Abstract
We report four members of a highly consanguineous family with silver-grey pigmentation of hair, two of whom had skin histology compatible with Griscelli disease. Unlike previously reported patients, they did not suffer from recurrent infections. In addition, there was a spectrum of neurological involvement varying from mild cognitive delay with a convulsive disorder in one patient, to a fatal degenerative course in three others. One patient developed a prolonged febrile illness with histological evidence of florid lymphoid hyperplasia.
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Abbreviations
- EBV:
-
Epstein-Barr virus
References
Bergstrasser PR, Juarez DV (1984) Detection by immunochemical techniques of cell surface markers on epidermal Langerhans cells. Methods Enzymol 108:683–691
Boxer LA, Wanatabe AM, Rister M, Besch HR, Allen J, Baehner RL (1976) Correction of leukocyte functions in Chediak-Higashi syndrome by ascorbate. N Engl J Med 295: 1041–1045
Conley ME, Henle W (1987) Acyclovir in accelerated phase of Chediak-Higashi syndrome. Lancet I:212
Devendra DP, Yunis EJ (1984) Cellular typing: mixed lymphocyte response and cell mediated lymphocytolysis. In: Rose NR, Freidman H, Fahey JL (eds) Manual of clinical immunology. Am Soc Microbiol:847–857
Elejalde BR, Holdguin J, Valencia A, Gilbert EF, Molina J, Martin G, Arango LA (1979) Mutations affecting pigmentation in Man: 1. Neuroectodermal melanolysosomal disease. Am J Med Genet 3:65–80
Fabian I, Kletter Y, Bleiberg I, Gadish M, Naparsteck E, Slavin S (1991) Effect of exogenous recombinant human granulocyte and granulocyte/macrophage colony stimulating factor on neutrophil function following allogenic bone-marrow transplantation. Exp Hematol 19:868–873
Fabian I, Shapira E, Gadish M, Kletter Y, Nagler A, Flidel O, Slavin S (1991) Effect of human interleukin-3, macrophage and granulocyte/macrophage colony stimulating factor on monocyte function following autologous bone-marrow transplantation. Leuk Res
Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Pruneiras N (1978) A syndrome associating partial albinism and immunodeficiency. Am J Med 65:698–702
Griscelli C, Geha R, Durandy A, LeDeist F, Guy-Grand D, Fischer A, Nezelof C, Cesarini JP (1986) A syndrome of partial albinism and immunodeficiency distinct from the Chediak-Higashi syndrome. Progress in immunodeficiency research and therapy II. Elsevier, Amsterdam
Haraldsson A, Weemaes CMR, Bakkeren JAJM, Happle R (1991) Griscelli disease with cerebral involvement. Eur J Pediatr 150:419–422
Ho M, Miller G, Atchison RW, Breining MK, Drummer JS, Andiman WS, Starzl TE, Eastman BP, Hardest RL, Bahnson HT, Hakala TR, Rosenthal T (1985) Epstein-Barr infection and DNA hybridisation studies in post transplantation lymphoma and lymphoproliferative lesions: the role of primary infection. J Infect Dis 152:876–886
Matzner Y (1987) Neutrophil function studies in clinical medicine. Transfusion Med Rev 1:171–181
Matzner Y, Konijn AM, Shlomai Z, Ben-Bassat H (1985) Differential effect of isolated placental isoferritins on in vivo T-lymphocyte function. Br J Haematol 59:443–448
Pick E, Mizel D (1981) Rapid microassays for the measurement of superoxide and hydrogen production of macrophages in culture using an automatic enzyme immunoassay reader. J Immunol Methods 46: 211–226
Rayner A, Grimm EA, Lotze MT, Chu EW, Rosenberg SA (1985) Lymphokyne-Activated Killer (LAK) cells. Analysis of factors relevant to the immunology of human cancer. Cancer 55:1327–1333
Rechavi G, Ben-Bassat I, Berkovicz U, Martinowitz F, Brok-Simoni F, Neumann Y, Vansover A, Gotleib-Stematsky T, Ramot B (1987) Molecular analysis of Burkitt's leukemia in two hemophilic brothers with AIDS. Blood 57:1713–1717
Weisbart RH, Golde DW, Clark SC, Wong GG, Gasson JC (1985) Human granulocyte-macrophage colony stimulating factor is a neutrophil activator. Nature 314:361–363
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Hurvitz, H., Gillis, R., Klaus, S. et al. A kindred with Griscelli disease: Spectrum of neurological involvement. Eur J Pediatr 152, 402–405 (1993). https://doi.org/10.1007/BF01955897
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DOI: https://doi.org/10.1007/BF01955897