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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Detalles Bibliográficos
Autores principales: Alberio, Antonino Maria Quintilio, Legitimo, Annalisa, Bertini, Veronica, Baroncelli, Giampiero I., Costagliola, Giorgio, Valetto, Angelo, Consolini, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8999496/
https://www.ncbi.nlm.nih.gov/pubmed/35407632
http://dx.doi.org/10.3390/jcm11072025

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