Results 61 to 70 of about 163,168 (216)

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

Clinical, Molecular, Immunological Properties and Our Clinical Experiences in Patients Diagnosed with X-linked Agamaglobulinemia

Journal of Behçet Uz Children's Hospital, 2023
Objective: As a primary immunodeficiency X-linked agammaglobulinemia (XLA) that develops due to Bruton tyrosine kinase signal transduction protein deficiency which progresses with antibody deficiency was firstly described by an American pediatrician ...
Ezgi Balkarlı, Selime Özen Bölük, Ömer Akçal, İlke Taşkırdı, İdil Akay Haci, Nesrin Gülez, Ferah Genel   +6 more
doaj   +1 more source

Immunologic Control of Disseminated Aichi Virus Infection in X-Linked Agammaglobulinemia by Transplantation of TcRαβ-Depleted Haploidentical Hematopoietic Cells

Journal of Clinical Immunology, 2022
We report a rare case of a chronic disseminated Aichi virus infection in a pediatric patient with X-linked agammaglobulinemia (XLA) that was controlled upon HLA-haploidentical hematopoietic cell transplantation (haplo-HCT).
Zivile Bekassy, M. Ehinger, Linda Nyberg Pronk, C. Pronk, Zivile Mats Linda Nyberg Cornelis Jan Dominik Martin Ladi Bekassy Ehinger Pronk Pronk Turkiewicz Lindström K, Zivile Bekassy, M. Ehinger, Linda Nyberg Pronk, C. Pronk, D. Turkiewicz, Martin Lindström, L. Król, N. Brodszki   +12 more
semanticscholar   +1 more source

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

X-Linked Agammaglobulinemia

Medicine, 1985
We have defined the clinical presentation and course of X-linked agammaglobulinemia (X-LA) by means of a multi-center retrospective survey of 96 patients. Infections were the most common presenting feature of patients with X-LA. The most frequent infections involved the upper respiratory tract (75%), lower respiratory tract (65%), gastrointestinal ...
H M, Lederman, J A, Winkelstein
openaire   +2 more sources

Neutralizing SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Give Patients with X-Linked Agammaglobulinemia Limited Passive Immunity to the Omicron Variant

Journal of Clinical Immunology, 2022
Immunodeficient individuals often rely on donor-derived immunoglobulin (Ig) replacement therapy (IGRT) to prevent infections. The passive immunity obtained by IGRT is limited and reflects the state of immunity in the plasma donor population at the time ...
Hannes Lindahl, J. Klingström, Rui Da Silva Rodrigues, W. Christ, Puran Chen, H. Ljunggren, M. Buggert, S. Aleman, C. I. Smith, P. Bergman   +9 more
semanticscholar   +1 more source

Membranoproliferative Glomerulonephritis and X-Linked Agammaglobulinemia: An Uncommon Association

Case Reports in Pediatrics, 2014
Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin.
Vasco Lavrador, Filipa Correia, Rita Sampaio, Cristina Cândido, Maria Sameiro-Faria, Laura Marques, Conceição Mota   +6 more
doaj   +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, Jacques G. Rivière, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Laura Blasco-Pérez, Ida Paramonov, María Antolín, Andrea Martín-Nalda, Andrea Martín-Nalda, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran   +17 more
doaj   +1 more source

Long‐Term Outcomes of Reduced Intensity Conditioning Hematopoietic Stem Cell Transplantation for Systemic Sclerosis Patients with Impaired Cardiac Function

Arthritis &Rheumatology, Accepted Article.
Objective High intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced SSc. The role of reduced intensity conditioning (RIC) prior to AHSCT in this population remains unclear. We conducted this study to determine the long‐term outcomes of RIC AHSCT in SSc patients with cardiac ...
Yonatan Lean, Carrie Richardson, Anthony Esposito, Katy Bedjeti, George E. Georges   +4 more
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source