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Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility.

Autor: Khoreva A; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Butov KR; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.; Center for Theoretical Problems of Physicochemical Pharmacology, Moscow, Russia., Nikolaeva EI; Center for Theoretical Problems of Physicochemical Pharmacology, Moscow, Russia., Martyanov A; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.; Center for Theoretical Problems of Physicochemical Pharmacology, Moscow, Russia., Kulakovskaya E; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Pershin D; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Alexenko M; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Kurnikova M; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Abasov R; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Raykina E; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Abramov D; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Arnaudova K; Astrakhan State Medical University, Astrakhan, Russia., Rodina Y; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Trubina N; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Skvortsova Y; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Balashov D; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Sveshnikova A; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.; Center for Theoretical Problems of Physicochemical Pharmacology, Moscow, Russia., Maschan A; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Novichkova G; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Panteleev M; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.; Center for Theoretical Problems of Physicochemical Pharmacology, Moscow, Russia.; Faculty of Physics, Lomonosov Moscow State University, Moscow, Russia., Shcherbina A; Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.

Publikováno v: The journal of allergy and clinical immunology. Global [J Allergy Clin Immunol Glob] 2023 Sep 27; Vol. 3 (1), pp. 100172. Date of Electronic Publication: 2023 Sep 27 (Print Publication: 2024).