Results 41 to 50 of about 11,926 (252)

Bruton's agammaglobulinemia [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Probably slight; in a 1963 paper, two patients with lymphoma were reported and reference was made to two adults with hypoglobulinemia who also had lymphomas; recent surveys of XLA patients do not reveal any cases of lymphoma; however, long-term vigilance needs to be maintained; at least seven cases of adenocarcinoma of the gastrointestinal tract in ...
openaire   +2 more sources

Inflammatory Duodenal Polyposis Associated with Primary Immunodeficiency Disease: A Novel Case Report

Case Reports in Medicine, 2017
Agammaglobulinemia is a rare form of B-cell primary immunodeficiency disease characterized by reduced levels of IgG, IgA, or IgM and recurrent bacterial infections. Agammaglobulinemia is most commonly associated with diffuse nodular lymphoid hyperplasia.
Irfan Ali Shera, Sheikh Mudassir Khurshid, Mohd Shafi Bhat   +2 more
doaj   +1 more source

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

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

Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía [PDF]

, 2017
Background: Quantification of T-cell-receptor-excision circles (TRECs) and kappa-deleting-recombination-excision circles (KRECs) from dried blood spots (DBS) allows detection of neonates with severe T-cell and/or B-cell lymphopenia that are potentially ...
Delgado Pecellín, Carmen, Felipe, Beatriz de, Ferrari Cortés, Araceli, Goycochea Valdivia, Walter, Lucena Soto, José Manuel, Olbrich, Peter, Salguero Martín de Soto, Josefa, Sánchez Moreno, Paula, Sánchez Sánchez, Berta   +8 more
core   +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

Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort

Journal of Clinical Laboratory Analysis, EarlyView.
Refining TREC cutoff values in newborn screening (NBS) for SCID: ROC analysis of a large testing cohort supports increasing the TREC threshold from 100 to 150–200 copies/105 cells, improving assay sensitivity and enabling earlier detection of SCID and other immunodeficiencies.
Andrey Marakhonov, Ekaterina Kalinina, Sergey Larin, Maryam Khadzhieva, Ekaterina Dudina, Anna Mukhina, Yulia Rodina, Irina Efimova, Natalya Balinova, Irina Sermyagina, Olga Shchagina, Rena Zinchenko, Sergey Voronin, Anna Shcherbina, Sergey Kutsev   +14 more
wiley   +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
core   +1 more source

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

Quality of life in children with primary antibody deficiency. [PDF]

, 2014
Primary antibody deficiency disorders (PADs) can have an excellent outlook if diagnosed early and treated appropriately, but require lifelong treatment with immunoglobulin replacement.
Allwood, Z, Cale, C, Davies, G, Duran-Persson, C, Gaspar, H, Gilmour, C, Jones, A, Malcolmson, C, Titman, P   +8 more
core   +1 more source