Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Vásquez-Echeverri Estefanía, Yamazaki-Nakashimada Marco Antonio, Venegas Montoya Edna, Scheffler Mendoza Selma Cecilia, Castano-Jaramillo Lina Maria, Medina-Torres Edgar Alejandro, González-Serrano Maria Edith, Espinosa-Navarro Melissa, Bustamante Ogando Juan Carlos, González-Villarreal María Guadalupe, Ortega Cisneros Margarita, Valencia Mayoral Pedro Francisco, Consuelo Sanchez Alejandra, Varela-Fascinetto Gustavo, Ramírez-Uribe Rosa María Nideshda, Salazar Gálvez Yuridia, Bonifaz Alonzo Laura Cecilia, Fuentes-Pananá Ezequiel Moisés, Gómez Hernández Noemí, Rojas Maruri César Mauricio, Casanova Jean-Laurent, Espinosa-Padilla Sara Elva, Staines Boone Aidé Tamara, López-Velázquez Gabriel, Boisson Bertrand, Lugo Reyes Saul Oswaldo
Аннотация
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.
RESULTS: Six patients from four families were included. All had recurrent infections, mainly bacterial pneumonia, and cellulitis. A total of 67% had eczema whereas 50% had food allergies, failure to thrive, hepatomegaly, and bleeding. Eosinophilia was found in all; 84% had thrombocytopenia, 67% had abnormal-size platelets and anemia. Serum levels of IgG, IgA, and IgE were highly increased in most; IgM was normal or low. T cells were decreased in 67% of patients, whereas B and NK cells were increased in half of patients. Two of the four probands had compound heterozygous variants. One patient was successfully transplanted. We identified 28 other patients whose most prevalent features were eczema, recurrent infections, failure to thrive, bleeding, diarrhea, allergies, vasculitis, eosinophilia, platelet abnormalities, high IgE/IgA, low T cells, and high B cells.
CONCLUSION: Actin-related protein 2/3 complex subunit 1B deficiency has a variable and heterogeneous clinical spectrum, expanded by these cases to include keloid scars and Epstein-Barr virus chronic hepatitis. A novel deletion in exon 8 was shared by three unrelated families and might be the result of a founder effect.