Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion

Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a primary immunodeficiency characterized by a broad and heterogeneous clinical presentation associated with various degrees of T-cell deficiency. We report the clinical, immunologic, and genetic findings of a cohort of eight patients presenting wit...

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Bibliographic Details
Main Authors: Antonino Maria Quintilio Alberio, Annalisa Legitimo, Veronica Bertini, Giampiero I. Baroncelli, Giorgio Costagliola, Angelo Valetto, Rita Consolini
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Journal of Clinical Medicine
Subjects:
DiGeorge syndrome
22q11.2 deletion
thymic output
dendritic cells
immunodeficiency
autoimmunity
Online Access:https://www.mdpi.com/2077-0383/11/7/2025

Internet

https://www.mdpi.com/2077-0383/11/7/2025

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