title: Molecular evidence for a thymus-independent partial T cell development in a FOXN1-/- athymic human fetus.
abstract: The thymus is the primary organ able to support T cell ontogeny, abrogated in FOXN1(-/-) human athymia. Although evidence indicates that in animal models T lymphocytes may differentiate at extrathymic sites, whether this process is really thymus-independent has still to be clarified. In an athymic FOXN1(-/-) fetus, in which we previously described a total blockage of CD4(+) and partial blockage of CD8(+) cell development, we investigated whether intestine could play a role as extrathymic site of T-lymphopoiesis in humans. We document the presence of few extrathymically developed T lymphocytes and the presence in the intestine of CD3(+) and CD8(+), but not of CD4(+) cells, a few of them exhibiting a CD45RA(+) naïve phenotype. The expression of CD3εεpTα, RAG1 and RAG2 transcripts in the intestine and TCR gene rearrangement was also documented, thus indicating that in humans the partial T cell ontogeny occurring at extrathymic sites is a thymus- and FOXN1-independent process.
authors.affiliation: Department of Translational Medical Sciences, Pediatric Section, "Federico II" University, Naples, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Fusco
authors.affiliation: Unit of Pathology, National Relevance Hospital "S.G. Moscati", Avellino, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Panico
authors.affiliation: Department of Biochemistry and Medical Biotechnology-CEINGE, "Federico II" University, Naples, Italy.
authors.forename: Marisa
authors.initials: M
authors.lastname: Gorrese
authors.affiliation: Molecular Oncology Unit, IRCCS, "Centro di Riferimento Oncologico della Basilicata", Rionero in Vulture, Pz, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Bianchino
authors.affiliation: Department of Translational Medical Sciences, Pediatric Section, "Federico II" University, Naples, Italy.
authors.forename: Maria V
authors.initials: MV
authors.lastname: Barone
authors.affiliation: Molecular Oncology Unit, IRCCS, "Centro di Riferimento Oncologico della Basilicata", Rionero in Vulture, Pz, Italy.
authors.forename: Vitina
authors.initials: V
authors.lastname: Grieco
authors.affiliation: Department of Cellular and Molecular Biology and Pathology, "Federico II" University, Naples, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Vitiello
authors.affiliation: Department of Translational Medical Sciences, Pediatric Section, "Federico II" University, Naples, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: D'Assante
authors.affiliation: Department of Translational Medical Sciences, Pediatric Section, "Federico II" University, Naples, Italy.
authors.forename: Rosa
authors.initials: R
authors.lastname: Romano
authors.affiliation: Department of Translational Medical Sciences, Pediatric Section, "Federico II" University, Naples, Italy.
authors.forename: Loredana
authors.initials: L
authors.lastname: Palamaro
authors.affiliation: Department of Biochemistry and Medical Biotechnology-CEINGE, "Federico II" University, Naples, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Scalia
authors.affiliation: Department of Biochemistry and Medical Biotechnology-CEINGE, "Federico II" University, Naples, Italy.
authors.forename: Luigi Del
authors.initials: LD
authors.lastname: Vecchio
authors.affiliation: Department of Translational Medical Sciences, Pediatric Section, "Federico II" University, Naples, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Pignata
mesh_terms: D015703:Antigens, CD / Q000235:genetics / Q000276:immunology; D017252:CD3 Complex / Q000235:genetics / Q000276:immunology; D015704:CD4 Antigens / Q000235:genetics / Q000276:immunology; D049109:Cell Proliferation; D004268:DNA-Binding Proteins / Q000235:genetics / Q000276:immunology; D005333:Fetus; D051858:Forkhead Transcription Factors / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D015870:Gene Expression; D020868:Gene Silencing; D018398:Homeodomain Proteins / Q000235:genetics / Q000276:immunology; D006801:Humans; D016130:Immunophenotyping; D007422:Intestines / Q000166:cytology* / Q000276:immunology; D017493:Leukocyte Common Antigens / Q000235:genetics / Q000276:immunology; D009687:Nuclear Proteins / Q000235:genetics / Q000276:immunology; D012333:RNA, Messenger / Q000235:genetics / Q000276:immunology; D016176:T-Lymphocyte Subsets / Q000276:immunology / Q000473:pathology*; D013950:Thymus Gland / Q000002:abnormalities / Q000276:immunology / Q000473:pathology*
chemical_list: D015703:Antigens, CD; D017252:CD3 Complex; D015704:CD4 Antigens; D004268:DNA-Binding Proteins; D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; D012333:RNA, Messenger; C090140:Whn protein; C064658:RAG-1 protein; D017493:Leukocyte Common Antigens; C516769:PTPRC protein, human