Literature DB >> 15053385

Griscelli syndrome.

Sanjeev Rath1, Vivek Jain, R K Marwaha, Amita Trehan, L S Rajesh, Vijay Kumar.   

Abstract

An eight month old male infant presented with recurrent infections and partial albinism. Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair biopsies in Griscelli syndrome are distinctive.

Entities:  

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Year:  2004        PMID： 15053385     DOI： 10.1007/bf02723104

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  13 in total

1.  Hemophagocytic lymphohistiocytosis: a case series.

Authors:  L G Mathew; T Cherian; A Sudarshanam; I Korah; N K Kumar; P Raghupathy
Journal:  Indian Pediatr       Date:  2000-05       Impact factor: 1.411

2.  Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Authors:  G Ménasché; E Pastural; J Feldmann; S Certain; F Ersoy; S Dupuis; N Wulffraat; D Bianchi; A Fischer; F Le Deist; G de Saint Basile
Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

Review 3.  Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature.

Authors:  A J Mancini; L S Chan; A S Paller
Journal:  J Am Acad Dermatol       Date:  1998-02       Impact factor: 11.527

4.  Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli's syndrome).

Authors:  L C Schneider; R S Berman; C R Shea; A R Perez-Atayde; H Weinstein; R S Geha
Journal:  J Clin Immunol       Date:  1990-05       Impact factor: 8.317

5.  Partial albinism with immunodeficiency (Griscelli syndrome).

Authors:  C Klein; N Philippe; F Le Deist; S Fraitag; C Prost; A Durandy; A Fischer; C Griscelli
Journal:  J Pediatr       Date:  1994-12       Impact factor: 4.406

6.  A kindred with Griscelli disease: spectrum of neurological involvement.

Authors:  H Hurvitz; R Gillis; S Klaus; A Klar; F Gross-Kieselstein; E Okon
Journal:  Eur J Pediatr       Date:  1993-05       Impact factor: 3.183

7.  Griscelli syndrome: report of three cases.

Authors:  S Göğüş; M Topçu; T Küçükali; Z Akçören; I Berkel; F Ersoy; M Günay; I Saatçi
Journal:  Pediatr Pathol Lab Med       Date:  1995 Mar-Apr

8.  Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant).

Authors:  A Durandy; J Breton-Gorius; D Guy-Grand; C Dumez; C Griscelli
Journal:  Prenat Diagn       Date:  1993-01       Impact factor: 3.050

9.  Griscelli disease with cerebral involvement.

Authors:  A Haraldsson; C M Weemaes; J A Bakkeren; R Happle
Journal:  Eur J Pediatr       Date:  1991-04       Impact factor: 3.183

10.  A syndrome associating partial albinism and immunodeficiency.

Authors:  C Griscelli; A Durandy; D Guy-Grand; F Daguillard; C Herzog; M Prunieras
Journal:  Am J Med       Date:  1978-10       Impact factor: 4.965
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  3 in total

1.  Chédiak-higashi syndrome: a case report.

Authors:  Shashikant C U Patne; Sandip Kumar; Narendra Kumar Bagri; Ashok Kumar; Jyoti Shukla
Journal:  Indian J Hematol Blood Transfus       Date:  2012-02-01       Impact factor: 0.900

2.  Acute Phase Reaction after Femur Fracture in a Child with Griscelli Syndrome.

Authors:  İrfan Güngör; Akif Muhtar Öztürk; Kadir Kaya; Hülya Çelebi; Bahadır Kösem
Journal:  Turk J Anaesthesiol Reanim       Date:  2014-03-11

3.  An Indian boy with griscelli syndrome type 2: case report and review of literature.

Authors:  Ankur Singh; Amit Garg; Seema Kapoor; Nita Khurana; Miriam Entesarian; Bianca Tesi
Journal:  Indian J Dermatol       Date:  2014-07       Impact factor: 1.494
  3 in total

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