CHS is a disease causing impaired bacteriolysis due to failure of phagolysosome formation. As a result of disordered intracellular trafficking there is impaired lysosome degranulation with phagosomes, so phagocytosed bacteria are not destroyed by the lysosome's enzymes. In addition, secretion of lytic secretory granules by cytotoxic T cells is affected. The disease is characterised by large lysosome vesicles in phagocytes (neutrophils), which thus have poor bactericidal function, leading to susceptibility to infections, abnormalities in nuclear structure of leukocytes, anemia, and hepatomegaly. Döhle bodies (remnants of endoplasmic reticulum) in the neutrophil are also seen.
Chédiak–Higashi syndrome
Severe combined immunodeficiency
SAPHO syndrome
Common variable immunodeficiency
Wiskott–Aldrich syndrome
Kabuki syndrome
X-linked severe combined immunodeficiency
Kasabach–Merritt syndrome