Two novel mutations in ZAP70 gene that result in human immunodeficiency

•Two novel mutations in ZAP70 in a patient with an early-onset immunodeficiency are described.•Both mutations resulted in partial absence of ZAP-70 protein and were ineffective to promote TCR-dependent signals.•Our findings extend the genetic etiology and molecular characterization of ZAP-70 mutatio...

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Published inClinical immunology (Orlando, Fla.) Vol. 183; pp. 278 - 284
Main Authors Llamas-Guillén, Beatriz Adriana, Pastor, Nina, López-Herrera, Gabriela, González-Serrano, Maria Edith, Valenzuela-Vázquez, Lucero, Bravo-Adame, Maria Elena, Villanueva-Cabello, Tania Maria, Gaytán, Paul, Yañez, Jorge, Martinez-Duncker, Ivan, Ruiz-Fernández, Miguel, Veillette, André, Espinosa-Padilla, Sara Elva, Cruz-Munoz, Mario Ernesto
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.10.2017
Subjects
CD8-Positive T-Lymphocytes - immunology
Female
Humans
Immunologic Deficiency Syndromes - genetics
Infant
Mutation
Receptors, Antigen, T-Cell - immunology
ZAP-70 Protein-Tyrosine Kinase - genetics
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Summary:•Two novel mutations in ZAP70 in a patient with an early-onset immunodeficiency are described.•Both mutations resulted in partial absence of ZAP-70 protein and were ineffective to promote TCR-dependent signals.•Our findings extend the genetic etiology and molecular characterization of ZAP-70 mutations that lead to early onset immunodeficiency.
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ISSN:1521-6616
1521-7035
DOI:10.1016/j.clim.2017.09.005