Literature DB >> 35020838

Diagnosis of HLH: two siblings, two distinct genetic causes.

Claire Escaron1, Elizabeth Ralph1, Shahnaz Bibi2, Johannes Visser3, Maurizio Aricò4, Kanchan Rao5, Paul Veys5, Kimberly Gilmour1.   

Abstract

This report highlights case of two siblings who developed haemophagocytic lymphohystiocytosis due to distinct genetic abnormalities. Though their presentation was clinically similar, the cases demonstrate that a shared genetic diagnosis among siblings cannot be assumed.
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Entities:  

Keywords:  X-linked lymphoproliferative syndrome; genetic pedigree; haemophagocytic lymphohystiocytosis; molecular diagnostics; primary immunodeficiency

Mesh：

Year:  2022        PMID： 35020838      PMCID： PMC8982960          DOI： 10.1093/cei/uxab019

Source DB:  PubMed          Journal:  Clin Exp Immunol        ISSN： 0009-9104            Impact factor:   4.330


  10 in total

1.  Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members.

Authors:  Kazuhiro Kogawa; Susan M Lee; Joyce Villanueva; Daniel Marmer; Janos Sumegi; Alexandra H Filipovich
Journal:  Blood       Date:  2002-01-01       Impact factor: 22.113

2.  HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

Authors:  Jan-Inge Henter; Annacarin Horne; Maurizio Aricó; R Maarten Egeler; Alexandra H Filipovich; Shinsaku Imashuku; Stephan Ladisch; Ken McClain; David Webb; Jacek Winiarski; Gritta Janka
Journal:  Pediatr Blood Cancer       Date:  2007-02       Impact factor: 3.167

3.  A double cure: Omenn syndrome and β thalassaemia successfully treated with mismatched unrelated donor transplantation.

Authors:  V Wootten; N Goulden; P Veys; W Qasim
Journal:  Bone Marrow Transplant       Date:  2011-05-23       Impact factor: 5.483

4.  Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.

Authors:  Marjorie Côte; Mickaël M Ménager; Agathe Burgess; Nizar Mahlaoui; Capucine Picard; Catherine Schaffner; Fahad Al-Manjomi; Musa Al-Harbi; Abdullah Alangari; Françoise Le Deist; Andrew R Gennery; Nathalie Prince; Astrid Cariou; Patrick Nitschke; Ulrich Blank; Gehad El-Ghazali; Gaël Ménasché; Sylvain Latour; Alain Fischer; Geneviève de Saint Basile
Journal:  J Clin Invest       Date:  2009-11-02       Impact factor: 14.808

5.  Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.

Authors:  Stefania Marcenaro; Federico Gallo; Stefania Martini; Alessandra Santoro; Gillian M Griffiths; Maurizio Aricó; Lorenzo Moretta; Daniela Pende
Journal:  Blood       Date:  2006-06-15       Impact factor: 22.113

6.  Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.

Authors:  Udo zur Stadt; Susanne Schmidt; Brigitte Kasper; Karin Beutel; A Sarper Diler; Jan-Inge Henter; Hartmut Kabisch; Reinhard Schneppenheim; Peter Nürnberg; Gritta Janka; Hans Christian Hennies
Journal:  Hum Mol Genet       Date:  2005-02-09       Impact factor: 6.150

Review 7.  Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.

Authors:  C Gholam; S Grigoriadou; K C Gilmour; H B Gaspar
Journal:  Clin Exp Immunol       Date:  2011-03       Impact factor: 4.330

Review 8.  X-linked lymphoproliferative syndromes: brothers or distant cousins?

Authors:  Alexandra H Filipovich; Kejian Zhang; Andrew L Snow; Rebecca A Marsh
Journal:  Blood       Date:  2010-07-26       Impact factor: 22.113

9.  Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Authors:  Vanessa Gadoury-Levesque; Lei Dong; Rui Su; Jianjun Chen; Kejian Zhang; Kimberly A Risma; Rebecca A Marsh; Miao Sun
Journal:  Blood Adv       Date:  2020-06-23

10.  Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.

Authors:  Valentina Cetica; Yvonne Hackmann; Samantha Grieve; Elena Sieni; Benedetta Ciambotti; Maria Luisa Coniglio; Daniela Pende; Kimberly Gilmour; Paolo Romagnoli; Gillian M Griffiths; Maurizio Aricò
Journal:  J Allergy Clin Immunol       Date:  2014-10-11       Impact factor: 10.793
  10 in total

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