PARTIAL ALBINISM WITH IMMUNODEFICIENCY (GRISCELLI SYNDROME)

Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular i mmunodeficiency, To define the phenotype, therapy, and outcome, we ret rospectively analyzed seven consecutive patients. Primary abnormalitie s included a silvery-grayish sheen to the hair, large pigment agglomer ations in hair shafts, and an abundance of mature melanosomes in melan ocytes, with reduced pigmentation of adjacent keratinocytes. Clinical onset occurred between the ages of 4 months and 4 years and was charac terized by accelerated phases (lymphohistiocytic infiltration of multi ple organs, including the brain and the meninges), triggered by viral and bacterial infections. Characteristic laboratory features included pancytopenia, hypofibrinogenemia, hypertriglyceridemia, and hypoprotei nemia. Consistent immunologic abnormalities were characterized by abse nt delayed-type cutaneous hypersensitivity and impaired natural killer cell function. Some patients had secondary hypogammaglobulinemia, imp aired major histocompatibility complex-mediated cytotoxic effects, a d ecreased capacity of lymphocytes to trigger a mixed lymphocyte reactio n, or various functional granulocytic abnormalities. The disease seems to be invariably lethal without bone marrow transplantation; the mean age at the time of death was 5 years, Bone marrow transplantation has been performed in three cases; two patients died in the immediate pos ttransplantation period of infectious complications, but one patient i s cured after a follow-up of 5 years. We conclude that partial albinis m with immunodeficiency (Griscelli syndrome) can be differentiated fro m Chediak-Higashi syndrome by pathognomonic histologic features, One o f the underlying immunologic defects may be a defective function of na tural killer cells, predisposing the patient to virus-associated hemop hagocytic syndrome or accelerated phases. The prognosis is very poor u nless early bone marrow transplantation is carried out,