Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ + T cells

Journal of Clinical Investigation

Volumn 121, Issue 2, 2011, Pages 695-702

  Morgan, Neil V ^a   Goddard, Sarah ^b   Cardno, Tony S ^c   McDonald, David ^d   Rahman, Fatimah ^a   Barge, Dawn ^e   Ciupek, Andrew ^c   Straatman Iwanowska, Anna ^a   Pasha, Shanaz ^a   Guckian, Mary ^b   Anderson, Graham ^f   Huissoon, Aarnoud ^b   Cant, Andrew ^g   Tate, Warren P ^c   Hambleton, Sophie ^d,g   Maher, Eamonn R ^a,h  

^a UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

^b BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OTAGO   (New Zealand)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e ROYAL VICTORIA INFIRMARY   (United Kingdom)

^f UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^g Infectious Diseases Allergy   (United Kingdom)

^h BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ALEMTUZUMAB; ANTIFUNGAL AGENT; ANTIINFECTIVE AGENT; ANTINUCLEAR ANTIBODY; ANTIVIRUS AGENT; FLUDARABINE; GUANINE; IMMUNOGLOBULIN; IMMUNOGLOBULIN E; MELPHALAN; MESSENGER RNA; T LYMPHOCYTE RECEPTOR ALPHA CHAIN; T LYMPHOCYTE RECEPTOR BETA CHAIN; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR;

AMINO ACID SUBSTITUTION; ANTIBIOTIC PROPHYLAXIS; ANTIBODY TITER; ARTICLE; AUTOIMMUNITY; AUTOSOMAL RECESSIVE INHERITANCE; BONE MARROW TRANSPLANTATION; CANDIDIASIS; CD3+ T LYMPHOCYTE; CHILD; CHROMOSOME 14Q; CODON; COMBINED IMMUNODEFICIENCY; CONSANGUINITY; CONTROLLED STUDY; CYTOPLASM; DIARRHEA; EOSINOPHILIA; EXON; FAILURE TO THRIVE; FAMILY; GENE EXPRESSION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; INFANT; INFECTION SENSITIVITY; INTRACELLULAR TRANSPORT; LONG TERM CARE; OTITIS MEDIA; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; T LYMPHOCYTE; TREATMENT RESPONSE;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HELA CELLS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, ANTIGEN, T-CELL, ALPHA-BETA; T-LYMPHOCYTES;

EID: 79551544623     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI41931     Document Type: Article

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