An albinoidism marked by hypomelanosis, frequent pyogenic infection, hepatosplenomegaly, neutro- and thrombopenia, and immunodeficiency. The associated immunodeficiency often involves impaired natural killer cell activity, absent delayed-type hypersensitivity, and a poor cell proliferation response to antigenic challenge. Inheritance is autosomal recessive.
This is a different entity from Chediak-Higashi syndrome, which also presents with partial albinism.
Partial albinism with immunodeficiency was described in 1978 by Griscelli and Michel Prunieras in two patients and Antonio G. Siccardi et al in one patient.
- C. Griscelli and M. Prunieras:
Pigment dilution and immunodeficiency: a new syndrome.
International Journal of Dermatology, Philadelphia, December 1978, 17 (10): 788-791
- C. Griscelli, A. Durandy, D. Guy-Grand, F. Daguillard, C. Herzog, M. Prunieras:
A syndrome associating partial albinism and immunodeficiency.
The American Journal of Medicine, New York, 1978, 65: 691-702.
- A.G. Siccardi, E. Bianchi, A. Calligari, A. Clivio, A. Fortunato, U. Magrini, F. Sacchi:
A new familial defect in neutrophil bactericidal activity.
Helvetica paediatrica acta, Basel, 1978, 33: 401-412.