Medicine & USMLE

Chediak-Higashi Syndrome

  1. Selective IgA Deficiency
  2. Chediak-Higashi Syndrome
  3. DiGeorge Syndrome
  4. Bruton (X-linked) Agammaglobulinemia
  5. Hyper-IgM Syndrome
  6. IPEX
  7. Leukocyte Adhesion Deficiency (LAD)
  8. Chronic Granulomatous Disease (CGD)
  9. IL-12 Receptor Deficiency
  10. Wiskott-Aldrich Syndrome

Chediak-Higashi Syndrome is an autosomal recessive immunodeficiency, caused by defects in the LYST protein.

Defects in LYST, or lysosomal trafficking regulator protein, cause problems in vesicle transport, which most significantly impair phagosome-lysosome fusion. Due to defects in phacoytosis, patients are immunocompromised and present with recurrent pyogenic infections. Other clinical manifestations include progressive neurologic dysfunction, and albinism.

On blood smear, giant granules are observed in granulocytes, and a complication to look out for is infiltrative lymphohistiocytosis (overactive lymphocytes and histiocytes) with resulting pancytopenia.

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