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European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia
AY. Kreins, F. Dhalla, AM. Flinn, E. Howley, O. Ekwall, A. Villa, FJT. Staal, G. Anderson, AR. Gennery, GA. Holländer, EG. Davies, European Society for Immunodeficiencies Clinical Working Party
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, přehledy, směrnice pro lékařskou praxi
- MeSH
- lidé MeSH
- management nemoci MeSH
- novorozenec MeSH
- syndromy imunologické nedostatečnosti * terapie diagnóza imunologie MeSH
- thymus imunologie MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- směrnice pro lékařskou praxi MeSH
- Geografické názvy
- Evropa MeSH
Congenital athymia is a life-limiting disorder due to rare inborn errors of immunity causing impaired thymus organogenesis or abnormal thymic stromal cell development and function. Athymic infants have a T-lymphocyte-negative, B-lymphocyte-positive, natural killer cell-positive immunophenotype with profound T-lymphocyte deficiency and are susceptible to severe infections and autoimmunity. Patients variably display syndromic features. Expanding access to newborn screening for severe combined immunodeficiency and T lymphocytopenia and broad genetic testing, including next-generation sequencing technologies, increasingly facilitate their timely identification. The recommended first-line treatment is allogeneic thymus transplantation, which is a specialized procedure available in Europe and the United States. Outcomes for athymic patients are best with early diagnosis and thymus transplantation before the development of infectious and inflammatory complications. These guidelines on behalf of the European Society for Immunodeficiencies provide a comprehensive review for clinicians who manage patients with inborn thymic stromal cell defects; they offer clinical practice recommendations focused on the diagnosis, investigation, risk stratification, and management of congenital athymia with the aim of improving patient outcomes.
Department of Biosystems Science and Engineering ETH Zurich Basel Switzerland
Department of Immunology Leiden University Medical Center Leiden The Netherlands
Department of Paediatric Immunology Children's Health Ireland at Crumlin Crumlin Ireland
Istituto di Ricerca Genetica e Biomedica Consiglio Nazionale Delle Ricerche Milan Italy
San Raffaele Telethon Institute for Gene Therapy IRCCS San Raffaele Hospital Milan Italy
Citace poskytuje Crossref.org
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- $a Kreins, Alexandra Y $u Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Infection Immunity and Inflammation Research and Teaching Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom. Electronic address: a.kreins@ucl.ac.uk
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- $a Congenital athymia is a life-limiting disorder due to rare inborn errors of immunity causing impaired thymus organogenesis or abnormal thymic stromal cell development and function. Athymic infants have a T-lymphocyte-negative, B-lymphocyte-positive, natural killer cell-positive immunophenotype with profound T-lymphocyte deficiency and are susceptible to severe infections and autoimmunity. Patients variably display syndromic features. Expanding access to newborn screening for severe combined immunodeficiency and T lymphocytopenia and broad genetic testing, including next-generation sequencing technologies, increasingly facilitate their timely identification. The recommended first-line treatment is allogeneic thymus transplantation, which is a specialized procedure available in Europe and the United States. Outcomes for athymic patients are best with early diagnosis and thymus transplantation before the development of infectious and inflammatory complications. These guidelines on behalf of the European Society for Immunodeficiencies provide a comprehensive review for clinicians who manage patients with inborn thymic stromal cell defects; they offer clinical practice recommendations focused on the diagnosis, investigation, risk stratification, and management of congenital athymia with the aim of improving patient outcomes.
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- $a Dhalla, Fatima $u Department of Paediatrics and Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, United Kingdom; Department of Clinical Immunology, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
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