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Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings. 2023

Narjes Saheb Sharif-Askari, and Shirin Hafezi, and Fatemeh Saheb Sharif-Askari, and Naomi Frommenwiler, and Rabih Halwani
Research Institute for Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D011505 Protein-Tyrosine Kinases Protein kinases that catalyze the PHOSPHORYLATION of TYROSINE residues in proteins with ATP or other nucleotides as phosphate donors. Tyrosine Protein Kinase,Tyrosine-Specific Protein Kinase,Protein-Tyrosine Kinase,Tyrosine Kinase,Tyrosine Protein Kinases,Tyrosine-Specific Protein Kinases,Tyrosylprotein Kinase,Kinase, Protein-Tyrosine,Kinase, Tyrosine,Kinase, Tyrosine Protein,Kinase, Tyrosine-Specific Protein,Kinase, Tyrosylprotein,Kinases, Protein-Tyrosine,Kinases, Tyrosine Protein,Kinases, Tyrosine-Specific Protein,Protein Kinase, Tyrosine-Specific,Protein Kinases, Tyrosine,Protein Kinases, Tyrosine-Specific,Protein Tyrosine Kinase,Protein Tyrosine Kinases,Tyrosine Specific Protein Kinase,Tyrosine Specific Protein Kinases
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000077329 Agammaglobulinaemia Tyrosine Kinase A non-receptor tyrosine kinase that is essential for the development, maturation, and signaling of B-LYMPHOCYTES. It contains an N-terminal zinc finger motif and localizes primarily to the PLASMA MEMBRANE and nucleus of B-lymphocytes. Mutations in the gene that encode this kinase are associated with X-LINKED AGAMMAGLOBULINEMIA. B Cell Progenitor Kinase,Bruton's Tyrosine Kinase,Bruton Tyrosine Kinase,Brutons Tyrosine Kinase,Kinase, Agammaglobulinaemia Tyrosine,Kinase, Bruton's Tyrosine,Tyrosine Kinase, Agammaglobulinaemia,Tyrosine Kinase, Bruton's
D000361 Agammaglobulinemia An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood. Hypogammaglobulinemia,Agammaglobulinemias,Hypogammaglobulinemias
D035781 Siblings Persons or animals having at least one parent in common. (American College Dictionary, 3d ed) Brothers,Sisters,Brother,Sibling,Sister
D040181 Genetic Diseases, X-Linked Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. X-Linked Genetic Diseases,Genetic Diseases, X-Chromosome Linked,Disease, X-Linked Genetic,Diseases, X-Linked Genetic,Genetic Disease, X-Linked,Genetic Diseases, X Chromosome Linked,Genetic Diseases, X Linked,X Linked Genetic Diseases,X-Linked Genetic Disease

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