Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia [PDF]
BackgroundBruton’s tyrosine kinase (BTK) is a cytoplasmic protein involved in the B cell development. X-linked agammaglobulinemia (XLA) is caused by mutation in the BTK gene, which results in very low or absent B cells.
Chai Teng Chear +17 more
doaj +2 more sources
Hematopoietic stem cell gene therapy for the treatment of X-linked agammaglobulinemia [PDF]
X-linked agammaglobulinemia (XLA) is a rare inborn error of immunity caused by loss-of-function mutations in the gene encoding Bruton’s tyrosine kinase (BTK).
Christopher R. Luthers +8 more
doaj +2 more sources
Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia [PDF]
Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood.
V.D. Ramalho +4 more
doaj +4 more sources
Astrovirus Encephalitis in Boy with X-linked Agammaglobulinemia
Encephalitis is a major cause of death worldwide. Although >100 pathogens have been identified as causative agents, the pathogen is not determined for up to 75% of cases.
Phenix-Lan Quan +15 more
doaj +5 more sources
X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world
Background: X-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications.
Zeinab A. El-Sayed +50 more
doaj +3 more sources
Citation: 'X-linked agammaglobulinemia' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.13787 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Lackey AE, Ahmad F.
europepmc +2 more sources
IgA nephropathy in a child with X-linked agammaglobulinemia: a case report [PDF]
Background X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the Bruton tyrosine kinase (BTK) gene. Individuals diagnosed with XLA are at an increased risk of developing autoimmune diseases.
Yuanjin Song +4 more
doaj +2 more sources
Neutropenia Associated with X-Linked Agammaglobulinemia
X-linked Agammaglobulinemia (XLA) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced B lymphocytes number.
Aghamohammadi Asghar +9 more
doaj +1 more source
Tubulointerstitial nephritis complicating IVIG therapy for X-linked agammaglobulinemia [PDF]
BACKGROUND: Patients with X-linked agammaglobulinemia (XLA) develop immune-complex induced diseases such as nephropathy only rarely, presumably because their immunoglobulin (Ig) G concentration is low.
Akane Izu +7 more
core +5 more sources
Clinical case of primary immunodeficiency: X-linked agammaglobulinemia
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 ...
E. V. Kuvschinova +4 more
doaj +1 more source

