A One and half year-old female child born out of 2consanguineous marriage came with multiple hypopigmented patches over the face, trunk lower limbs. There was history recurrent upper respiratory tract infections. On examination she had silvery grey hair, mild hepatomegaly. Ophthalmological revealed oculocutaneous albinism. Skin biopsy showed coarse clumps melanin pigment in epidermis. Hair moun...

Transplantation of normal bone marrow to mice with the Chediak-Higashi syndrome (CHS) resulted in normal granulopoiesis and a reversal of their increased susceptibility to challenge with intravenous Candida albicans. These findings suggest that (1) the leukocyte defect in CHS can be reversed by marrow transplantation and (2) the mechanism for increased susceptibility to infection in these anima...

Two human diseases of platelet storage pool deficiency (SPD). Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. are recessively inherited disorders characterized by hypopigmentation. prolonged bleeding. and normal platelet counts accompanied by a reduction in dense granule number. We have recently described seven independent recessive mutations in the mouse regulated by separate genes whi...

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous...

Pure red cell agenesis in adults was first described by Kaznelson (1922). Since then the condition has been seen with and without coincident thymic tumour, and by March, 1958, 14 cases of the tumour-anaemia syndrome had been reported (Davidsohn, 1941; Humphreys and Southworth, 1945; Chediak, Fuste, and Rosales, 1953; Ross, Finch, Street, and Strieder, 1954; Chalmers and Boheimer, 1954; Bakker, ...