Literature DB >> 25893637

Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.

Adeeb NaserEddin1, Oded Shamriz, Baerbel Keller, Raed M Alzyoud, Susanne Unger, Paul Fisch, Evgenia Prus, Yakov Berkun, Diana Averbuch, Avraham Shaag, Adel M Wahadneh, Mary Ellen Conley, Klaus Warnatz, Orly Elpeleg, Polina Stepensky.   

Abstract

B-cell linker (BLNK) protein is a non-redundant adaptor molecule in the signaling pathway activated by (pre) B-cell antigen receptor signals. We present two siblings with a homozygous deleterious frameshift mutation in BLNK, resulting in a block of B cell development in the bone marrow at the preB1 to preB2 stage, absence of circulating B cells and agammaglobulinemia. This is the first description of an enteroviral infection associated arthritis and dermatitis in a patient with BLNK deficiency.

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Year:  2015        PMID： 25893637     DOI： 10.1007/s10875-015-0164-2

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


  19 in total

1.  Chronic enteroviral meningo-encephalitis in X-linked agammaglobulinaemia: favourable response to anti-enteroviral treatment.

Authors:  M Schmugge; R Lauener; W Bossart; R A Seger; T Güngör
Journal:  Eur J Pediatr       Date:  1999-12       Impact factor: 3.183

2.  Importance of B cell co-stimulation in CD4(+) T cell differentiation: X-linked agammaglobulinaemia, a human model.

Authors:  H Martini; V Enright; M Perro; S Workman; J Birmelin; E Giorda; I Quinti; V Lougaris; M Baronio; K Warnatz; B Grimbacher
Journal:  Clin Exp Immunol       Date:  2011-04-13       Impact factor: 4.330

3.  Persistent and fatal central-nervous-system ECHOvirus infections in patients with agammaglobulinemia.

Authors:  C M Wilfert; R H Buckley; T Mohanakumar; J F Griffith; S L Katz; J K Whisnant; P A Eggleston; M Moore; E Treadwell; M N Oxman; F S Rosen
Journal:  N Engl J Med       Date:  1977-06-30       Impact factor: 91.245

4.  An essential role for BLNK in human B cell development.

Authors:  Y Minegishi; J Rohrer; E Coustan-Smith; H M Lederman; R Pappu; D Campana; A C Chan; M E Conley
Journal:  Science       Date:  1999-12-03       Impact factor: 47.728

5.  Successful treatment of echovirus meningoencephalitis and myositis-fasciitis with intravenous immune globulin therapy in a patient with X-linked agammaglobulinemia.

Authors:  P J Mease; H D Ochs; R J Wedgwood
Journal:  N Engl J Med       Date:  1981-05-21       Impact factor: 91.245

6.  The BLNK adaptor protein has a nonredundant role in human B-cell differentiation.

Authors:  Chantal Lagresle-Peyrou; Michèle Millili; Sonia Luce; Annie Boned; Hanem Sadek; Julien Rouiller; Pierre Frange; Guilhem Cros; Marina Cavazzana; Isabelle André-Schmutz; Claudine Schiff
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

7.  Deficiency of the adaptor SLP-65 in pre-B-cell acute lymphoblastic leukaemia.

Authors:  Hassan Jumaa; Lukas Bossaller; Karina Portugal; Bettina Storch; Michael Lotz; Alexandra Flemming; Martin Schrappe; Ville Postila; Pekka Riikonen; Jukka Pelkonen; Charlotte M Niemeyer; Michael Reth
Journal:  Nature       Date:  2003-05-22       Impact factor: 49.962

Review 8.  Chronic enteroviral meningoencephalitis in agammaglobulinemic patients.

Authors:  R E McKinney; S L Katz; C M Wilfert
Journal:  Rev Infect Dis       Date:  1987 Mar-Apr

9.  Lymphocyte analysis in a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency after development of echovirus dermatomyositis and meningoencephalitis.

Authors:  D K Wagner; G E Marti; E S Jaffe; S E Straus; D L Nelson; T A Fleisher
Journal:  Int Arch Allergy Appl Immunol       Date:  1989

Review 10.  Dermatomyositis-like syndrome in X-linked hypogammaglobulinemia. Case-report and review of the literature.

Authors:  A Thyss; P el Baze; J C Lefebvre; M Schneider; J P Ortonne
Journal:  Acta Derm Venereol       Date:  1990       Impact factor: 4.437
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  7 in total

1.  [Structure and function of B-cell linker and its role in the development of B cell-related diseases].

Authors:  Bin Xiao; Jiaying Li; Mengsi Zhou; Xiaoqing Li; Xiaoyan Huang; Jianfeng Hang; Zhaohui Sun; Linhai Li
Journal:  Nan Fang Yi Ke Da Xue Xue Bao       Date:  2019-02-28

Review 2.  Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies.

Authors:  Kathleen E Sullivan; Hamid Bassiri; Ahmed A Bousfiha; Beatriz T Costa-Carvalho; Alexandra F Freeman; David Hagin; Yu L Lau; Michail S Lionakis; Ileana Moreira; Jorge A Pinto; M Isabel de Moraes-Pinto; Amit Rawat; Shereen M Reda; Saul Oswaldo Lugo Reyes; Mikko Seppänen; Mimi L K Tang
Journal:  J Clin Immunol       Date:  2017-08-07       Impact factor: 8.317

3.  A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years.

Authors:  Ezgi Topyildiz; Neslihan Edeer Karaca; Ayse Aygun; Ayca Aykut; Asude Durmaz; Guzide Aksu; Necil Kutukculer
Journal:  Case Reports Immunol       Date:  2022-06-10

4.  Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.

Authors:  Charlotte A Slade; Catriona McLean; Thomas Scerri; Tran Binh Giang; Steven Megaloudis; Alexander Strathmore; Jessica C Tempany; Katherine Nicholls; Colleen D'Arcy; Melanie Bahlo; Philip D Hodgkin; Jo A Douglass; Vanessa L Bryant
Journal:  J Clin Immunol       Date:  2019-03-29       Impact factor: 8.542

5.  Potential immunosuppressive effects of Escherichia coli O157:H7 experimental infection on the bovine host.

Authors:  E Kieckens; J Rybarczyk; R W Li; D Vanrompay; E Cox
Journal:  BMC Genomics       Date:  2016-12-21       Impact factor: 3.969

6.  Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis.

Authors:  Christoph B Geier; Kai M T Sauerwein; Alexander Leiss-Piller; Isabella Zmek; Michael B Fischer; Martha M Eibl; Hermann M Wolf
Journal:  Front Immunol       Date:  2018-12-18       Impact factor: 7.561

Review 7.  Update on Infections in Primary Antibody Deficiencies.

Authors:  Yesim Yilmaz Demirdag; Sudhir Gupta
Journal:  Front Immunol       Date:  2021-02-11       Impact factor: 7.561
  7 in total

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