Next generation sequencing identifies mutations in Colombian patients with primary immunodeficiency diseases

Autor: Carlos Andrés Arango-Franco, Marcela Moncada-Vélez, Alexander Franco-Gallego, Lucía Victoria Erazo, Catalina Martínez, Sebastián Gutiérrez, Jesús Armando Álvarez, Manuela Molina, Diana Arboleda, Laura Naranjo, Juan Álvaro López, Juan Fernando Alzate, Felipe Cabarcas, Claudia Milena Trujillo-Vargas, Julio César Orrego, Satoshi Okada, Anne Puel, Jacinta Bustamante, Jean-Laurent Casanova, Andrés Augusto Arias, José Luis Franco

Publikováno v: Revista Alergia México, Vol 65 suppl 1, Pp 129-130 (2018)

Background: The genetic etiology of several primary immunodeficiency diseases (PID) remains elusive. Next generation technologies represent a cost-effective and rapid first-line genetic approach for the evaluation of diseases underlying mendelian tra

Externí odkaz: https://doaj.org/article/c28dca86cd9a48b3acdcaca2d8e8606a

Defective formation of IgA memory B cells, Th1 and Th17 cells in symptomatic patients with selective IgA deficiency

Autor: P. Martin van Hagen, Natalia Correa Vargas, Willem A. Dik, Julio César Orrego, Mirjam van der Burg, Christina Grosserichter-Wagener, Alexander Franco-Gallego, Louis Boon, Qiang Pan-Hammarström, José Luis Franco, Virgil A. S. H. Dalm, Jacques J.M. van Dongen, Marco W.J. Schreurs, Jessica Lineth Rojas, Marcela Moncada-Vélez, Lennart Hammarström, Menno C. van Zelm, Fatemeh Ahmadi

Publikováno v: Clinical & Translational Immunology, 9(5). WILEY
Clinical & Translational Immunology, Vol 9, Iss 5, Pp n/a-n/a (2020)
Clinical & Translational Immunology, 9(5):e1130. John Wiley & Sons Inc.
Clinical & Translational Immunology

Objective Selective IgA deficiency (sIgAD) is the most common primary immunodeficiency in Western countries. Patients can suffer from recurrent infections and autoimmune diseases because of a largely unknown aetiology. To increase insights into the p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44e117c606a638d392385f73a8f73f56
http://hdl.handle.net/1887/3182805

A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

Autor: Sergio D. Rosenzweig, José Luis Franco, Andrea Bernasconi, Matías Oleastro, Julie E. Niemela, María Belén Almejún, Carlos Andrés Arango Franco, William Alexander Franco Gallego, Charlotte Cunningham-Rundles, Shubham Goel, Eyal Grunebaum, Ronald Guillermo Peláez Sánchez, Zuhair K. Ballas, Jennifer Stoddard, Silvia Danielian, Hye Sun Kuehn, Thomas A. Fleisher

Publikováno v: J Clin Immunol

The noncanonical NF-κB pathway is implicated in diverse biological and immunological processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 have been recently identified as a cause of immunodeficiency manifesting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f606d8faf7c1fad0b0136308c23f97b4
https://europepmc.org/articles/PMC7567683/

Now ICT malaria Pf/Pv® versus microscopy (thick-smear, thin smear) for diagnosis of malaria in Urabá (Colombia) Now ICT malaria Pf/Pv® frente a microscopía (gota gruesa-extendido) para diagnóstico de malaria en Urabá (Colombia)

Autor: Eliana Arango, Alexander Franco Gallego, Jaime Carmona Fonseca, Olga M. Agudelo, Amanda Maestre

Publikováno v: Iatreia, Vol 23, Iss 2, Pp 137-145 (2010)

Problem: To date, there are only three reports from Colombia about the malaria diagnostic test Now ICT Malaria Pf / Pv ® (NowICT). The results from these studies showed major differences in sensitivity and specificity. Objective: To evaluate the dia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::38f6e56368177d6e79ac2e7226d42ca6
http://www.iatreia.udea.edu.co/index.php/iatreia/article/view/1335