Literature DB >> 29243022

A Novel Mutation in CD40LG Gene Causing X-Linked Hyper IgM Syndrome.

Hyung Young Kim1, Tae Min Um1, Hee Ju Park2.   

Abstract

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Year:  2017        PMID： 29243022     DOI： 10.1007/s12098-017-2526-7

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis.

Authors:  Joel Gallagher; Juan Adams; Mary Hintermeyer; Troy R Torgerson; Jesus Lopez-Guisa; Hans D Ochs; Sara Szabo; Mina Salib; James Verbsky; John Routes
Journal:  J Clin Immunol       Date:  2016-06-20       Impact factor: 8.317

Review 2.  Clinical Phenotypes of Hyper-IgM Syndromes.

Authors:  M Teresa de la Morena
Journal:  J Allergy Clin Immunol Pract       Date:  2016 Nov - Dec

Review 3.  Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies.

Authors:  Janet Chou; Toshiro K Ohsumi; Raif S Geha
Journal:  Curr Opin Allergy Clin Immunol       Date:  2012-12

Review 4.  Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

Authors:  Capucine Picard; Waleed Al-Herz; Aziz Bousfiha; Jean-Laurent Casanova; Talal Chatila; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Steven M Holland; Christoph Klein; Shigeaki Nonoyama; Hans D Ochs; Eric Oksenhendler; Jennifer M Puck; Kathleen E Sullivan; Mimi L K Tang; Jose Luis Franco; H Bobby Gaspar
Journal:  J Clin Immunol       Date:  2015-10-19       Impact factor: 8.317

5.  First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.

Authors:  Luis Alberto Pedroza; Nina Guerrero; Asbjørg Stray-Pedersen; Cristina Tafur; Roque Macias; Greta Muñoz; Zeynep Coban Akdemir; Shalini N Jhangiani; Levi B Watkin; Ivan K Chinn; James R Lupski; Jordan S Orange
Journal:  Front Pediatr       Date:  2017-02-10       Impact factor: 3.418
  5 in total

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