Results 11 to 20 of about 163,168 (216)

BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and Ahead. [PDF]

Hum Mutat, 2023
BTKbase is an international database for disease-causing variants in Bruton tyrosine kinase (BTK) leading to X-linked agammaglobulinemia (XLA), a rare primary immunodeficiency of antibody production.
Schaafsma GCP, Väliaho J, Wang Q, Berglöf A, Zain R, Smith CIE, Vihinen M.   +6 more
europepmc   +4 more sources

Cytomegalovirus Pneumonia in a Patient with X-Linked Agammaglobulinemia: A Case Report [PDF]

Medicina, 2022
X-linked agammaglobulinemia (XLA) is a hereditary immune disorder that predisposes patients to frequent and severe bacterial infections caused by encapsulated bacteria (such as Streptococcus pneumoniae, Staphylococcus aureus, and Haemophilus influenzae).
Yao-Xian Wong, Shyh-Dar Shyur
doaj   +3 more sources

Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia [PDF]

Case Reports in Immunology, 2023
X-linked agammaglobulinemia (XLA) is a genetic disorder with mutation in Bruton’s tyrosine kinase (BTK). Defects in B cell development and immunoglobulin production lead to recurrent infections following loss of maternal IgG at 6 months of age. A 55-year-
Amanpreet Kalkat, Olivia Humpel, Robert Hostoffer   +2 more
doaj   +4 more sources

IgA nephropathy in a child with X-linked agammaglobulinemia: a case report [PDF]

BMC Pediatrics
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, Lili Sun, Dongning Feng, Qing Sun, Yibing Wang   +4 more
doaj   +3 more sources

Astrovirus Encephalitis in Boy with X-linked Agammaglobulinemia [PDF]

Emerging Infectious Diseases, 2010
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, Thor A. Wagner, Thomas Briese, Troy R. Torgerson, Mady Hornig, Alla Tashmukhamedova, Cadhla Firth, Gustavo Palacios, Ada Baisre-De-Leon, Christopher D. Paddock, Stephen K. Hutchison, Michael Egholm, Sherif R. Zaki, James E. Goldman, Hans D. Ochs, W. Ian Lipkin   +15 more
doaj   +6 more sources

X-Linked Agammaglobulinemia [PDF]

Definitions, 2020
X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection.
Larry W. Moreland
semanticscholar   +4 more sources

Two X‐linked agammaglobulinemia patients develop pneumonia as COVID‐19 manifestation but recover

Pediatric Allergy and Immunology, 2020
The recent SARS‐CoV‐2 pandemic, which has recently affected Italy since February 21, constitutes a threat to normal subjects, as the coronavirus disease‐19 (COVID‐19) can manifest with a broad spectrum of clinical phenotypes ranging from asymptomatic ...
Ciro Paolillo, Emanuele Focà, Michela Bezzi   +2 more
exaly   +2 more sources

Chronic Diarrhea with Villous Blunting of the Small Intestine Under Capsule Endoscopy in Common Variable Immunodeficiency and X-Linked Agammaglobulinemia: A Case Series. [PDF]

J Asthma Allergy, 2023
Introduction Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders, common variable immunodeficiency disorder (CVID) and X-linked agammaglobulinemia (XLA) are PIDs related to B-cell defect, characterized by reduced levels of ...
Deng F, Wang H, Wang X.
europepmc   +2 more sources

The dilemma of X-linked agammaglobulinemia carriers [PDF]

Journal of Allergy and Clinical Immunology: Global
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Federica Pulvirenti, MD, PhD, Cinzia Milito, MD, PhD, Francesco Cinetto, MD, PhD, Giulia Garzi, MD, Germano Sardella, MD, Giuseppe Spadaro, MD, Francesca Lippi, MD, Valentina Guarnieri, MD, Bianca Laura Cinicola, MD, Maria Carrabba, MD, PhD, Daniele Guadagnolo, MD, Giovanna Fabio, MD, Baldassarre Martire, MD, Caterina Cancrini, MD, PhD, Giulia Lanzoni, MD, Andrea Finocchi, MD, PhD, Gigliola Di Matteo, MD, PhD, Eva Pompilii, MD, Simona Ferrari, BD, PhD, Isabella Quinti, MD, PhD   +19 more
doaj   +2 more sources

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience. [PDF]

World J Pediatr
Newborn screening (NBS) for severe combined immunodeficiency (SCID), X-linked agammaglobulinemia (XLA), and spinal muscular atrophy (SMA) enables early diagnosis and intervention, significantly improving patient outcomes. Advances in real-time polymerase
Chen C, Zhang C, Wu DW, Wang BY, Xiao R, Huang XL, Yang X, Gao ZG, Yang RL.   +8 more
europepmc   +2 more sources