Chédiak-higashi Syndrome: a Case Report

Overview

Journal Indian J Hematol Blood Transfus

Specialty Hematology

Date 2014 Jan 16

PMID 24426342

Citations 1

Authors

Shashikant C U Patne

Sandip Kumar

Narendra Kumar Bagri

Ashok Kumar

Jyoti Shukla

Affiliations

Soon will be listed here.

Abstract

Chédiak-Higashi syndrome (CHS) is an extremely rare autosomal recessive immunodeficiency disorder. Approximately 200 cases have been reported worldwide. To the best of our knowledge, not more than 10 cases have been reported from India. Herein we are reporting a case of CHS in one-and-half-year-old boy who presented to us in the accelerated phase of disease. Other syndromes presenting with similar clinical features have also been discussed.

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References

Usha H, Prabhu P, Sridevi M, Baindur K, Balakrishnan C . Chediak-Higashi syndrome. Indian Pediatr. 1994; 31(9):1115-9. View

Malhotra A, Bhaskar G, Nanda M, Kabra M, Singh M, Ramam M . Griscelli syndrome. J Am Acad Dermatol. 2006; 55(2):337-40. DOI: 10.1016/j.jaad.2005.11.1056. View

Sheela S, Latha M, Injody S . Griscelli syndrome: Rab 27a mutation. Indian Pediatr. 2004; 41(9):944-7. View

Al-Sheyyab M, Daoud A, El-Shanti H . Chediak-Higashi syndrome: a report of eight cases from three families. Indian Pediatr. 2000; 37(1):69-75. View

Rath S, Jain V, Marwaha R, Trehan A, Rajesh L, Kumar V . Griscelli syndrome. Indian J Pediatr. 2004; 71(2):173-5. DOI: 10.1007/BF02723104. View