Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development

Journal of Allergy and Clinical Immunology

Volumn 133, Issue 4, 2014, Pages

  Yu, Xiaomin ^a   Almeida, Jorge R ^a   Darko, Sam ^a   Van Der Burg, Mirjam ^b   Deravin, Suk See ^a   Malech, Harry ^a   Gennery, Andrew ^c,d   Chinn, Ivan ^e   Markert, Mary Louise ^e   Douek, Daniel C ^a   Milner, Joshua D ^a  

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Omenn syndrome; recombination activating gene; T cell receptor; T cell receptor sequencing

Indexed keywords

INTERLEUKIN 2 RECEPTOR GAMMA; T LYMPHOCYTE RECEPTOR;

ARTICLE; AUTOIMMUNITY; CD3+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELL SELECTION; CLINICAL ARTICLE; COMPLEMENTARITY DETERMINING REGION; CONTROLLED STUDY; DIGEORGE SYNDROME; ENZYME ACTIVITY; ERYTHRODERMA; FLOW CYTOMETRY; GENE MUTATION; GRANULOMATOSIS; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; IMMUNOREGULATION; LYMPHADENOPATHY; LYMPHOCYTOSIS; OMENN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY;

OMENN SYNDROME; RECOMBINATION ACTIVATING GENE; T-CELL RECEPTOR; T-CELL RECEPTOR SEQUENCING;

AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; COMPLEMENTARITY DETERMINING REGIONS; DNA-BINDING PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT; MALE; MUTATION; NUCLEAR PROTEINS; RECEPTORS, ANTIGEN, T-CELL; RECEPTORS, ANTIGEN, T-CELL, ALPHA-BETA; SEQUENCE ANALYSIS, DNA; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTE SUBSETS; ZAP-70 PROTEIN-TYROSINE KINASE;

EID: 84897421218     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.11.018     Document Type: Article

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