FaCD Online Syndrome Fact Sheet

Last updated: 26 May 2009

Name: Chediak-Higashi syndrome

Mode of Inheritance: AR

OMIM number: 214500  


LYST/CHS, mapped to 1q42.1-q42.2

Tumor features

non-Hodgkin lymphoma

Tumor features (possible)

sclerosing stromal tumor of the ovary

Non-tumor features

oculocutaneous albinism


This disorder (CHS) is characterized by partial oculocutaneous albinism, an increased susceptibility to bacterial infections due to impaired natural killer cell activity, the presence of massive lysosomal inclusions in all white blood cells and of giant melanosomes in melanocytes. The diagnostic hallmark of CHS is the occurrence of giant granules in the granulocytes and their precursors.

The majority of patients develop a lymphoproliferative disorder during the accelerated phase of the disease, which was demonstrated by Argyle et al.[1] to be a NHL T-cell lymphoma. The patients generally die in early childhood due to recurrent infections, although a late-onset type has been reported. An sclerosing stromal tumor of the ovary, a benign tumor, has been detected in a girl with CHS[2]. The CHS gene has been identified[3].


Chediak-Higashi syndrome association 18 1 08


[1] Argyle JC, Kjeldsberg CR, Marty J, Shigeoka AO, Hill HR. T-cell lymphoma and the Chediak-Higashi syndrome. Blood 1982; 60(3):672-676.
[2] Inoue R, Kondo N, Motoyoshi F, Hori Y, Orii T. Chediak-Higashi syndrome: report of a case with an ovarian tumor [letter]. Clin Genet 1991; 39(4):316-318.
[3] Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ, Jr., Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome [see comments]. Nat Genet 1996; 14(3):307-311.