Leiden University Scholarly Publications

Kreins, A.Y.; Dhalla, F.; Flinn, A.M.; Howley, E.; Ekwall, O.; Villa, A.; ... ; European Soc Immunodeficiencies Clinical Working Party (2024)

European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia

Article / Letter to editor

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...Show more 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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Congenital athymia

thymus transplantation

22q11.2 deletion syndrome

DiGeorge syndrome

immunology guidelines

All authors

Kreins, A.Y.; Dhalla, F.; Flinn, A.M.; Howley, E.; Ekwall, O.; Villa, A.; Staal, F.J.T.; Anderson, G.; Gennery, A.R.; Holländer, G.A.; Davies, E.G.; European Soc Immunodeficiencies Clinical Working Party

Date

2024-12-31

Journal

Journal of Allergy and Clinical Immunology

Volume

154

Issue

6

Pages

1391 - 1408

DOI

doi:10.1016/j.jaci.2024.07.031

Link

https://www.sciencedirect.com/science/article/pii/S0091674924009801?via%...