Results 51 to 60 of about 18,093 (282)

Presentation of a case of Bruton type primary agammaglobulinemia in Guinea

The Pan African Medical Journal, 2020
X-linked agammaglobulinemia (XLA) is a rare genetic disease caused by a mutation in the Bruton tyrosine kinase (BTK) gene. It is characterized by a profound deficiency of B cells and a decrease in all classes of immunoglobulins (Ig).
Kaba Condé, Hugues Ghislain Atakla, Mamadou Ciré Barry, Mohamed Lamine Condé, Malé Doré   +4 more
doaj   +1 more source

Disseminated Metacestode Versteria Species Infection in Woman, Pennsylvania, USA

Emerging Infectious Diseases, 2019
A patient in Pennsylvania, USA, with common variable immunodeficiency sought care for fever, cough, and abdominal pain. Imaging revealed lesions involving multiple organs.
Bethany Lehman, Sixto M. Leal, Gary W. Procop, Elise O’Connell, Jahangheer Shaik, Theodore E. Nash, Thomas B. Nutman, Stephen Jones, Stephanie Braunthal, Shetal N. Shah, Michael W. Cruise, Sanjay Mukhopadhyay, Jona Banzon   +12 more
doaj   +1 more source

Subcutaneous Immunoglobulin Replacement Therapy with Hizentra® is Safe and Effective in Children Less Than 5 Years of Age. [PDF]

, 2015
BACKGROUND:Hizentra® (IGSC 20%) is a 20% liquid IgG product approved for subcutaneous administration in adults and children 2 years of age and older who have primary immunodeficiency disease (PIDD). There is limited information about the use of IGSC 20 %
Atkinson, Thomas Prescott, Bonilla, Francisco A, Dorsey, Morna, Gallagher, Joel L, Haddad, Elie, Heimall, Jennifer, Kobrynski, Lisa, Morris, David, Ochs, Hans D, Patel, Niraj C, Wahlstrom, Justin   +10 more
core   +2 more sources

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
core   +1 more source

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency.

Blood, 2020
Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated three novel patients, including the first known adult, from unrelated families with ...
F. Saettini, C. Poli, J. Vengoechea, S. Bonanomi, J. Orellana, G. Fazio, Fred Rodriguez, Loreani P. Noguera, C. Booth, Valentina Jarur-Chamy, M. Shams, M. Iascone, Maja Vukic, S. Gasperini, M. Quadri, Amairelys Belen Barroeta Seijas, E. Rivers, Mario Mauri, R. Badolato, G. Cazzaniga, C. Bugarin, G. Gaipa, W. Kroes, D. Moratto, Monique M. van Ostaijen-ten Dam, F. Baas, S. M. van der Maarel, R. Piazza, Z. Coban-Akdemir, J. Lupski, Bo Yuan, Ivan K. Chinn, L. Daxinger, A. Biondi   +33 more
semanticscholar   +1 more source

Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male.

Allergologia et Immunopathologia, 2021
INTRODUCTION AND OBJECTIVES X-linked agammaglobulinemia (XLA), the first known primary immunodeficiency, is caused by rare mutations in Bruton's tyrosine kinase (BTK) gene.
Zoha Shaka, Helia Mojtabavi, Elham Rayzan, S. Zoghi, S. Shahkarami, Jimenez Heredia Raul, I. Sedighi, K. Boztug, N. Rezaei   +8 more
semanticscholar   +1 more source

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

Differential in vitro infection of neural cells by astroviruses [PDF]

, 2019
Encephalitis remains a diagnostic conundrum in humans as over 50% of cases are managed without the identification of an etiology. Astroviruses have been detected from the central nervous system of mammals in association with disease, suggesting that this
Janowski, Andrew B, Klein, Robyn S, Wang, David   +2 more
core   +2 more sources

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

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