1. European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia.
- Author
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Kreins AY, Dhalla F, Flinn AM, Howley E, Ekwall O, Villa A, Staal FJT, Anderson G, Gennery AR, Holländer GA, and Davies EG
- Abstract
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., Competing Interests: Disclosure statement A.Y.K. is supported by the Wellcome Trust (222096/Z/20/Z). F.D. is supported by an NIHR Academic Clinical Lectureship and an Academy for Medical Sciences Starter Grant. E.H. and E.G.D. are supported by a grant from the Great Ormond Street Hospital Children’s Charity. O.E.’s laboratory is supported by grants from the Swedish Research Council (2018-02752 and 2022-00781) and the Swedish state under an ALF agreement between the Swedish government and the county councils (ALFGBG-965795). A.V. is supported by a core grant from the Telethon Foundation. F.J.T.’s laboratory is supported in part by EU H2020 grant RECOMB (755170–(b)) and has received funding from the European UnionHorizon 2020 research and innovation program as well as from reNEW, the Novo Nordisk Foundation for Stem Cell Research (NNF21CC0073729). G.A. is supported by an MRC Programme Grant to GA (MR/T029765/a). and G.H. is supported by the Wellcome Trust (211944/Z/18/Z). Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)
- Published
- 2024
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