title: Cytokine-mediated signalling and early defects in lymphoid development.
abstract: OBJECTIVE
  The aim of the review is to report on recent advances in cytokine-mediated signalling, as illustrated by the study of natural human mutants. In particular, the role of cytokines and cytokine-mediated signalling in human T-cell development is analysed in detail, and currently available forms of treatment including experimental trials are described.
  
  
  RESULTS
  Defects of the cytokine/JAK/STAT axis have been recently described as responsible for human Severe Combined Immune Deficiency. In particular, defects in gammac, JAK3 and IL7RA have been analysed in terms of development of novel diagnostic tools as well as of new therapeutic agents for the treatment of autoimmune diseases and graft-versus-host disease.
  
  
  CONCLUSIONS
  Dissection of the genetic defects underlying the various forms of Severe Combined Immune Deficiency has helped develop new and more accurate diagnostic assays and novel forms of treatment.
authors.affiliation: Angelo Nocivelli Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Brescia, Italy. giliani@master.cci.unibs.it
authors.forename: Silvia
authors.initials: S
authors.lastname: Giliani
authors.forename: Patrizia
authors.initials: P
authors.lastname: Mella
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Savoldi
authors.forename: Evelina
authors.initials: E
authors.lastname: Mazzolari
mesh_terms: D016207:Cytokines / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D053631:Interleukin Receptor Common gamma Subunit; D053616:Janus Kinase 3; D011505:Protein-Tyrosine Kinases / Q000235:genetics / Q000378:metabolism; D020395:Receptors, Interleukin-7 / Q000378:metabolism; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D015398:Signal Transduction / Q000235:genetics*
chemical_list: D016207:Cytokines; C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit; D020395:Receptors, Interleukin-7; D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; D053616:Janus Kinase 3