Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.

doi:10.1080/1744666X.2018.1413349

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Article

Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.

Expert review of clinical immunology - 1 Jan 2018

Carrillo-Tapia Eduardo, García-García Elizabeth, Herrera-González Norma Estela, Yamazaki-Nakashimada Marco Antonio, Staines-Boone Aidee Tamara, Segura-Mendez Nora Hilda, Scheffler-Mendoza Selma Cecilia, O Farrill-Romanillos Patricia, Gonzalez-Serrano Maria E, Rodriguez-Alba Juan Carloa, Santos-Argumedo Leopoldo, Berron-Ruiz Laura, Sanchez-Flores Alejandro, López-Herrera Gabriela

Abstract excerpt

BACKGROUND: X-linked agammaglobulinemia (XLA) is characterized by the absence of immunoglobulin and B cells. Patients suffer from recurrent bacterial infections from early childhood, and require lifelong immunoglobulin replacement therapy. Mutations in BTK (Bruton's Tyrosine Kinase) are associated with this phenotype. Some patients that present XLA do not show typical clinical symptoms, resulting in delayed...

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PMID: 29202590
DOI: 10.1080/1744666X.2018.1413349

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