Results 51 to 60 of about 18,379 (288)

Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1.

Journal of Allergy and Clinical Immunology, 2021
CAPSULE SUMMARY Bob1 deficiency reduces B-cell responsiveness, impairs plasmablast formation and immunoglobulin secretion. Bob1 deficiency presents with increased susceptibility to respiratory infections and agammaglobulinemia despite normal B-cell ...
P. Kury, J. Staniek, Oliver Wegehaupt, I. Janowska, M. Eckenweiler, R. Korinthenberg, N. Japaridze, M. Pendziwiat, I. Helbig, E. Verhoeyen, Johannes M. Jung, Andrés Caballero Garcia de Oteyza, M. Proietti, T. Phirtskhalaishvili, I. Rtskhiladze, P. Nielsen, S. Ehl, C. Speckmann, M. Rizzi   +18 more
semanticscholar   +1 more source

Subcutaneous IgG Replacement Therapy by Push in 32 Patients with Primary Immunodeficiency Diseases in Argentine [PDF]

, 2014
Introduction: Regular replacement with immunoglobulin infusions is the mainstay of treatment in the majority of primary immunodeficiencies. Several studies showed that Subcutaneous Immunoglobulin (SCIG) has similar efficacy to Intravenous Immunoglobulin (
Bezrodnik, Liliana, Díaz Ballve, Damacia, Giovanni, Daniela Di, Gómez Raccio, Andrea, Moreira, Ileana, Regairaz, Lorena, Seminario, Gisela   +6 more
core   +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

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

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

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

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

IgM Augments Complement Bactericidal Activity with Serum from a Patient with a Novel CD79a Mutation [PDF]

, 2018
Antibody replacement therapy for patients with antibody deficiencies contains only IgG. As a result, concurrent IgM and IgA deficiency present in a large proportion of antibody deficient patients persists.
Burg, M. (Mirjam) van der, Flier, M. (Michiel) van der, Henriet, S.S.V. (Stefanie S.V.), Jonge, M.I. (Marien) de, Kuipers, S. (Saskia), Langereis, J.D. (Jeroen), Weemaes, C.M.R. (Corry)   +6 more
core   +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

Clinic of humoral primary immunodeficiencies in adults. Experience in a tertiary hospital

Revista Alergia México, 2016
Background: Primary immunodeficiencies (PID) are characterized by alteration of the components of the immune system. Humoral deficiencies represent 50%.
Julio César Cambray-Gutiérrez, Diana Andrea Herrera-Sánchez, Lizbeth Blancas-Galicia, Patricia María O’Farrill-Romanillos   +3 more
doaj   +1 more source