Results 41 to 50 of about 8,230 (206)

Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model [PDF]

, 2014
X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency that results from mutations within the gene encoding Bruton’s tyrosine kinase (BTK). Many XLA-associated mutations affect splicing of BTK pre-mRNA and severely impair B cell development ...
Behlke, Mark A, Berglöf, Anna, Bestas, Burcu, Blomberg, K Emelie M, El Andaloussi, Samir, Gait, Michael J, Gustafsson, Manuela O, Guterstam, Peter, Kharazi, Shabnam, Lundin, Karin E, Mohammad, Dara K, Moreno, Pedro M D, Månsson, Robert, Nordin, Joel Z, Piątosa, Barbara, Roberts, Thomas C, Saleh, Amer F, Smith, C I Edvard, Sutlu, Tolga, Wengel, Jesper, Wood, Matthew J A   +20 more
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Genetic stability of Campylobacter coli in patients with primary antibody deficiencies [PDF]

, 2019
In the Clinical Communication, Dion et al 1 reported that in patients with severe primary antibody deficiency (PAD), Campylobacter infection is a major cause (6.5%) of chronic or recurrent diarrhea. Moreover, by a molecular study performed in a subset of
Milito, Cinzia, Quinti, Isabella
core   +1 more source

X-linked agammaglobulinemia

Medicine, 2006
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the gene for Bruton tyrosine kinase (BTK) that result in the deficient development of B lymphocytes and hypogammaglobulinemia. Because the disorder is uncommon, no single institution has had sufficient numbers of patients to develop a comprehensive clinical picture ...
Jerry A, Winkelstein, Mary C, Marino, Howard M, Lederman, Stacie M, Jones, Kathleen, Sullivan, A Wesley, Burks, Mary Ellen, Conley, Charlotte, Cunningham-Rundles, Hans D, Ochs   +8 more
openaire   +3 more sources

JOINT DISEASE IN CHILDREN WITH X-LINKED AGAMMAGLOBULINEMIA

Journal of IMAB, 2013
Patients with X-linked agammaglobulinemia (XLA) are prone to recurrent bacterial infections due to low levels of immunoglobulins. Clinical symptoms include recurrent bacterial otitis media, bronchitis, pneumonia, meningitis, skin infection and arthritis ...
Lidija Kareva, Kristina Mironska, Katarina Stavric   +2 more
doaj   +1 more source

Sustained correction of B-cell development and function in a murine model of X-linked agammaglobulinemia (XLA) using retroviral-mediated gene transfer [PDF]

, 2004
X-linked agammaglobulinemia (XLA) is a human immunodeficiency caused by mutations in Bruton tyrosine kinase (Btk) and characterized by an arrest in early B-cell development, near absence of serum immunoglobulin, and recurrent bacteria infections.
Astrakhan, A., Chae, K., Ellmeier, W., Humblet, Stéphanie, Kato, R. M., Kipp, K., Rawlings, D. J., Tabuchi, R. S., Witte, O. N., Yu, P. W.   +9 more
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Disseminated Spiroplasma apis Infection in Patient with Agammaglobulinemia, France

Emerging Infectious Diseases, 2018
We report a disseminated infection caused by Spiroplasma apis, a honeybee pathogen, in a patient in France who had X-linked agammaglobulinemia. Identification was challenging because initial bacterial cultures and direct examination by Gram staining were
Nicolas Etienne, Laurent Bret, Cécile Le Brun, Hervé Lecuyer, Josquin Moraly, Fanny Lanternier, Olivier Hermine, Agnès Ferroni, Marc Lecuit, Sabine Pereyre, Laure Beven, Olivier Lortholary   +11 more
doaj   +1 more source

Gastrointestinal Manifestations in X-linked Agammaglobulinemia [PDF]

Journal of Clinical Immunology, 2017
X-linked agammaglobulinemia is a primary humoral immunodeficiency characterized by hypogammaglobulinemia and increased susceptibility to infection. Although there is increased awareness of autoimmune and inflammatory complications in X-linked agammaglobulinemia (XLA), the spectrum of gastrointestinal manifestations has not previously been fully ...
Sara Barmettler, Iris M. Otani, Jasmit Minhas, Roshini S. Abraham, Yenhui Chang, Morna J. Dorsey, Zuhair K. Ballas, Francisco A. Bonilla, Hans D. Ochs, Jolan E. Walter   +9 more
openaire   +2 more sources

X-linked agammaglobulinemia with bronchiectasis and infection： a case report [PDF]

Zhenduanxue lilun yu shijian
X-linked agammaglobulinemia (XLA) is a rare disease characterized by severe hypogammaglobulinemia, antibody deficiency, and recurrent infections. This study reports a case of X-linked agammaglobulinemia combined with bronchiectasis and infection.
LIN Jiayuan, CHENG Qijian, CHEN Ling
doaj   +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

X-linked Agammaglobulinemia Presenting with Multiviral Pneumonia [PDF]

Cureus, 2020
X-linked agammaglobulinemia (XLA) is a primary humoral immunodeficiency characterized by severe hypogammaglobulinemia and increased risk of infection. The genetic condition results from a mutation in the Bruton tyrosine kinase (BTK) gene located on the X chromosome leading to a near absence of B cells.
Arroyo-Martinez, Yadis M, Saindon, Michael, Raina, Jilmil S   +2 more
openaire   +2 more sources