Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency

Journal of Allergy and Clinical Immunology

Volumn 139, Issue 2, 2017, Pages 634-642.e5

  Bacchelli, Chiara ^a   Moretti, Federico A ^a   Carmo, Marlene ^a   Adams, Stuart ^b   Stanescu, Horia C ^c   Pearce, Kerra ^a   Madkaikar, Manisha ^a,d   Gilmour, Kimberly C ^a,b   Nicholas, Adeline K ^e   Woods, C Geoffrey ^e   Kleta, Robert ^c   Beales, Phil L ^a   Qasim, Waseem ^a,b   Gaspar, H Bobby ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c ROYAL FREE HOSPITAL   (United Kingdom)

^d NATIONAL INSTITUTE OF IMMUNOHAEMATOLOGY   (India)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

genetic defect; immunodeficiency; linker for activation of T cells; Severe combined immunodeficiency; T lymphopenia; T cell receptor signaling

Indexed keywords

CALCIUM ION; GENOMIC DNA; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INTERLEUKIN 7 RECEPTOR ALPHA; LAT PROTEIN; OKT 3; LAT PROTEIN, HUMAN; LYMPHOCYTE ANTIGEN RECEPTOR; MEMBRANE PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

APOPTOSIS; ARTICLE; CALCIUM CELL LEVEL; CLINICAL ARTICLE; CLINICAL OUTCOME; DISEASE SEVERITY; FAILURE TO THRIVE; FAMILY HISTORY; FEMALE; FLUORESCENCE ACTIVATED CELL SORTING; FRAMESHIFT MUTATION; GENE TRANSFER; GENETIC ANALYSIS; HAPLOTYPE; HELA CELL LINE; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOPHENOTYPING; IN VITRO STUDY; LYMPHOCYTE ACTIVATION; MALE; NATURAL KILLER CELL; NONSENSE MEDIATED MRNA DECAY; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENT INFECTION; SANGER SEQUENCING; SEVERE COMBINED IMMUNODEFICIENCY; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; STOP CODON; T LYMPHOCYTE ACTIVATION; UPREGULATION; WESTERN BLOTTING; CALCIUM SIGNALING; CELL DIFFERENTIATION; CONSANGUINITY; GENE DELETION; GENETICS; GENOTYPE; HOMOZYGOTE; JURKAT CELL LINE; METABOLISM; PAKISTAN; PEDIGREE; PHYSIOLOGY; T LYMPHOCYTE; TRANSGENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; APOPTOSIS; CALCIUM SIGNALING; CELL DIFFERENTIATION; CONSANGUINITY; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; JURKAT CELLS; LYMPHOCYTE ACTIVATION; MALE; MEMBRANE PROTEINS; PAKISTAN; PEDIGREE; RECEPTORS, ANTIGEN, T-CELL; SEQUENCE DELETION; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES; TRANSGENES;

EID: 84994275274     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2016.05.036     Document Type: Article

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