Results 51 to 60 of about 11,478 (246)

Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome

Frontiers in Immunology, 2017
Immunodeficiency, centromeric instability, and facial anomaly (ICF) syndrome is a rare autosomal recessive genetic condition with severe immunodeficiency, which leads to lethal infections if not recognized and treated in early childhood.
Katharina L. Gössling, Cyrill Schipp, Ute Fischer, Florian Babor, Gerhard Koch, Friedhelm R. Schuster, Jutta Dietzel-Dahmen, Dagmar Wieczorek, Arndt Borkhardt, Roland Meisel, Michaela Kuhlen   +10 more
doaj   +1 more source

Clinical case of primary immunodeficiency: X-linked agammaglobulinemia

Медицинская иммунология, 2020
Aclinical case ofprimary immunodeficiency state (PIDS) is described: X-linked agammaglobulinemia in the boy of 8 years old. The results of molecular genetic studies: gene btk (ex 1-19) genome version GRCh38.p5, transcript version ENST00000308731 single ...
E. V. Kuvschinova, L. M. Kurtasova, A. G. Borisov, A. R. Schmidt, T. A. Gerasimova   +4 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

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

Campylobacter jejuni Pericarditis: A Case Report

Acta Médica Portuguesa, 2022
Campylobacter jejuni is one of the most common causes of enteritis. In rare cases, extraintestinal infection can occur, with a handful of cases of cardiac involvement, of which the pathophysiological mechanism is unclear.
Joao Neves-Maia, Catarina Gomes, António Marinho, Rute Alves   +3 more
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Atypical course of COVID-19 in patient with Bruton agammaglobulinemia

Journal of Infection in Developing Countries, 2020
We present atypical course of the novel coronavirus disease (COVID-19) in 34-year man with Bruton agammaglobulinemia. The patient was successfully treated by a combination of available drugs, including convalescent plasma and interleukin-6 (IL-6 ...
Ivana Milošević, Jaroslava Jovanović, Olja Stevanovic   +2 more
doaj   +1 more source

Tyrphostin AG126 exerts neuroprotection in CNS inflammation by a dual mechanism [PDF]

, 2015
© 2015 Wiley Periodicals, Inc. Acknowledgement Grant sponsor: State of Lower Saxony-Israel Research Cooperation; Grant number: ZN2035; Grant sponsor:German Research Council; Grant number: SFB/TRR43 and FOR1336; Grant sponsor: Parkinson UK; Grant number ...
Akarasereenont, Amedei, Angstwurm, Balachandra, Bermejo, Bettelli, Boucheron, Brenner, Brück, Byrd, Chatterjee, Chiang, Coles, Cossburn, Cuzzocrea, Cuzzocrea, Das Sarma, Doyle, Dugo, Fischer, Fitzner, George, Ghoreschi, Goldmann, Gorina, Gray, Haider, Hanamsagar, Hanisch, Hanisch, Hanisch, Hoffmann, Hong, Horwood, Jaleel, Jefferies, Kahlenberg, Kann, Kawai, Kelly, Khan, Krady, Langer-Gould, Lee, Lehmann, Lehmann-Horn, Lehnardt, Levitzki, Li, Lin, Liu, Liu, Lopez-Talavera, Mangla, Marzocco, Mattsson, Mauro, McDonald, McGeer, Mehta, Mijovic, Mohamed, Moore, Muelas-Serrano, Mukhopadhyay, Murray, Novogrodsky, Perry, Prinz, Raghavan, Ramdas, Regen, Rossum, Ruetten, Sagara, Scheffel, Schmidt, Schweingruber, Simmons, Soltoff, Spitzer, Stewart, Terada, Turpaev, Tönges, Wang, Wang, Weber, Weber, Wüst, Xiao, Zhang, Zorn   +92 more
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A Case of Fabry's Disease with Congenital Agammaglobulinemia [PDF]

, 2011
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and ...
Bernstein, Brady, Brady, Clarke, Conley, Conley, Jin-Woo Hong, Ki-Ho Kim, Ki-Hoon Song, Ki-Yeol Lee, MacDermot, Mehta, Miller, Nomura, Ochs, Oeltjen, Ohta, Su-Young Jeon, Sung-Eun Kim, Tsukada, Väliaho, Young-Hun Kim, Zarate   +22 more
core   +2 more sources

Bruton’s Disease [PDF]

, 2015
Bruton’s disease, in other terms X-linked agammaglobulinemia (XLA), is the first reported primary immunodeficiency in 1952, caused by a single genetic defect.
Camcıoğlu, Yıldız
core   +2 more sources

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