Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa-Reference-Cited by-同舟云学术

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

Published:2018-12-14 Issue: Volume:9 Page:
ISSN:1664-3224
Container-title:Frontiers in Immunology
language:
Short-container-title:Front. Immunol.

Author:

Neves João Farela,Doffinger Rainer,Barcena-Morales Gabriela,Martins Catarina,Papapietro Olivier,Plagnol Vincent,Curtis James,Martins Marta,Kumararatne Dinakantha,Cordeiro Ana Isabel,Neves Conceição,Borrego Luis Miguel,Katan Matilda,Nejentsev Sergey

Funder

Medical Research Council

National Institute for Health Research

Publisher

Frontiers Media SA

Subject

Immunology,Immunology and Allergy

Reference22 articles.

1. More than just infections: an update on primary immune deficiencies;Savides;Curr Opin Pediatr.,2010

2. Pathogen recognition and inflammatory signaling in innate immune defenses;Mogensen;Clin Microbiol Rev.,2009

3. A mutation outside the dimerization domain causing atypical STING-associated vasculopathy with onset in infancy;Saldanha;Front Immunol.,2018

4. Monogenic autoinflammatory diseases: concept and clinical manifestations;de Jesus;Clin Immunol.,2013

5. Lighting the fires within: the cell biology of autoinflammatory diseases;Park;Nat Rev Immunol.,2012

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