- A dictionary of medical eponyms

Griscelli's syndrome

Related people

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.

Bibliography

  • 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.

What is an eponym?

An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus any word related to medicine, whose name is derived from a person.

What is Whonamedit?

Whonamedit.com is a biographical dictionary of medical eponyms. It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person.

Disclaimer:

Whonamedit? does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.