Chédiak-Higashi syndrom


Engelsk navn: Chédiak-Higashi syndrome
Engelske synonym: Chédiak-Higashi disease,Chédiak-Higashi-Steinbrink syndrome


Definisjon

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

Fra Orphanet

ORPHA: 167
Klassifiseringsnivå: Disorder
ICD-10: E70.3

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