Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness

Clinical and Experimental Immunology

Volumn 129, Issue 3, 2002, Pages 502-509

  Ursini, M V ^b   Gaetaniello, L ^a   Ambrosio, R ^b   Matrecano, E ^a   Apicella, A J ^b   Salerno, M C ^a   Pignata, C ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

Author keywords

Idiopathic short stature; Janus kinase 2; Severe combined immunodeficiency; Signal transducer and activators of transcription 5

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR; INTERLEUKIN 2 RECEPTOR; JANUS KINASE; SOMATOMEDIN C; STAT5 PROTEIN; STAT5B PROTEIN; T LYMPHOCYTE RECEPTOR; TYROSINE;

ARTICLE; B LYMPHOCYTE; BONE AGE; CASE REPORT; CLINICAL FEATURE; COMBINED IMMUNODEFICIENCY; DISEASE ASSOCIATION; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GROWTH RATE; HORMONAL REGULATION; HORMONE RESISTANCE; HUMAN; LYMPHOCYTE FUNCTION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NATURAL KILLER CELL; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN PHOSPHORYLATION; RECEPTOR BLOCKING; SHORT STATURE; T LYMPHOCYTE; X CHROMOSOME LINKAGE;

ANTIGENS, DIFFERENTIATION, T-LYMPHOCYTE; BODY HEIGHT; CELLS, CULTURED; DNA-BINDING PROTEINS; FOLLOW-UP STUDIES; HUMAN GROWTH HORMONE; HUMANS; INFANT; INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT; JANUS KINASE 2; LINKAGE (GENETICS); LYMPHOCYTE ACTIVATION; MALE; MILK PROTEINS; PEDIGREE; PHENOTYPE; PHOSPHORYLATION; PROTEIN-TYROSINE KINASES; PROTO-ONCOGENE PROTEINS; RECEPTORS, ANTIGEN, T-CELL; RECEPTORS, INTERLEUKIN-7; RECEPTORS, SOMATOTROPIN; RNA, MESSENGER; SEVERE COMBINED IMMUNODEFICIENCY; STAT5 TRANSCRIPTION FACTOR; T-LYMPHOCYTES; TRANS-ACTIVATORS; X CHROMOSOME;

EID: 0036037370     PISSN: 00099104     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2249.2002.01823.x     Document Type: Article

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