Literature DB >> 24426342

Chédiak-higashi syndrome: a case report.

Shashikant C U Patne1, Sandip Kumar1, Narendra Kumar Bagri2, Ashok Kumar2, Jyoti Shukla1.   

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.

Entities:  

Keywords:  Chédiak-Higashi syndrome; Granular abnormality; Immunodeficiency disorder; Silvery hair syndrome

Year:  2012        PMID： 24426342      PMCID： PMC3636352          DOI： 10.1007/s12288-011-0130-y

Source DB:  PubMed          Journal:  Indian J Hematol Blood Transfus        ISSN： 0971-4502            Impact factor:   0.900


  8 in total

Review 1.  Chediak-Higashi syndrome: a report of eight cases from three families.

Authors:  M Al-Sheyyab; A S Daoud; H El-Shanti
Journal:  Indian Pediatr       Date:  2000-01       Impact factor: 1.411

2.  Chediak-Higashi syndrome.

Authors:  P Kumar; K S Rao; P Shashikala; H R Chandrashekar; C R Banapurmath
Journal:  Indian J Pediatr       Date:  2000-08       Impact factor: 1.967

3.  Griscelli syndrome: Rab 27a mutation.

Authors:  S R Sheela; Manoj Latha; Susy J Injody
Journal:  Indian Pediatr       Date:  2004-09       Impact factor: 1.411

4.  Griscelli syndrome.

Authors:  Amit Kumar Malhotra; G Bhaskar; Mousmee Nanda; Madhulika Kabra; Manoj K Singh; M Ramam
Journal:  J Am Acad Dermatol       Date:  2006-08       Impact factor: 11.527

5.  Pseudo Chediak-Higashi anomaly in acute myelomonocytic leukemia.

Authors:  Seema Rao; Rakhee Kar; Renu Saxena
Journal:  Indian J Pathol Microbiol       Date:  2009 Apr-Jun       Impact factor: 0.740

6.  Chediak-Higashi syndrome.

Authors:  H N Usha; P D Prabhu; M Sridevi; K Baindur; C M Balakrishnan
Journal:  Indian Pediatr       Date:  1994-09       Impact factor: 1.411

7.  Griscelli syndrome.

Authors:  Sanjeev Rath; Vivek Jain; R K Marwaha; Amita Trehan; L S Rajesh; Vijay Kumar
Journal:  Indian J Pediatr       Date:  2004-02       Impact factor: 1.967

8.  Accelerated phase at initial presentation: an uncommon occurrence in Chédiak-Higashi syndrome.

Authors:  J Ahluwalia; S Pattari; A Trehan; R K Marwaha; G Garewal
Journal:  Pediatr Hematol Oncol       Date:  2003 Oct-Nov       Impact factor: 1.969
  8 in total
  1 in total

1.  Fifteen Shades of Grey: Combined Analysis of Genome-Wide SNP Data in Steppe and Mediterranean Grey Cattle Sheds New Light on the Molecular Basis of Coat Color.

Authors:  Gabriele Senczuk; Lorenzo Guerra; Salvatore Mastrangelo; Claudia Campobasso; Kaouadji Zoubeyda; Meghelli Imane; Donata Marletta; Szilvia Kusza; Taki Karsli; Semir Bachir Souheil Gaouar; Fabio Pilla; Elena Ciani
Journal:  Genes (Basel)       Date:  2020-08-13       Impact factor: 4.096
  1 in total

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