Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

Human Mutation

Volumn 18, Issue 4, 2001, Pages 255-263

  Notarangelo, Luigi D ^a,e   Mella, Patrizia ^a   Jones, Alison ^a   De Basile, Genevieve Saint ^b   Savoldi, Gianfranco ^b   Cranston, Treena ^c   Vihinen, Mauno ^d   Schumacher, Richard Fabian ^d  

^a UNIVERSITY OF BRESCIA   (Italy)

^b Hospital for Sick Children   (United Kingdom)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITY OF TAMPERE   (Finland)

^e TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

Autosomal recessive; Cytokine receptor; Immune deficiency; Intracellular; JAK3; Mutation database; SCID; Severe combined immune deficiency; Tyrosine kinase

Indexed keywords

CYTOKINE RECEPTOR; DNA; GAMMA CHEMOKINE; GENE PRODUCT; JANUS KINASE 3; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; B LYMPHOCYTE ACTIVATION; CLINICAL ARTICLE; CLINICAL FEATURE; COMBINED IMMUNODEFICIENCY; DISEASE ASSOCIATION; DISEASE SEVERITY; EARLY DIAGNOSIS; ENZYME DEFICIENCY; ENZYME STRUCTURE; FAMILIAL DISEASE; FEMALE; GENE AMPLIFICATION; GENE ISOLATION; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; HEMATOPOIETIC STEM CELL; HUMAN; IMMUNOPATHOLOGY; INFANT; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR BINDING; REVIEW; SCREENING TEST; STEM CELL TRANSPLANTATION; T LYMPHOCYTE ACTIVATION;

GENETIC COUNSELING; HUMANS; JANUS KINASE 3; MODELS, MOLECULAR; MUTATION; POLYMORPHISM, GENETIC; PROTEIN CONFORMATION; PROTEIN-TYROSINE KINASES; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 0034804745     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1188     Document Type: Review

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