1. Clinical and mutational features of X-linked agammaglobulinemia in Mexico.
- Author
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García-García E, Staines-Boone AT, Vargas-Hernández A, González-Serrano ME, Carrillo-Tapia E, Mogica-Martínez D, Berrón-Ruíz L, Segura-Mendez NH, Espinosa-Rosales FJ, Yamazaki-Nakashimada MA, Santos-Argumedo L, and López-Herrera G
- Subjects
- Agammaglobulinemia complications, Agammaglobulinemia diagnosis, Arthritis complications, Genetic Diseases, X-Linked complications, Genetic Diseases, X-Linked diagnosis, Humans, Immunoglobulin A blood, Immunoglobulin A genetics, Immunoglobulin G blood, Immunoglobulin G genetics, Immunoglobulin M blood, Immunoglobulin M genetics, Mexico, Agammaglobulinemia genetics, Agammaglobulinemia pathology, Genetic Diseases, X-Linked genetics, Genetic Diseases, X-Linked pathology, Mutation, Missense genetics
- Abstract
X-linked agammaglobulinemia (XLA) is caused by BTK mutations, patients typically show <2% of peripheral B cells and reduced levels of all immunoglobulins; they suffer from recurrent infections of bacterial origin; however, viral infections, autoimmune-like diseases, and an increased risk of developing gastric cancer are also reported. In this work, we report the BTK mutations and clinical features of 12 patients diagnosed with XLA. Furthermore, a clinical revision is also presented for an additional cohort of previously reported patients with XLA. Four novel mutations were identified, one of these located in the previously reported mutation refractory SH3 domain. Clinical data support previous reports accounting for frequent respiratory, gastrointestinal tract infections and other symptoms such as the occurrence of reactive arthritis in 19.2% of the patients. An equal proportion of patients developed septic arthritis; missense mutations and mutations in SH1, SH2 and PH domains predominated in patients who developed arthritis., (Copyright © 2016 Elsevier Inc. All rights reserved.)
- Published
- 2016
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