Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247

[...]TCR immunodeficiencies display a range of phenotypes and careful differential diagnosis is essential for appropriate therapy. [...]mild lymphopenia and functional revertant somatic mosaicism should not confound the fact that CD247 deficiency is a very severe condition that requires urgent trans...

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Published inJournal of allergy and clinical immunology Vol. 139; no. 1; pp. 347 - 349.e8
Main Authors Marin, Ana V., MSc, Jiménez-Reinoso, Anaïs, MSc, Briones, Alejandro C., MSc, Muñoz-Ruiz, Miguel, MSc, Aydogmus, Cigdem, MD, Pasick, Luke J., BSc, Couso, Jorge, MSc, Mazariegos, Marina S., MSc, Alvarez-Prado, Angel F., MSc, Blázquez-Moreno, Alfonso, MSc, Cipe, Funda E., MD, Haskologlu, Sule, MD, Dogu, Figen, MD, Morín, Matías, PhD, Moreno-Pelayo, Miguel A., PhD, García-Sánchez, Félix, PhD, Gil-Herrera, Juana, MD, PhD, Fernández-Malavé, Edgar, PhD, Reyburn, Hugh T., PhD, Ramiro, Almudena R., PhD, Ikinciogullari, Aydan, MD, Recio, Maria J., PhD, Regueiro, Jose R., PhD, Garcillán, Beatriz, PhD
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.01.2017
Elsevier Limited
Subjects
Allergy and Immunology
Cloning
Cytomegalovirus
Defects
Flow cytometry
Genetic counseling
Genotype & phenotype
Immunoglobulins
Infrared imaging systems
Lymphocytes
Mutation
Phosphorylation
Proteins
Signal transduction
T cell receptors
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Summary:[...]TCR immunodeficiencies display a range of phenotypes and careful differential diagnosis is essential for appropriate therapy. [...]mild lymphopenia and functional revertant somatic mosaicism should not confound the fact that CD247 deficiency is a very severe condition that requires urgent transplantation, but easy to diagnose by intracellular flow cytometry or by the surface TCR phenotype of obligate carriers.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2016.06.020