Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis

References (8)

1. Akbayram S, Akgun C, Basaranoglu M, Kaya A, Balta G, Ustyol L, Yesilmen O, Deger I, Oner AF. A case of ChediakHigashi syndrome presented with hemophagocytic lymphohistiocytosis. International Journal of Hematology and Oncology 2011;21:196-199
2. Spritz RA. Genetic defects in Chediak-Higashi syndrome and the beige mouse. J Clin Immunol 1998;18:97-105
3. Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr 2007;166:95-109
4. Pujani M, Agarwal K, Bansal S, Ahmad I, Puri V, Verma D, Pujani M. Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face. Turk Patoloji Derg 2011;27:246-248
5. Karalı Z, Kılıç SŞ. Chediak-Higashi sendromu. Güncel Pediatri Dergisi 2007;5:99-104 (article in Turkish)
6. Kaya Z, Ehl S, Albayrak M, Maul-Pavicic A, Schwarz K, Kocak U, Ergun MA, Gursel T. A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak-Higashi syndrome. Pediatr Blood Cancer 2011;56:1136-1139
7. Westbroek W, Adams D, Huizing M, Koshoffer A, Dorward H, Tinloy B, Parkes J, Helip-Wooley A, Kleta R, Tsilou E, Duvernay P, Digre KB, Creel DJ, White JG, Boissy RE, Gahl WA. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol 2007;127:2674-2677
8. Haddad E, Deist FL, Blanche S, Benkerrou M, Rohrlich P, Vilmer E, Griscelli C, Fischer A. Treatment of Chediak-Higashi syndrome by allogeneic bone marrow transplantation: report of 10 cases. Blood 1995;85:3328-3333.