Results 51 to 60 of about 5,617 (179)

A Child with X-Linked Agammaglobulinemia and Enthesitis-Related Arthritis [PDF]

, 2011
X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells.
Sukesh Sukumaran, Joseph A. Church, Bracha Shaham, Katherine Marzan   +3 more
core   +1 more source

A novel gene mutation, c.82delC (p.Arg28 Alafs5), in a Korean family with X-linked agammaglobulinemia [PDF]

Korean Journal of Pediatrics, 2016
X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from ...
Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun   +8 more
doaj   +1 more source

Haematopoietic Stem Cell Transplant for Norovirus-Induced Intestinal Failure in X-linked Agammaglobulinemia [PDF]

, 2021
\ua9 2021, The Author(s). Since the first clinical description in 1952, immunoglobulin replacement therapy remains the mainstay of treatment of patients with X-linked agammaglobulinemia (XLA).
Cosgrove M, Shillitoe BMJ, Ponsford M, Jolles S, Slatter MA, Doull I, Struik S, Gennery AR, Evans J   +8 more
core   +4 more sources

Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report

Immunity, Inflammation and Disease, 2023
Background X‐linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK).
Cindy Srinivasan, Afshin Shameli, Bruce Ritchie, Adil Adatia   +3 more
doaj   +1 more source

Update on Non‐Biological and RNA‐Based Therapeutics in Chronic Inflammatory Diseases: Precision Medicine Through Small Molecules: An EAACI Position Paper

Allergy, EarlyView.
ABSTRACT In the last decades, critical advancements in research technology and knowledge on disease mechanisms steered therapeutic approaches for chronic inflammatory diseases towards unprecedented target specificity. For allergic and chronic lung diseases, biologic drugs pioneered this goal, acquiring on the way—through the clinical use of monoclonal ...
F. Roth‐Walter, I. M. Adcock, C. Benito‐Villalvilla, R. Bianchini, L. Bjermer, G. Caramori, L. Cari, K. F. Chung, Z. Diamant, I. Eguiluz‐Gracia, E. F. Knol, M. Jesenak, F. Levi‐Schaffer, G. Nocentini, L. O'Mahony, O. Palomares, F. Redegeld, M. Sokolowska, B. Van Esch, M. Zurlo, C. Stellato   +20 more
wiley   +1 more source

Pharmacokinetic Model Based Sensitivity Analysis to Lower Recruitment Burden for Young Children Requiring Intravenous Immunoglobulin G Replacement

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 6, June 2026.
ABSTRACT To support a post‐marketing requirement for pharmacokinetic (PK)‐focused assessments in patients ages 2–16 years, a model‐informed drug development approach was used to overcome enrollment barriers in recruiting pediatric subjects with primary immune deficiency (PID) disorders under Age 6 in a Phase 4 pediatric study.
Todd Dumas, Shahram Mehr, Rebecca Avila, Amy Doman, Kaitlin Kestenberg, Isaac Melamed   +5 more
wiley   +1 more source

A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation. [PDF]

, 2008
X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton's tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia.
문지애, 김세규, 장준, 박병훈, 정지예, 박무석, 김영삼, 변민광, 손지영, 정문재   +9 more
core   +1 more source

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

Molecular Oncology, Volume 20, Issue 5, Page 1299-1322, May 2026.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta, Yang Song, Madeleine Ndahayo, Anirudh Saxena, Theresa Guo, Dylan Z. Kelley, Jessica Gore, Andrew Hennigan, Alexa Anderson, John C. Papadimitriou, Daria A. Gaykalova   +10 more
wiley   +1 more source

Pyoderma Gangrenosum in a Patient with X-Linked Agammaglobulinemia [PDF]

Annals of Dermatology, 2017
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations of B-cell tyrosine kinase (BTK) gene. It is characterized by decreased serum immunoglobulins levels and circulating mature B cells. This defect in humoral immunity leads to increased susceptibility to infection. Pyoderma gangrenosum (PG) is an uncommon,
Tan, Qi, Ren, Fa-liang, Wang, Hua
openaire   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source