Estefanía Vásquez-Echeverri, Marco Antonio Yamazaki-Nakashimada, Edna Venegas Montoya, Selma Cecilia Scheffler Mendoza, Lina Maria Castano-Jaramillo, Edgar Alejandro Medina-Torres, Maria Edith González-Serrano, Melissa Espinosa-Navarro, Juan Carlos Bustamante Ogando, María Guadalupe González-Villarreal, Margarita Ortega Cisneros, Pedro Francisco Valencia Mayoral, Alejandra Consuelo Sanchez, Gustavo Varela-Fascinetto, Rosa María Nideshda Ramírez-Uribe, Yuridia Salazar Gálvez, Laura Cecilia Bonifaz Alonzo, Ezequiel Moisés Fuentes-Pananá, Noemí Gómez Hernández, César Mauricio Rojas Maruri, Jean-Laurent Casanova, Sara Elva Espinosa-Padilla, Aidé Tamara Staines Boone, Gabriel López-Velázquez, Bertrand Boisson, Saul Oswaldo Lugo Reyes
BACKGROUND: Hereditary actin-related protein 2/3 complex subunit 1B deficiency is characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy, asthma, skin vasculitis, colitis, arthritis, short stature, and lymphadenopathy. OBJECTIVE: We aimed to describe the clinical, laboratory, and genetic features of six patients from four Mexican families. METHODS: We performed exome sequencing in patients of four families with suspected actinopathy, collected their data from medical records, and reviewed the literature for reports of other patients with actin-related protein 2/3 complex subunit 1B deficiency...
January 25, 2023: Journal of Allergy and Clinical Immunology in Practice