Rishi Desai, MD, MPH

Chediak-Higashi syndrome

Medscape

Wikipedia

NOTES NOTES  PHAGOCYTE DEFICIENCIES  GENERALLY, WHAT ARE THEY? PATHOLOGY & CAUSES ▪ Inherited immunodeﬁciency disorders: mutations in genes that code immune-cell functioning ▪ Impaired immune function: recurrent, often severe, life-threatening infections  SIGNS & SYMPTOMS ▪ Recurrent infection history  DIAGNOSIS  LAB RESULTS  ▪ Complete blood count (CBC) ▪ Peripheral blood smear analysis ▪ Genetic testing  TREATMENT MEDICATIONS  ▪ Infection prophylaxis/treatment  OTHER INTERVENTIONS  ▪ Hematopoietic cell transplantation  ▪ Characteristic ﬁndings upon physical examination  CHEDIAK–HIGASHI SYNDROME osms.it/chediak-higashi_syndrome PATHOLOGY & CAUSES ▪ Rare, inherited immunodeﬁciency disorder; impaired leukocyte lysosomal granules function in phagocytes, NK cells → recurrent pyogenic infections ▪ Autosomal recessive; lysosomal trafﬁcking regulator gene CHS1/LYST defect ▫ Trafﬁcking: protein movement within cell ▪ Genetic mutation → impaired trafﬁcking → absent/partially functioning CHS1/LYST protein → large, abnormal intracellular granules → decreased phagocytosis → infections primarily affect skin, mucous  212 OSMOSIS.ORG  membranes, respiratory tract ▪ Accelerated disease phase: profound lymphohistiocytic organ inﬁltration, worsening immunodeﬁciency  RISK FACTORS  ▪ Parental consanguinity  COMPLICATIONS  ▪ Related to impaired intracellular trafﬁcking ▫ Oculocutaneous albinism (reduced skin, eye pigment) ▫ Neurologic abnormalities ▫ Coagulation defects   