Literature DB >> 18421721

Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia.

Kris Ann P Schultz1, Joseph P Neglia, Angela R Smith, Hans D Ochs, Troy R Torgerson, Ashish Kumar.   

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is often familial and is associated with high mortality. Primary (familial) HLH is known to occur in children with mutations in perforin, Munc13-4, or syntaxin 11. We describe a case series of two brothers who developed HLH in the setting of X-linked agammaglobulinemia (XLA, Bruton's disease) and adenovirus infection. Further studies revealed absence of Bruton's tyrosine kinase (BTK) protein expression and a novel BTK mutation.

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Year:  2008        PMID： 18421721     DOI： 10.1002/pbc.21573

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


  7 in total

1.  The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.

Authors:  Sebastian Fn Bode; Sandra Ammann; Waleed Al-Herz; Mihaela Bataneant; Christopher C Dvorak; Stephan Gehring; Andrew Gennery; Kimberly C Gilmour; Luis I Gonzalez-Granado; Ute Groß-Wieltsch; Marianne Ifversen; Jenny Lingman-Framme; Susanne Matthes-Martin; Rolf Mesters; Isabelle Meyts; Joris M van Montfrans; Jana Pachlopnik Schmid; Sung-Yun Pai; Pere Soler-Palacin; Uta Schuermann; Volker Schuster; Markus G Seidel; Carsten Speckmann; Polina Stepensky; Karl-Walter Sykora; Bianca Tesi; Thomas Vraetz; Catherine Waruiru; Yenan T Bryceson; Despina Moshous; Kai Lehmberg; Michael B Jordan; Stephan Ehl
Journal:  Haematologica       Date:  2015-05-28       Impact factor: 9.941

2.  Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement.

Authors:  Giuliana Giardino; Maia De Luca; Emilia Cirillo; Paolo Palma; Roberta Romano; Massimiliano Valeriani; Laura Papetti; Carol Saunders; Caterina Cancrini; Claudio Pignata
Journal:  Front Immunol       Date:  2017-12-21       Impact factor: 7.561

3.  Hemophagocytic Lymphohistiocytosis in Association With Clostridium difficile Infection and Cutaneous T-Cell Lymphoma.

Authors:  Suresh Kumar Nayudu; Nadia Fida; Anna Acidera; Myrta Daniel; Donald Rudikoff; Masooma Niazi; Sridhar Chilimuri
Journal:  World J Oncol       Date:  2011-06-08

4.  Complement C4 Prevents Viral Infection through Capsid Inactivation.

Authors:  Maria Bottermann; Stian Foss; Sarah L Caddy; Dean Clift; Laurens M van Tienen; Marina Vaysburd; James Cruickshank; Kevin O'Connell; Jessica Clark; Keith Mayes; Katie Higginson; Heidrun E Lode; Martin B McAdam; Inger Sandlie; Jan Terje Andersen; Leo C James
Journal:  Cell Host Microbe       Date:  2019-03-26       Impact factor: 21.023

5.  A Novel BTK Gene Mutation in a Child With Atypical X-Linked Agammaglobulinemia and Recurrent Hemophagocytosis: A Case Report.

Authors:  Shu-Ping Han; Yung-Feng Lin; Hui-Ying Weng; Shih-Feng Tsai; Lin-Shien Fu
Journal:  Front Immunol       Date:  2019-08-20       Impact factor: 7.561

Review 6.  Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: Recommendations from the North American Consortium for Histiocytosis (NACHO).

Authors:  Michael B Jordan; Carl E Allen; Jay Greenberg; Michael Henry; Michelle L Hermiston; Ashish Kumar; Melissa Hines; Olive Eckstein; Stephan Ladisch; Kim E Nichols; Carlos Rodriguez-Galindo; Birte Wistinghausen; Kenneth L McClain
Journal:  Pediatr Blood Cancer       Date:  2019-07-24       Impact factor: 3.167

7.  Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.

Authors:  Yu-Hsin Yeh; Meng-Ying Hsieh; Wen-I Lee; Jing-Long Huang; Li-Chen Chen; Kuo-Wei Yeh; Liang-Shiou Ou; Tsung-Chieh Yao; Chao-Yi Wu; Syh-Jae Lin
Journal:  Front Immunol       Date:  2020-09-04       Impact factor: 7.561
  7 in total

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