A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
Synonyms: Chediak-Steinbrinck-Higashi Syndrome, Chediak Higashi Syndrome, Chediak-Higashi Syndrome, Chediak Steinbrinck Higashi Syndrome, Chediak-Steinbrinck-Higashi Syndromes, Oculocutaneous Albinism with Leukocyte Defect
Instance information
comment
71
identifier
D002609