, in which 4 of 6 sibs in early adulthood developed a clinical disorder in the hematopoietic and immunoglobulin-producing systems. A female sib died at age 21 years with myeloid aplasia. A male sib presented at age 17 with erythroid and plasma cell aplasia with hypogammaglobulinemia. Two other female sibs, aged 21 and 35, had a lymphoproliferative disorder associated with hypogammaglobulinemia. Two affected sibs had absence of leukocyte alkaline phosphatase. Electron microscopy of the peripheral leukocytes from 2 of the affected sibs and 1 of the asymptomatic sibs showed curious intranuclear and intracytoplasmic linear 'crystalloid' structures.