Results 61 to 70 of about 161,849 (206)

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,
Qi Tan, Fa Liang Ren, Hua Wang
openaire   +3 more sources

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

The Clinical Course of COVID-19 Pneumonia in a 19-Year-Old Man on Intravenous Immunoglobulin Replacement Therapy for X-Linked Agammaglobulinemia

The American journal of case reports, 2021
Patient: Male, 19-year-old Final Diagnosis: COVID-19 Symptoms: Cough • diarrhea • fever • shortness of breath Medication: — Clinical Procedure: — Specialty: Immunology • Infectious Diseases • Pulmonology Objective: Rare co-existance of disease or ...
A. Almontasheri, F. Al-Husayni, A. Alsuraihi, Hanan S Binyahib, A. Albanna   +4 more
semanticscholar   +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

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

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

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 ...
Jerry A. Winkelstein, Howard M. Lederman
openaire   +3 more sources

CRISPR/Cas9‐edited tumor‐associated immune cells in cancer immunotherapy

VIEW, EarlyView.
Abstract Immuno‐oncology represents an emerging field that has significantly transformed tumor therapeutics, with immune cells serving as the cellular foundations of cancer immunotherapy. Due to its high efficiency and sensitivity, CRISPR/Cas9 genome editing is a highly promising technique for precise and rapid gene modification.
Yuhui Ma, Junxin Chen, Yuan Du, Zhihao Cao, Weizhi Ji, Yuyu Niu, Zebin Yang   +6 more
wiley   +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

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