immunology allergic disorders
Chédiak Higashi Syndrome
Diagnosis of Chédiak Higashi Syndrome
Genetic testing Neutropenia, decreased natural killer–cell cytotoxicity, and hypergammaglobulinemia are common. A peripheral blood smear is examined for giant granules in neutrophils and other cells; a bone marrow smear is examined for giant inclusion bodies in leukocyte precursor cells. The diagnosis of Chédiak-Higashi syndrome can be confirmed with genetic testing forLYSTmutations. Because this disorder is extremely rare, there is no need to screen relatives unless clinical suspicion is high. Even if a sibling is a carrier, the likelihood of them encountering another carrier and having children is extremely low. 