Results 81 to 90 of about 11,478 (246)

A single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects

Pediatric Allergy and Immunology, Volume 35, Issue 9, September 2024.
Abstract Background Phosphoinositide 3 kinases (PI3K) are lipid kinases expressed in lymphocytes/myeloid cells. PI3K/AKT/mTOR signaling defects present with recurrent infections, autoimmunity, lymphoproliferation, and agammaglobulinemia. Objective To characterize the PI3K/AKT/mTOR pathway defects and perform pathway analyses to assess novel variant ...
Hacer Neslihan Bildik, Saliha Esenboga, Sevil Oskay Halaclı, Betül Karaatmaca, Elif Soyak Aytekin, Nadira Nabiyeva, Ayşegul Akarsu, Melike Ocak, Baran Erman, Cagman Tan, Tugba Arikoglu, Ismail Yaz, Begum Cicek, Ilhan Tezcan, Deniz Cagdas   +14 more
wiley   +1 more source

Chronic Enteroviral Meningoencephalitis in a Boy with X-Linked Agammaglobulinemia [PDF]

, 2000
Os autores apresentam um caso clínico de encefalite crónica a enterovírus num rapaz de 9 anos com agamaglobulinémia congénita ligada ao cromossoma X (doença de Bruton). Apesar da terapêutica intraventricular com doses elevadas de gamaglobulina, registou-
Alves, A, Cabral, P, Dias, AI, Fialho, M, Martins, M   +4 more
core  

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

Cracking the type 1 diabetes code: Genes, microbes, immunity, and the early life environment

Immunological Reviews, Volume 325, Issue 1, Page 23-45, August 2024.
Summary Type 1 diabetes (T1D) results from a complex interplay of genetic predisposition, immunological dysregulation, and environmental triggers, that culminate in the destruction of insulin‐secreting pancreatic β cells. This review provides a comprehensive examination of the multiple factors underpinning T1D pathogenesis, to elucidate key mechanisms ...
Christopher Yau, Jayne S. Danska
wiley   +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

Bruton tyrosine kinase in immunodeficiency and in B-cell malignancy [PDF]

, 2020
BTK inhibitors have induced high response rates in the treatment of leukemias and lymphomas. Ibrutinib is the first-in-class US Food and Drug Administration (FDA)-approved BTK covalent inhibitor to treat chronic lymphocytic leukemia (CLL).
Wang, Qing
core   +1 more source

Orodental health status of patients with inborn errors of immunity

International Journal of Paediatric Dentistry, Volume 34, Issue 4, Page 453-463, July 2024.
Abstract Background Various orodental problems affect patients with inborn errors of immunity (IEI), but there are limited studies on these issues. Aim To study orodental status and its confounding factors in patients with IEI. Design Caries, enamel defects, gingival, and soft tissue conditions were examined.
Thitaya Chaiboonyarak, Soranun Chantarangsu, Patcharaporn Gavila, Mongkol Lao‐Araya, Narissara Suratannon, Thantrira Porntaveetus   +5 more
wiley   +1 more source

Arthritis and X-linked agammaglobulinemia [PDF]

, 2008
Primary immunodeficiencies are defined as genetically determined functional and/or quantitative abnormalities in one or more of the components of the immune system.
Chieira, C, Faria, E, Machado, P, Malcata, AB, Santos, A, Silva, J   +5 more
core  

Infections, autoimmunity and immunodeficiencies are the leading etiologies of non-cystic fibrosis bronchiectasis in adults from the southwest of Colombia.

Biomédica: revista del Instituto Nacional de Salud
Introduction. Non-cystic fibrosis bronchiectasis is a complex medical condition with multiple etiologies, characterized by chronic productive cough and radiologic evidence of airway lumen dilation and wall thickening.
Andrés F. Zea-Vera, Carlos Andrés Rodríguez, Sebastián Giraldo, Mario Alejandro Chacón, Luis Fernando Guerrero, Ricardo Mosquera, Raúl Andrés Vallejo, Fabio Samir Vargas, María Andrea García, María A. Rengifo, Anilza Bonelo, Maximiliano Parra   +11 more
doaj   +1 more source

Antiviral therapies for the management of persistent coronavirus disease 2019 in immunocompromised hosts: A narrative review

Transplant Infectious Disease, Volume 26, Issue 3, June 2024.
Abstract Antiviral agents with activity against severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) have played a critical role in disease management; however, little is known regarding the efficacy of these medications in the treatment of SARS‐CoV‐2 infection in immunocompromised patients, particularly in the management of persistent SARS‐CoV‐
Paul M. Kinsella, Michael A. Moso, Catherine Orla Morrissey, Claire Dendle, Stephen Guy, Katherine Bond, Joseph Sasadeusz, Monica A. Slavin   +7 more
wiley   +1 more source