Results 71 to 80 of about 12,870 (263)

Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia

Frontiers in Immunology, 2020
Background: X-linked agammaglobulinemia (XLA) is caused by a mutation of the Bruton's tyrosine kinase (BTK) gene and is the most common genetic mutation in patients with congenital agammaglobulinemia.
Y. Yeh, M. Hsieh, Wen-I. Lee, Jing-Long Huang, Li-Chen Chen, K. Yeh, L. Ou, T. Yao, Chao-Yi Wu, Syh-Jae Lin   +9 more
semanticscholar   +1 more source

X-linked agammaglobulinemia

Clinical Immunology and Immunopathology, 1991
X-linked agammaglobulinemia (XLA) patients manifest a very low production of immunoglobulins (Ig) of all classes and plasma cells are virtually absent. The XLA gene plays a crucial role in the transition of pre-B cells to later B cell stages, as hardly any slg-positive B lymphocytes can be detected.
R.K.B. Schuurman, M. De Weers, F.W. Alt, R.W. Hendriks, E. Timmers   +4 more
openaire   +3 more sources

New Horizons for Multiple Sclerosis Therapy: 2025 and Beyond

Annals of Neurology, Volume 98, Issue 2, Page 317-328, August 2025.
The advances achieved against multiple sclerosis (MS) represent one of the great success stories of modern molecular medicine. The development of therapies with increasing selectivity and safety, guided by gains in understanding the fundamental immunology, neurobiology, genetics, and triggers of this disease, have broadened the traditional focus on ...
Joseph J. Sabatino Jr., Bruce A. C. Cree, Stephen L. Hauser   +2 more
wiley   +1 more source

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling

Frontiers in Immunology, 2020
X-linked agammaglobulinemia (XLA) is a clinically and genetically well-defined immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent bacterial infections, profound hypogammaglobulinemia, and ...
Jacques G. Rivière, C. Franco-Jarava, M. Martínez-Gallo, Aina Aguiló-Cucurull, L. Blasco-Pérez, Ida Paramonov, M. Antolín, A. Martín-Nalda, P. Soler-Palacín, R. Colobran   +9 more
semanticscholar   +1 more source

Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort

Journal of Clinical Laboratory Analysis, Volume 39, Issue 16, August 2025.
Refining TREC cutoff values in newborn screening (NBS) for SCID: ROC analysis of a large testing cohort supports increasing the TREC threshold from 100 to 150–200 copies/105 cells, improving assay sensitivity and enabling earlier detection of SCID and other immunodeficiencies.
Andrey Marakhonov, Ekaterina Kalinina, Sergey Larin, Maryam Khadzhieva, Ekaterina Dudina, Anna Mukhina, Yulia Rodina, Irina Efimova, Natalya Balinova, Irina Sermyagina, Olga Shchagina, Rena Zinchenko, Sergey Voronin, Anna Shcherbina, Sergey Kutsev   +14 more
wiley   +1 more source

Case report: Rapidly progressive neurocognitive disorder with a fatal outcome in a patient with PU.1 mutated agammaglobulinemia

Frontiers in Immunology
IntroductionPU.1-mutated agammaglobulinemia (PU.MA) represents a recently described autosomal-dominant form of agammaglobulinemia caused by mutation of the SPI1 gene.
Rada Miskovic, Rada Miskovic, Jelena Ljubicic, Jelena Ljubicic, Branka Bonaci-Nikolic, Branka Bonaci-Nikolic, Ana Petkovic, Vladana Markovic, Vladana Markovic, Ivan Rankovic, Jelena Djordjevic, Jelena Djordjevic, Ana Stankovic, Kristel Klaassen, Sonja Pavlovic, Maja Stojanovic, Maja Stojanovic   +16 more
doaj   +1 more source

Oral management of a patient with down syndrome and agammaglobulinemia: a case report

BMC Oral Health, 2020
Background Down syndrome is characterized by a variety of dysmorphic features and congenital malformations, such as congenital heart disease, gastrointestinal disease, and other conditions like leukemia and autoimmune disorders.
Yasuka Kusumoto, Kohsuke Imai, Yoshio Ohyama, Haruhisa Fukayama, Osamu Shinozuka   +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

Fatal Progressive Meningoencephalitis Diagnosed in Two Members of a Family With X-Linked Agammaglobulinemia

Frontiers in Pediatrics, 2020
Chronic enteroviral meningoencephalitis is a well-known complication in patients with X-linked agammaglobulinemia (XLA). However, progressive neurodegenerative disorders or chronic neuroinflammatory diseases with no causative microorganisms have been ...
Y. Kasahara, M. Imamura, Chansu Shin, H. Shimizu, J. Utsumi, Ryosuke Hosokai, Haruko Iwabuchi, Takayuki Takachi, A. Kakita, H. Kanegane, A. Saitoh, C. Imai   +11 more
semanticscholar   +1 more source

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