Results 1 to 10 of about 8,230 (206)

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

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

Late diagnosis of agammaglobulinemia in an 8-year-old boy

Pediatria i Medycyna Rodzinna, 2016
Chromosome X-linked Bruton agammaglobulinemia is classified as a primary immunodeficiency disorder. It is a genetic condition associated with a mutation in the BTK gene encoding tyrosine kinase.
Małgorzata Sopińska, Karolina Kapusta, Edyta Heropolitańska-Pliszka, Anna Jung, Bolesław Kalicki   +4 more
doaj   +1 more source

KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily [PDF]

, 2016
Background: The association between aberrant signal processing by protein kinases and human diseases such as cancer was established long time ago.
Brunak, Søren, Gonzalez-Izarzugaza, Jose Maria, Matey-Hernandez, María Luisa, Pons, Tirso, Valencia, Alfonso, Vazquez, Miguel   +5 more
core   +4 more sources

X-linked agammaglobulinemia and isolated growth hormone deficiency

The Turkish Journal of Pediatrics, 1998
X-linked agammaglobulinemia and isolated growth hormone deficiency was first described in 1980 and then classified as a different primary immune deficiency.
D Arslan, T Patiroğlu, M Kendirci, S Kurtoğlu   +3 more
doaj  

Autoimmunity and Inflammation in X-linked Agammaglobulinemia [PDF]

Journal of Clinical Immunology, 2014
In the past, XLA was described as associated with several inflammatory conditions, but with adequate immune globulin treatment, these are presumed to have diminished. The actual prevalence is not known.A web-based patient survey was conducted December 2011- February 2012.
Hernandez-Trujillo, Vivian P, Scalchunes, Chris, Cunningham-Rundles, Charlotte, Ochs, Hans D, Bonilla, Francisco A, Paris, Ken, Yel, Leman, Sullivan, Kathleen E   +7 more
openaire   +5 more sources

Pseudomonas aeruginosa sepsis presenting as oral ecthyma gangrenosum in identical twins with Bruton tyrosine kinase gene mutation: Two case reports and review of the literature

Journal of Microbiology, Immunology and Infection, 2020
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease. We reported two 7-month-old identical male twins with Pseudomonas aeruginosa sepsis who initially manifested as oral ecthyma gangrenosum and were finally diagnosed to have XLA.
Sheng-Chieh Lin, Bor-Luen Chiang, Yuarn-Jang Lee, Ya-Ting Chang, Shiuh-Bin Fang   +4 more
doaj   +1 more source

Efficacy and Safety of Hizentra®, a New 20% Immunoglobulin Preparation for Subcutaneous Administration, in Pediatric Patients with Primary Immunodeficiency [PDF]

, 2011
Subcutaneous IgG treatment for primary immunodeficiencies (PI) is particularly well suited for children because it does not require venous access and is mostly free of systemic adverse events (AEs).
Bernd Belohradsky, Bodo Grimbacher, Jutta Neufang-Hueber, Malgorzata Pac, Margit Serban, Michael Borte, Othmar Zenker, Stephen Jolles, Teresa Gonzalez-Quevedo   +8 more
core   +2 more sources

Mutations in topoisomerase IIβ result in a B cell immunodeficiency. [PDF]

, 2019
B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in ...
Austin, Caroline A, Booshehri, Laela M, Broderick, Lori, Brydges, Susannah D, Cowell, Ian G, Croker, Ben A, Frazer, Kelly A, Gebauer, Corinna, Guaderrama, Marisela, Hakonarson, Hakon, Harr, Margaret, Hoffman, Hal M, Hügle, Boris, Kucharova, Karolina, Li, Dong, McGeough, Matthew D, Patel, Niraj C, Putnam, Christopher D, Wang, Jian, Xu, Xun, Yost, Shawn, Zackai, Elaine, Zhang, Jianguo   +22 more
core  

Biweekly Hizentra® in Primary Immunodeficiency: a Multicenter, Observational Cohort Study (IBIS) [PDF]

, 2018
Immunoglobulin G (IgG) replacement therapy is a standard treatment for patients with primary immunodeficiency diseases (PIDs). Hizentra®, a 20% human subcutaneous IgG (SCIG), is approved for biweekly administration for PIDs.
Azzari, Chiara, Boggia, Giorgio Maria, Gallo, Vera, Graziani, Simona, Martire, Baldassarre, Matucci, Andrea, Moschese, Viviana, Palladino, Valentina, Pecoraro, Antonio, Pignata, Claudio, Ricci, Silvia, Spadaro, Giuseppe, Trizzino, Antonino, Vultaggio, Alessandra   +13 more
core   +2 more sources