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FOXN1 mutation abrogates prenatal T-cell development in humans
by
Vitiello, L
, Del Vecchio, L
, Pignata, C
, Ursini, M V
, Fusco, A
, Vigliano, I
, Panico, L
, Calcagno, G
, Gorrese, M
, Amorosi, S
, Racioppi, L
in
CD4 Antigens - genetics
/ CD4 Antigens - immunology
/ CD8 Antigens - genetics
/ CD8 Antigens - immunology
/ Cell Differentiation - genetics
/ Cell Differentiation - immunology
/ Clinical genetics
/ Clinical genetics, Immunology (including allergy)
/ Female
/ Fetal Diseases - genetics
/ Fetal Diseases - immunology
/ Fetus - embryology
/ Fetus - immunology
/ Fetus - physiopathology
/ Fetuses
/ Forkhead Transcription Factors - genetics
/ FOXN1
/ Genetic Counseling
/ Gestational age
/ Humans
/ Immune system
/ Immunology (including allergy)
/ Lymphatic system
/ Lymphocyte Count
/ Lymphocytes
/ Lymphopoiesis - genetics
/ Lymphopoiesis - immunology
/ Mutation
/ Mutation - immunology
/ Phenotypes
/ Pregnancy
/ Prenatal Diagnosis
/ Proteins
/ Receptors, Antigen, T-Cell, gamma-delta - genetics
/ Receptors, Antigen, T-Cell, gamma-delta - immunology
/ Severe combined immunodeficiency
/ Severe Combined Immunodeficiency - embryology
/ Severe Combined Immunodeficiency - genetics
/ Severe Combined Immunodeficiency - immunology
/ T cell receptors
/ T-cell development
/ T-Lymphocytes - cytology
/ T-Lymphocytes - immunology
/ Thymus gland
/ Thymus Gland - cytology
/ Thymus Gland - embryology
/ Thymus Gland - immunology
2011
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FOXN1 mutation abrogates prenatal T-cell development in humans
by
Vitiello, L
, Del Vecchio, L
, Pignata, C
, Ursini, M V
, Fusco, A
, Vigliano, I
, Panico, L
, Calcagno, G
, Gorrese, M
, Amorosi, S
, Racioppi, L
in
CD4 Antigens - genetics
/ CD4 Antigens - immunology
/ CD8 Antigens - genetics
/ CD8 Antigens - immunology
/ Cell Differentiation - genetics
/ Cell Differentiation - immunology
/ Clinical genetics
/ Clinical genetics, Immunology (including allergy)
/ Female
/ Fetal Diseases - genetics
/ Fetal Diseases - immunology
/ Fetus - embryology
/ Fetus - immunology
/ Fetus - physiopathology
/ Fetuses
/ Forkhead Transcription Factors - genetics
/ FOXN1
/ Genetic Counseling
/ Gestational age
/ Humans
/ Immune system
/ Immunology (including allergy)
/ Lymphatic system
/ Lymphocyte Count
/ Lymphocytes
/ Lymphopoiesis - genetics
/ Lymphopoiesis - immunology
/ Mutation
/ Mutation - immunology
/ Phenotypes
/ Pregnancy
/ Prenatal Diagnosis
/ Proteins
/ Receptors, Antigen, T-Cell, gamma-delta - genetics
/ Receptors, Antigen, T-Cell, gamma-delta - immunology
/ Severe combined immunodeficiency
/ Severe Combined Immunodeficiency - embryology
/ Severe Combined Immunodeficiency - genetics
/ Severe Combined Immunodeficiency - immunology
/ T cell receptors
/ T-cell development
/ T-Lymphocytes - cytology
/ T-Lymphocytes - immunology
/ Thymus gland
/ Thymus Gland - cytology
/ Thymus Gland - embryology
/ Thymus Gland - immunology
2011
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FOXN1 mutation abrogates prenatal T-cell development in humans
by
Vitiello, L
, Del Vecchio, L
, Pignata, C
, Ursini, M V
, Fusco, A
, Vigliano, I
, Panico, L
, Calcagno, G
, Gorrese, M
, Amorosi, S
, Racioppi, L
in
CD4 Antigens - genetics
/ CD4 Antigens - immunology
/ CD8 Antigens - genetics
/ CD8 Antigens - immunology
/ Cell Differentiation - genetics
/ Cell Differentiation - immunology
/ Clinical genetics
/ Clinical genetics, Immunology (including allergy)
/ Female
/ Fetal Diseases - genetics
/ Fetal Diseases - immunology
/ Fetus - embryology
/ Fetus - immunology
/ Fetus - physiopathology
/ Fetuses
/ Forkhead Transcription Factors - genetics
/ FOXN1
/ Genetic Counseling
/ Gestational age
/ Humans
/ Immune system
/ Immunology (including allergy)
/ Lymphatic system
/ Lymphocyte Count
/ Lymphocytes
/ Lymphopoiesis - genetics
/ Lymphopoiesis - immunology
/ Mutation
/ Mutation - immunology
/ Phenotypes
/ Pregnancy
/ Prenatal Diagnosis
/ Proteins
/ Receptors, Antigen, T-Cell, gamma-delta - genetics
/ Receptors, Antigen, T-Cell, gamma-delta - immunology
/ Severe combined immunodeficiency
/ Severe Combined Immunodeficiency - embryology
/ Severe Combined Immunodeficiency - genetics
/ Severe Combined Immunodeficiency - immunology
/ T cell receptors
/ T-cell development
/ T-Lymphocytes - cytology
/ T-Lymphocytes - immunology
/ Thymus gland
/ Thymus Gland - cytology
/ Thymus Gland - embryology
/ Thymus Gland - immunology
2011
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FOXN1 mutation abrogates prenatal T-cell development in humans
Journal Article
FOXN1 mutation abrogates prenatal T-cell development in humans
2011
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Overview
BackgroundThe transcription factor FOXN1 is implicated in the differentiation of thymic and skin epithelial cells, and alterations in it are responsible for the Nude/SCID phenotype. During a genetic counselling programme offered to couples at risk in a community where a high frequency of mutated FOXN1 had been documented, the identification of a human FOXN1−/− fetus gave the unique opportunity to study T cell development in utero.ResultsTotal blockage of CD4+ T cell maturation and severe impairment of CD8+ cells were documented. Evaluation of the variable-domain β-chain (Vβ) families' usage among T lymphocytes revealed that the generation of T cell receptor (TCR) diversity occurred to some extent in the FOXN1−/− fetus, although it was impaired compared with the control. A few non-functional CD8+ cells, mostly bearing TCRγδ in the absence of CD3, were found.DiscussionFOXN1 is crucial for in utero T cell development in humans. The identification of a limited number of CD8+ cells suggests an extrathymic origin for these cells, implying FOXN1-independent lymphopoiesis.
Publisher
BMJ Publishing Group Ltd,BMJ Publishing Group LTD,BMJ Publishing Group
Subject
/ Cell Differentiation - genetics
/ Cell Differentiation - immunology
/ Clinical genetics, Immunology (including allergy)
/ Female
/ Fetuses
/ Forkhead Transcription Factors - genetics
/ FOXN1
/ Humans
/ Immunology (including allergy)
/ Mutation
/ Proteins
/ Receptors, Antigen, T-Cell, gamma-delta - genetics
/ Receptors, Antigen, T-Cell, gamma-delta - immunology
/ Severe combined immunodeficiency
/ Severe Combined Immunodeficiency - embryology
/ Severe Combined Immunodeficiency - genetics
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