Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency

British Journal of Haematology

Volumn 112, Issue 3, 2001, Pages 671-676

  Gilmour, Kimberly C ^a,c,g   Cranston, Treena ^b   Loughlin, Sam ^b   Gwyther, Jackie ^c   Lester, Tracy ^b   Espanol, Teresa ^d   Hernandez, Manuel ^d   Savoldi, Gianfranco ^e   Davies, E Graham ^a,c   Abinun, Mario ^f   Kinnon, Christine ^c   Jones, Alison ^a,c   Gaspar, Hubert B ^a,c  

^a Great Ormond Street Hospital NHS Trust   (United Kingdom)

^b Clinical Genetics Unit   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^e Istituto di Medicina Molecolare Angelo Nocivelli   (Italy)

^f NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^g Camelia Botnar Laboratories   (United Kingdom)

Author keywords

Common gamma chain; JAK3; Protein assays; Severe combined immunodeficiency; Tyrosine phosphorylation

Indexed keywords

HEMOGLOBIN GAMMA CHAIN; INTERLEUKIN 2; PROTEIN TYROSINE KINASE;

ARTICLE; CHILD; CLINICAL ARTICLE; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FLOW CYTOMETRY; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; IMMUNOBLOTTING; IMMUNOPHENOTYPING; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN PHOSPHORYLATION; UNITED KINGDOM; X CHROMOSOME RECESSIVE INHERITANCE;

B-LYMPHOCYTES; DNA MUTATIONAL ANALYSIS; FLOW CYTOMETRY; HUMANS; IMMUNOBLOTTING; IMMUNOGLOBULIN GAMMA-CHAINS; INTERLEUKIN-2; JANUS KINASE 3; KILLER CELLS, NATURAL; PHOSPHORYLATION; PROTEIN-TYROSINE KINASES; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES; X CHROMOSOME;

EID: 0035107095     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.02578.x     Document Type: Article

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