ImmunoDeficiency Resource (IDR)

Patients have partial pigmentary dilution or albinism with silvery gray hair, frequent infections, cellular immune deficiency, neurologic abnormalities and fatal outcome caused by an uncontrolled T lymphocyte and macrophage activation syndrome. GS2 is similar to Chediak-Higashi syndrome but is distinguished from it by the absence of giant granules. Silvery gray sheen to their hair is an expression of albinism. The patients's hair is generally lighter than their unaffected family members. Sometimes patients present a subtle pigmentary dilution of the skin and iris. Immunological and hematological manifestations include anemia, neutropenia and lack of natural killer cell function, with the development of an accelerated phase of the disease with fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia and generalized lymphohistiocytic infiltrates of various organs including the central nervous system. Onset of accelerated phase is associated with a virus or bacterial infection. Neurological manifestations include hyperreflexia, seizures, signs of intracranial hypertension (vomiting, altered consciousness), regression of developmental milestones, hypertonia, nystagmus and ataxia. Psychomotor development is normal at onset and regression of the central nervous system signs can be observed during remission. Cranial computer tomograph (CT) and magnetic resonance imaging (MRI) reveal cerebellar hypodense areas, ventricular, or hyperdense areas compatible with inflammatory changes, white matter changes and periventricular calcifications.