Literature DB >> 25491289

Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia.

Hossein Esmaeilzadeh1,2, Mohammad Hasan Bemanian1, Mohammad Nabavi1, Saba Arshi1, Morteza Fallahpour1, Ilka Fuchs3, Udo zur Stadt4, Klaus Warnatz3, Sandra Ammann3, Stephan Ehl3, Kai Lehmberg5, Nima Rezaei6,7.   

Abstract

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous hyperinflammatory syndrome, caused by an uncontrolled and ineffective proliferation and activation of T-lymphocytes, NK-cells, and macrophages that infiltrate multiple organs. Herein, a patient is presented who suffered from hepatitis and atypical brain lesions. Genetic studies revealed a homozygous mutation in the STXP2 gene; and thus, the diagnosis of FHL5 was confirmed.

Entities:  

Keywords:  Familial hemophagocytic lymphohistiocytosis; STXBP2; autoimmune hepatitis; brain lesions

Mesh：

Substances：

Year:  2014        PMID： 25491289     DOI： 10.1007/s10875-014-0119-z

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


  12 in total

1.  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

2.  CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis.

Authors:  K Deiva; N Mahlaoui; F Beaudonnet; G de Saint Basile; G Caridade; D Moshous; Y Mikaeloff; S Blanche; A Fischer; M Tardieu
Journal:  Neurology       Date:  2012-03-14       Impact factor: 9.910

3.  Primary hemophagocytic lymphohistiocytosis in Iran: report from a single referral center.

Authors:  Bibi Shahin Shamsian; Nima Rezaei; Samin Alavi; Mona Hedayat; Ali Amin Asnafi; Zahra Pourpak; Atoosa Gharib; Farzaneh Jadali; Mohammad Taghi Arzanian
Journal:  Pediatr Hematol Oncol       Date:  2012-04       Impact factor: 1.969

4.  A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes.

Authors:  Yenan T Bryceson; Daniela Pende; Andrea Maul-Pavicic; Kimberly C Gilmour; Heike Ufheil; Thomas Vraetz; Samuel C Chiang; Stefania Marcenaro; Raffaella Meazza; Ilka Bondzio; Denise Walshe; Gritta Janka; Kai Lehmberg; Karin Beutel; Udo zur Stadt; Nadine Binder; Maurizio Arico; Lorenzo Moretta; Jan-Inge Henter; Stephan Ehl
Journal:  Blood       Date:  2012-01-31       Impact factor: 22.113

5.  Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

Authors:  Marie Meeths; Miriam Entesarian; Waleed Al-Herz; Samuel C C Chiang; Stephanie M Wood; Wafa Al-Ateeqi; Francisco Almazan; Jaap J Boelens; Henrik Hasle; Marianne Ifversen; Bendik Lund; J Merlijn van den Berg; Britt Gustafsson; Hans Hjelmqvist; Magnus Nordenskjöld; Yenan T Bryceson; Jan-Inge Henter
Journal:  Blood       Date:  2010-06-17       Impact factor: 22.113

Review 6.  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

7.  Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.

Authors:  Jan Rohr; Karin Beutel; Andrea Maul-Pavicic; Thomas Vraetz; Jens Thiel; Klaus Warnatz; Ilka Bondzio; Ute Gross-Wieltsch; Michael Schündeln; Barbara Schütz; Wilhelm Woessmann; Andreas H Groll; Brigitte Strahm; Julia Pagel; Carsten Speckmann; Gritta Janka; Gillian Griffiths; Klaus Schwarz; Udo zur Stadt; Stephan Ehl
Journal:  Haematologica       Date:  2010-09-07       Impact factor: 9.941

Review 8.  Hemophagocytic lymphohistiocytosis and other hemophagocytic disorders.

Authors:  Alexandra H Filipovich
Journal:  Immunol Allergy Clin North Am       Date:  2008-05       Impact factor: 3.479

9.  Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.

Authors:  Udo zur Stadt; Jan Rohr; Wenke Seifert; Florian Koch; Samantha Grieve; Julia Pagel; Julia Strauss; Brigitte Kasper; Gudrun Nürnberg; Christian Becker; Andrea Maul-Pavicic; Karin Beutel; Gritta Janka; Gillian Griffiths; Stephan Ehl; Hans Christian Hennies
Journal:  Am J Hum Genet       Date:  2009-10       Impact factor: 11.025

Review 10.  Primary immunodeficiency diseases associated with neurologic manifestations.

Authors:  Soodabeh Fazeli Dehkordy; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2011-10-26       Impact factor: 8.542
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  4 in total

Review 1.  Mechanistic Insights in Hemophagocytic Lymphohistiocytosis: Subsequent Acute Hepatic Failure in a Multiple Myeloma Patient Following Therapy with Ixazomib-Lenalidomide-Dexamethasone.

Authors:  Catalin Constantinescu; Bobe Petrushev; Ioana Rus; Horia Stefanescu; Otilia Frasinariu; Simona Margarit; Delia Dima; Ciprian Tomuleasa
Journal:  J Pers Med       Date:  2022-04-23

2.  Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.

Authors:  Hassan Abolhassani; Fatemeh Kiaee; Marzieh Tavakol; Zahra Chavoshzadeh; Seyed Alireza Mahdaviani; Tooba Momen; Reza Yazdani; Gholamreza Azizi; Sima Habibi; Mohammad Gharagozlou; Masoud Movahedi; Amir Ali Hamidieh; Nasrin Behniafard; Mohammamd Nabavi; Mohammad Hassan Bemanian; Saba Arshi; Rasol Molatefi; Roya Sherkat; Afshin Shirkani; Reza Amin; Soheila Aleyasin; Reza Faridhosseini; Farahzad Jabbari-Azad; Iraj Mohammadzadeh; Javad Ghaffari; Alireza Shafiei; Arash Kalantari; Mahboubeh Mansouri; Mehrnaz Mesdaghi; Delara Babaie; Hamid Ahanchian; Maryam Khoshkhui; Habib Soheili; Mohammad Hossein Eslamian; Taher Cheraghi; Abbas Dabbaghzadeh; Mahmoud Tavassoli; Rasoul Nasiri Kalmarzi; Seyed Hamidreza Mortazavi; Sara Kashef; Hossein Esmaeilzadeh; Javad Tafaroji; Abbas Khalili; Fariborz Zandieh; Mahnaz Sadeghi-Shabestari; Sepideh Darougar; Fatemeh Behmanesh; Hedayat Akbari; Mohammadreza Zandkarimi; Farhad Abolnezhadian; Abbas Fayezi; Mojgan Moghtaderi; Akefeh Ahmadiafshar; Behzad Shakerian; Vahid Sajedi; Behrang Taghvaei; Mojgan Safari; Marzieh Heidarzadeh; Babak Ghalebaghi; Seyed Mohammad Fathi; Behzad Darabi; Saeed Bazregari; Nasrin Bazargan; Morteza Fallahpour; Alireza Khayatzadeh; Naser Javahertrash; Bahram Bashardoust; Mohammadali Zamani; Azam Mohsenzadeh; Sarehsadat Ebrahimi; Samin Sharafian; Ahmad Vosughimotlagh; Mitra Tafakoridelbari; Maziar Rahimi; Parisa Ashournia; Anahita Razaghian; Arezou Rezaei; Setareh Mamishi; Nima Parvaneh; Nima Rezaei; Lennart Hammarström; Asghar Aghamohammadi
Journal:  J Clin Immunol       Date:  2018-10-09       Impact factor: 8.317

3.  Secondary Hemophagocytic Lymphohistiocytosis: A Challenging Diagnosis in a Patient with Autoimmune Hepatitis.

Authors:  Colin Casault; Juan G Posadas-Calleja
Journal:  Case Rep Crit Care       Date:  2019-02-04

4.  Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.

Authors:  William Rae; Daniel Ward; Christopher J Mattocks; Yifang Gao; Reuben J Pengelly; Sanjay V Patel; Sarah Ennis; Saul N Faust; Anthony P Williams
Journal:  Clin Transl Immunology       Date:  2017-09-15
  4 in total

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