Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium-Reference-Cited by-同舟云学术

Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium

Published:2017-02 Issue:2 Volume:139 Page:690-692.e3
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

Kumánovics Attila,Lee Yu Nee,Close Devin W.,Coonrod Emily M.,Ujhazi Boglarka,Chen Karin,MacArthur Daniel G.,Krivan Gergely,Notarangelo Luigi D.,Walter Jolan E.

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference17 articles.

1. An immunodeficiency disease with RAG mutations and granulomas;Schuetz;N Engl J Med,2008

2. RAG mutations in human B cell-negative SCID;Schwarz;Science,1996

3. A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency;Lee;J Allergy Clin Immunol,2014

4. Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations;Chen;J Allergy Clin Immunol,2014

5. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience;Shearer;J Allergy Clin Immunol,2014

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