Results 81 to 90 of about 18,379 (288)

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

Lymphocytes B and primary immunodeficiencies

Revista Alergia México, 2016
Primary antibody deficiencies represent the most frequent genetic diseases of the immune system and the first to be recognized along immunology history.
Gabriela López-Herrera
doaj   +1 more source

Identification of a novel BTK variant in a Chinese family with X-linked agammaglobulinemia [PDF]

Jichu yixue yu linchuang, 2021
Objective To identify the pathogenic variant in a Chinese family with X-linked agammaglobulinemia (XLA). Methods A trio family with suspected X-linked agammaglobulinemia was recruited.
ZHANG Han, SUN Yang, WANG Rong-rong, ZHANG Wen, ZHANG Xue
doaj  

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

Ibrutinib inhibits SDF1/CXCR4 mediated migration in AML [PDF]

, 2014
Pharmacological targeting of BTK using ibrutinib has recently shown encouraging clinical activity in a range of lymphoid malignancies. Recently we reported that ibrutinib inhibits human acute myeloid leukemia (AML) blast proliferation and leukemic cell ...
Bowles, Kristian M, Lawes, Matthew J, MacEwan, David J, Murray, Megan Y, Rushworth, Stuart A, Shafat, Manar S., Zaitseva, Lyubov   +6 more
core   +2 more sources

Viral Immunity in Immunoglobulin Products: Global Immunity Debt and Autoimmunity in the Postpandemic Era

European Journal of Immunology, Volume 56, Issue 3, March 2026.
Immunoglobulin products derived from pooled global plasma reflect population‐level antiviral immunity. Analysis of batches from 2017 to 2023 reveals pandemic‐driven shifts in viral antibody profiles and a concurrent rise in autoantibodies, notably against TRIM21/Ro52, highlighting links between SARS‐CoV‐2, immunity debt, and autoimmunity.
Hannes Lindahl, Katy Shaw‐Saliba, H. Benjamin Larman, C. I. Edvard Smith, Peter Bergman   +4 more
wiley   +1 more source

Clinical and Economic Implications of Immunoglobulin Use Under Restrictive Conditions in Adult Patients With Neurological Diseases and Immunodeficiencies in Spain

European Journal of Neurology, Volume 33, Issue 3, March 2026.
This study analyzes nationwide hospitalization data from Spain to evaluate the clinical and economic impact of restrictive immunoglobulin access in neurological disorders and immunodeficiencies. Using ICD‐10–coded admissions from 2019 and 2022, changes in clinical outcomes and resource use were assessed.
Luis Querol, J. Bruno Montoro‐Ronsano, Pere Soler‐Palacín, Jonathan Galduf, Óscar Martínez‐Pérez, Helena Díaz‐Cuervo   +5 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

Role of Bruton's tyrosine kinase in B cells and malignancies [PDF]

, 2018
Bruton's tyrosine kinase (BTK) is a non-receptor kinase that plays a crucial role in oncogenic signaling that is critical for proliferation and survival of leukemic cells in many B cell malignancies. BTK was initially shown to be defective in the primary
Dammeijer, F. (Floris), Hendriks, R.W. (Rudi), Pal Singh, S. (Simar)   +2 more
core   +4 more sources

Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey

Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.
ABSTRACT Background Inborn errors of immunity (IEI), previously referred to as primary immunodeficiencies, are a heterogeneous group of genetic disorders affecting immune development and function. While once considered rare, IEIs are increasingly recognized, particularly in regions with high consanguinity rates.
Burcu Cil Yılmaz, Sibel Kaplan Sarikavak, Sezin Naiboglu, Gulsah Kalay, Erkan Cakmak, Ozge Turkyilmaz Ucar, Selami Ulas, Nermin Kapci, Pinar Gokmirza, Cigdem Aydogmus   +9 more
wiley   +1 more source