Results 71 to 80 of about 161,849 (206)

Late diagnosis of agammaglobulinemia in an 8-year-old boy

Pediatria i Medycyna Rodzinna, 2016
Chromosome X-linked Bruton agammaglobulinemia is classified as a primary immunodeficiency disorder. It is a genetic condition associated with a mutation in the BTK gene encoding tyrosine kinase.
Małgorzata Sopińska, Karolina Kapusta, Edyta Heropolitańska-Pliszka, Anna Jung, Bolesław Kalicki   +4 more
doaj   +1 more source

“You Can Rest Knowing That We Know What You Want”—Longitudinal Advance Care Planning Discussions With Young Adults Receiving Hematopoietic Stem Cell Transplantation

Psycho-Oncology, Volume 34, Issue 6, June 2025.
ABSTRACT Objective Young adults (YAs) undergoing hematopoietic stem cell transplantation (HSCT) often face significant transplant‐related morbidity and mortality. Advance care planning (ACP) discussions can provide YAs with the opportunity to address treatment goals and care preferences with their family members and healthcare team.
Anna Katharina Vokinger, Brian Pennarola, Paige Kube, Devon Ciampa, Gisela Michel, Jennifer Hendricks, Brigit Rweikiza, Sara K. Silbert, Lori Wiener   +8 more
wiley   +1 more source

X-Linked Agammaglobulinemia A Clinical and Molecular Analysis

Medicine, 1996
X-linked agammaglobulinemia (XLA), characterized by a profound deficiency of B lymphocytes due to an arrest in B lymphocyte development, is caused by mutations in the gene encoding Btk (Bruton tyrosine kinase). The BTK gene has been cloned and the genomic organization determined.
Hans D. Ochs, C. I. E. Smith
openaire   +3 more sources

Use of Dynamic Contrast‐Enhanced Magnetic Resonance Imaging Combined With Serum Carcinoembryonic Antigen and Carbohydrate Antigen 19‐9 in Predicting Colorectal Cancer Liver Metastasis

Journal of Clinical Ultrasound, Volume 53, Issue 4, Page 612-619, May 2025.
The study subjects were mainly CRC patients (n = 120), all of whom underwent the same comprehensive treatment regimen and were divided into the effective treatment group (n = 86) and the ineffective treatment group (n = 34) according to efficacy after treatment.
Hong‐Bo Ji, Bo Qian, Jian‐Jun Hu, Wei Qi, Zi‐Gang Che   +4 more
wiley   +1 more source

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme

Pediatric Allergy and Immunology, Volume 36, Issue 5, May 2025.
Abstract Background Severe combined immunodeficiency (SCID) is a fatal but treatable inborn error of immunity (IEI). Newborn screening (NBS) using T‐cell receptor excision circles (TREC) has been adopted globally, with very few countries incorporating kappa recombination excision circles (KREC) to also detect early B‐cell development disorders, such as
Markéta Bloomfield, Eva Hlaváčková, Helena Schneiderová, Marek Turnovec, Lukáš Tichý, Zbyněk Čech, Petr Chrastina, Lenka Dvořáková, Karolína Pešková, Renata Formánková, Petr Říha, Marcela Vlková, Petr Bejdák, Magdaléna Havlišová, Eva Froňková, Tomáš Kalina, Viktor Bíly, Dita Říčná, Hana Grombiříková, Petr Sedláček, Jiří Litzman, Tomáš Freiberger, Anna Šedivá, Adam Klocperk   +23 more
wiley   +1 more source

X-linked agammaglobulinemia and isolated growth hormone deficiency

The Turkish Journal of Pediatrics, 1998
X-linked agammaglobulinemia and isolated growth hormone deficiency was first described in 1980 and then classified as a different primary immune deficiency.
D Arslan, T Patiroğlu, M Kendirci, S Kurtoğlu   +3 more
doaj  

Diagnosis of a case of X-linked agammaglobulinemia with juvenile idiopathic arthritis and recurrent pneumonia in Bangladesh

Indian Journal of Allergy Asthma and Immunology, 2023
X-linked agammaglobulinemia (XLA) is a rare hereditary primary immunodeficiency disorder caused by mutation in the Bruton's tyrosine kinase (BTK) gene located in the Xq22 region of the X chromosome. It is characterized by absolute or marked deficiency of
Avizit Sarker, Mohammad Imnul Islam, Ismet Nigar, Md Eunus Ali, Chandan Kumar Roy   +4 more
doaj   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Neutropenia Associated with X-Linked Agammaglobulinemia

Iranian Journal of Allergy, Asthma and Immunology, 2009
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, Cheraghi Taher , Rezaei Nima, Kanegane Hirokazu, Abdollahzede Sina, Talaei-Khoei Mojtaba, Heidari Golnaz , Zandieh Fariborz, Moin Mostafa, Miyawaki Toshio   +9 more
doaj  

Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male.

Allergologia et Immunopathologia, 2021
INTRODUCTION AND OBJECTIVES X-linked agammaglobulinemia (XLA), the first known primary immunodeficiency, is caused by rare mutations in Bruton's tyrosine kinase (BTK) gene.
Zoha Shaka, Helia Mojtabavi, Elham Rayzan, S. Zoghi, S. Shahkarami, Jimenez Heredia Raul, I. Sedighi, K. Boztug, N. Rezaei   +8 more
semanticscholar   +1 more source