Haematopoietic Stem Cell Transplant for Norovirus-Induced Intestinal Failure in X-linked Agammaglobulinemia. [PDF]
J Clin Immunol, 2021 Since the first clinical description in 1952, immunoglobulin replacement therapy remains the mainstay of treatment of patients with X-linked agammaglobulinemia (XLA). However, this therapy only replaces IgG isotype and does not compensate for the loss of
Shillitoe BMJ +8 more
europepmc +2 more sources
BTKbase, mutation database for X-linked agammaglobulinemia (XLA) [PDF]
Nucleic Acids Research, 1997 X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 463 mutation entries from 406 unrelated families showing 303 unique molecular events.
Mauno Vihinen +13 more
openalex +9 more sources
X-linked Agammaglobulinemia Presenting with Multiviral Pneumonia. [PDF]
Cureus, 2020 X-linked agammaglobulinemia (XLA) is a primary humoral immunodeficiency characterized by severe hypogammaglobulinemia and increased risk of infection. The genetic condition results from a mutation in the Bruton tyrosine kinase (BTK) gene located on the X chromosome leading to a near absence of B cells.
Arroyo-Martinez YM, Saindon M, Raina JS.
europepmc +4 more sources
PROTECTIVE LEVELS OF VARICELLA-ZOSTER ANTIBODY DID NOT EFFECTIVELY PREVENT CHICKENPOX IN AN X-LINKED AGAMMAGLOBULINEMIA PATIENT [PDF]
Revista do Instituto de Medicina Tropical de São Paulo, 2015 SUMMARY We describe the case of an eight-year-old boy with X-linked agammaglobulinemia who developed mild varicella despite regular intravenous immunoglobulin (IVIG) therapy.
Fernanda Aimée NOBRE +3 more
doaj +2 more sources
X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature [PDF]
Frontiers in Pediatrics, 2021 X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency caused by mutations in the Bruton Tyrosine Kinase (BTK) gene. Marked neutropenia can be the initial abnormal laboratory finding in patients with XLA who are presenting with their first ...
Mosopefoluwa Lanlokun +6 more
doaj +2 more sources
Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India [PDF]
Frontiers in Immunology, 2021 BackgroundThere is paucity of literature on XLA from developing countries. Herein we report the clinical and molecular profile and outcome in a multicenter cohort of patients with XLA from India.MethodsData on XLA from all regional centers supported by ...
Amit Rawat +41 more
doaj +2 more sources
Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia [PDF]
Brazilian Journal of Medical and Biological Research, 2010 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 +2 more sources
Clinical and Genetic Study of X-linked Agammaglobulinemia Patients (The Benefit of Early Diagnosis)
Iranian Journal of Allergy, Asthma and Immunology, 2020 X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by genetic defects in the Bruton tyrosine kinase (Btk) gene. XLA is characterized as an antibody deficiency by recurrent bacterial infections, the absence of peripheral B cells, and ...
Zahra Alizadeh +9 more
doaj +2 more sources
Longitudinal study of a SARS-CoV-2 infection in an immunocompromised patient with X-linked agammaglobulinemia [PDF]
J Infect, 2021 Ciuffreda L +13 more
europepmc +3 more sources
X-Linked Agammaglobulinemia with Kawasaki Disease [PDF]
Indian Journal of Pediatrics, 2022 Sakshi Shakya +5 more
openalex +3 more sources