title: Clinical and mutational features of X-linked agammaglobulinemia in Mexico.
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.
authors.affiliation: Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, SSA, México, DF, Mexico.
authors.forename: E
authors.initials: E
authors.lastname: García-García
authors.affiliation: Departamento Inmunología Clínica, Centro Médico Nacional del Noreste, Unidad de alta especialidad IMSS 25, Monterrey, NL, Mexico.
authors.forename: A T
authors.initials: AT
authors.lastname: Staines-Boone
authors.affiliation: Biomedicina Molecular, Centro de Investigación y de Estudios Avanzados, México, DF, Mexico.
authors.forename: A
authors.initials: A
authors.lastname: Vargas-Hernández
authors.affiliation: Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, SSA, México, DF, Mexico.
authors.forename: M E
authors.initials: ME
authors.lastname: González-Serrano
authors.affiliation: Programa en Ciencias Genómicas, Universidad Autónoma de la Ciudad de México, México, DF, Mexico.
authors.forename: E
authors.initials: E
authors.lastname: Carrillo-Tapia
authors.affiliation: Departamento de Alergia e Inmunologia Clinica, Centro Medico Nacional "La Raza", IMSS, México, DF, Mexico.
authors.forename: D
authors.initials: D
authors.lastname: Mogica-Martínez
authors.affiliation: Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, SSA, México, DF, Mexico.
authors.forename: L
authors.initials: L
authors.lastname: Berrón-Ruíz
authors.affiliation: Servicio de alergia e inmunologia clinica, Hospital de Especialidades, Centro Médico Nacional Siglo XXI, IMSS, México, DF, Mexico.
authors.forename: N H
authors.initials: NH
authors.lastname: Segura-Mendez
authors.affiliation: Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, SSA, México, DF, Mexico.
authors.forename: F J
authors.initials: FJ
authors.lastname: Espinosa-Rosales
authors.affiliation: Servicio de Inmunología, Instituto Nacional de Pediatría, SSA, México, DF, Mexico.
authors.forename: M A
authors.initials: MA
authors.lastname: Yamazaki-Nakashimada
authors.affiliation: Biomedicina Molecular, Centro de Investigación y de Estudios Avanzados, México, DF, Mexico.
authors.forename: L
authors.initials: L
authors.lastname: Santos-Argumedo
authors.affiliation: Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, SSA, México, DF, Mexico.
authors.forename: G
authors.initials: G
authors.lastname: López-Herrera
mesh_terms: D000361:Agammaglobulinemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D001168:Arthritis / Q000150:complications; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood / Q000235:genetics; D007074:Immunoglobulin G / Q000097:blood / Q000235:genetics; D007075:Immunoglobulin M / Q000097:blood / Q000235:genetics; D008800:Mexico; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M
keywords: Btk; Missense mutations; Splice site; X-linked agammaglobulinemia