Showing 1 - 20 results of 136 for search '"X-linked agammaglobulinemia"', query time: 0.25s Refine Results
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    Neutropenia Associated with X-Linked Agammaglobulinemia by Aghamohammadi Asghar, Cheraghi Taher, Rezaei Nima, Kanegane Hirokazu, Abdollahzede Sina, Talaei-Khoei Mojtaba, Heidari Golnaz, Zandieh Fariborz, Moin Mostafa, Miyawaki Toshio

    Published 2009-03-01
    “…X-linked Agammaglobulinemia (XLA) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced B lymphocytes number. …”
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    Clinical case of primary immunodeficiency: X-linked agammaglobulinemia by E. V. Kuvschinova, L. M. Kurtasova, A. G. Borisov, A. R. Schmidt, T. A. Gerasimova

    Published 2020-04-01
    “…Aclinical case ofprimary immunodeficiency state (PIDS) is described: X-linked agammaglobulinemia in the boy of 8 years old. The results of molecular genetic studies: gene btk (ex 1-19) genome version GRCh38.p5, transcript version ENST00000308731 single nucleotide substitution identified с.1027С > Т in homozygous state leading to premature stop codon p.Gln343Ter (p.Q343*). …”
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    Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia by Amanpreet Kalkat, Olivia Humpel, Robert Hostoffer

    Published 2023-01-01
    “…X-linked agammaglobulinemia (XLA) is a genetic disorder with mutation in Bruton’s tyrosine kinase (BTK). …”
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    X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature by Krishnaswamy Guha, Kasasbeh Ehab, Sigmon Justin R

    Published 2008-06-01
    “…<p>Abstract</p> <p>Background</p> <p>Common variable immune deficiency (CVID), one of the most common primary immunodeficiency diseases presents in adults, whereas X-linked agammaglobulinemia (XLA), an inherited humoral immunodeficiency, is usually diagnosed early in life after maternal Igs have waned. …”
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    Identification of a novel BTK variant in a Chinese family with X-linked agammaglobulinemia by ZHANG Han, SUN Yang, WANG Rong-rong, ZHANG Wen, ZHANG Xue

    Published 2021-04-01
    Subjects: “…x-linked agammaglobulinemia|whole exome sequencing|btk|pathogenic variant…”
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