Results 1 to 10 of about 1,738 (143)

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

Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis

BMC Neurology, 2019
Background X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton’s tyrosine kinase (BTK), which may cause serious ...
Ya-Ni Zhang, Yuan-Yuan Gao, Si-Da Yang, Bin-Bin Cao, Ke-Lu Zheng, Ping Wei, Lian-Feng Chen, Wen-Xiong Chen   +7 more
doaj   +1 more source

"Screening of the Bruton Tyrosine Kinase (BTK) Gene Mutations in 13 Iranian Patients with Presumed X-Linked Agammaglobulinemia "

Iranian Journal of Allergy, Asthma and Immunology, 2004
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (Btk) gene. In order to identify the mutations in Btk gene in Iranian patients with antibody deficiency, 13 male patients with an XLA phenotype ...
"Asghar Aghamohammadi, Nima Parvaneh, Hirokazu Kanegana, Mostafa Moin, Ali Akbar Amirzargar, Abolhassan Farhoudi, Zahra Pourpak, Masoud Movahedi, Mohammad Gharagozlou, Nima Rezaei, Takeshi Futatani, Toshio Miyawaki "   +11 more
doaj  

Mutación de novo en el gen BTK en agammaglobulinemia ligada a X. Reporte de un caso del estado Mérida, Venezuela

Avances en Biomedicina, 2013
Las inmunodeficiencias primarias (IDPs) son un conjunto de enfermedades caracterizadas por defectos en el desarrollo y/o función del sistema inmune debido a anomalías genéticas en cualquiera de sus componentes.
Liliana Aboultaif Aboultaif, Lubna Nasr El Nimer, Maritza Navas, Lérida Margarita Borges Correa, José Angel Cova, Silvia Danelian, Morella Bouchard Pereira   +6 more
doaj  

Cardiac safety profiles of first-generation vs second-generation BTK inhibitors: a meta-analysis. [PDF]

Oncologist
Mushtaq A, Ahmed EN, Aljumaa R, E'mar AR, Badwan O, Ashruf O, Elshaer A, Shaik A, Baroudi M, Moudgil R, Mustafa Ali MK.   +10 more
europepmc   +1 more source

A single-center retrospective study suggests a potential benefit of BTK inhibitor-based therapy in patients with histologic transformation of Waldenström macroglobulinemia. [PDF]

Ann Med
Xia Y, Shen H, Miao Y, Zhao Y, Liu H, Wang S, Tian T, Xu J, Qu X, Li J, Fan L.   +10 more
europepmc   +1 more source

Bruton's Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia. [PDF]

Am J Case Rep
Shamakhi A, Dhayhi N, Matabi S, Maashi M, Hamdi AD, Ali B, Hazazi F, Alhamoud AH.   +7 more
europepmc   +1 more source

Factors influencing front line treatment of chronic lymphocytic leukemia: A French real-world study. [PDF]

Cancer
Coste A, Sritharan N, Lok A, Tomowiak C, Ferrant E, Clavert A, Roos-Weil D, Bouclet F, Caillet A, Croizier C, Stocker N, Tchernonog E, Feugier P, Santagostino A, Hivert B, Michallet AS, De Guibert S, Lara D, Waultier-Rascalou A, Merabet F, Durand A, Bussot L, Laribi K, Dilhuydy MS, Lévy V, Quinquenel A.   +25 more
europepmc   +1 more source

NLRP3 inflammasome-mediated platelet hyperreactivity in sickle cell mice is targetable by BTK inhibition. [PDF]

Biochem Biophys Res Commun
Vogel S, Kamimura S, Nguyen E, Smith M, Almeida LEF, Zerfas P, Bharti K, Combs C, de Melo MS, Quezado ZMN.   +9 more
europepmc   +1 more source

Real-world comparison of BTK inhibitors and lenalidomide as first-line maintenance in primary CNS lymphoma: a multi-center retrospective study. [PDF]

J Neurooncol
Chang X, He Z, Wang H, Zhu H, Guo Y, Zou D, Zhao Z, Song T, Hu R, Ni J, Zhao H, Hui W, Liu Z, Li Z, Zhang W, Zhou D, Zhang Y, Sun W.   +17 more
europepmc   +1 more source