Literature DB >> 26634365

Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent.

Katherine Clarridge1,2, David Leitenberg3,4, Brett Loechelt2, Capuchine Picard5, Michael Keller6.   

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Year:  2015        PMID： 26634365      PMCID： PMC4720537          DOI： 10.1007/s10875-015-0219-4

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


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  4 in total

1.  Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.

Authors:  Wojciech Wiszniewski; Marie-Claude Fondaneche; Pascale Louise-Plence; Ada Prochnicka-Chalufour; Françoise Selz; Cappucine Picard; Françoise Le Deist; Jean-François Eliaou; Alain Fischer; Barbara Lisowska-Grospierre
Journal:  Immunogenetics       Date:  2003-01-16       Impact factor: 2.846

2.  New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study.

Authors:  Michal Krawczyk; Krzysztof Masternak; Madeleine Zufferey; Emmanuèle Barras; Walter Reith
Journal:  Mol Cell Biol       Date:  2005-10       Impact factor: 4.272

3.  A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.

Authors:  K Masternak; E Barras; M Zufferey; B Conrad; G Corthals; R Aebersold; J C Sanchez; D F Hochstrasser; B Mach; W Reith
Journal:  Nat Genet       Date:  1998-11       Impact factor: 38.330

4.  Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infections.

Authors:  Raffaele Renella; Capucine Picard; Bénédicte Neven; Marie Ouachée-Chardin; Jean-Laurent Casanova; Françoise Le Deist; Marina Cavazzana-Calvo; Stéphane Blanche; Alain Fischer
Journal:  Br J Haematol       Date:  2006-09       Impact factor: 6.998
  4 in total
  2 in total

Review 1.  Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.

Authors:  Mohamed-Ridha Barbouche; Najla Mekki; Meriem Ben-Ali; Imen Ben-Mustapha
Journal:  Front Immunol       Date:  2017-06-27       Impact factor: 7.561

2.  Analysis of peptide-SLA binding by establishing immortalized porcine alveolar macrophage cells with different SLA class II haplotypes.

Authors:  Quy Van Chanh Le; Thong Minh Le; Hye-Sun Cho; Won-Il Kim; Kwonho Hong; Hyuk Song; Jin-Hoi Kim; Chankyu Park
Journal:  Vet Res       Date:  2018-09-21       Impact factor: 3.683
  2 in total

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