TY - DATA T1 - Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains PY - 2017/12/11 AU - Eduardo Carrillo-Tapia AU - Elizabeth García-García AU - Norma Estela Herrera-González AU - Marco Antonio Yamazaki-Nakashimada AU - Aidee Tamara Staines-Boone AU - Nora Hilda Segura-Mendez AU - Selma Cecilia Scheffler-Mendoza AU - Patricia O`Farrill-Romanillos AU - Maria E Gonzalez-Serrano AU - Juan Carloa Rodriguez-Alba AU - Leopoldo Santos-Argumedo AU - Laura Berron-Ruiz AU - Alejandro Sanchez-Flores AU - Gabriela López-Herrera UR - https://tandf.figshare.com/articles/journal_contribution/Delayed_diagnosis_in_X-linked_agammaglobulinemia_and_its_relationship_to_the_occurrence_of_mutations_in_BTK_non-kinase_domains/5687902 DO - 10.6084/m9.figshare.5687902 L4 - https://ndownloader.figshare.com/files/9957955 KW - Delayed X-linked agammaglobulinemia (XLA) KW - Bruton tyrosine kinase (BTK) KW - PH and SH2 domains KW - atypical phenotype N2 - 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 diagnosis due to the lack of a severe phenotype. This study presents a report of five XLA patients from four different families and attempts to determine a relationship between delayed diagnosis and the occurrence of BTK mutations. Methods: Samples from patients with antibody deficiency were analyzed to determine BTK expression, immunophenotyping and mutation analysis. Clinical and laboratory data was analyzed and presented for each patient. Results: Most patients presented here showed atypical clinical and laboratory data for XLA, including normal IgM, IgG, or IgA levels. Most patients expressed detectable BTK protein. Sequencing of BTK showed that these patients harbored missense mutations in the pleckstrin homology and Src-homology-2 domains. When it was compared to public databases, BTK sequencing exhibited a new change, along with three other previously reported changes. Conclusions: Delayed diagnosis and atypical manifestations in XLA might be related to mutation type and BTK expression. ER -