Chediak-Higashi syndrome
Chédiak-Higashi syndrome What every physician needs to know: Chédiak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by severe immunodeficiency with frequent bacterial infections, bleeding tendency, decreased pigmentation of hair and eyes (partial albinism), photophobia, nystagmus, progressive neurologic dysfunction, and heightened risk for hemophagocytic histiocytic (HLH) syndrome. Failure of normal granule morphogenesis, resulting in…
