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Frontiers in Pediatrics|April 4, 2017
A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary ImmunodeficienciesJuan Carlos Aldave Becerra, Enrique Cachay Rojas
Clinical Case Reports|October 11, 2021
Cow's milk allergy non-responsive to amino acid-based formula? A successful transplanted patient with immune dysregulation, polyendocrinopathy, enteropathy, and X-linked syndromeLiz Veramendi-Espinoza, Claudia Alejandra Rentería-Valdiviezo, Roxana Díaz-Subauste, et al.
JCI Insight|November 8, 2022
Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropeniaMatilde I Conte, M Cecilia Poli, Angelo Taglialatela, et al.
The World Allergy Organization Journal|March 11, 2016
International survey on skin patch test procedures, attitudes and interpretationLuciana K Tanno, Razvigor Darlenski, Silvia Sánchez-Garcia, et al.
Journal of Clinical Immunology|October 22, 2024
The Latin American Society for Immunodeficiencies RegistryGisela Seminario, Maria Edith Gonzalez-Serrano, Carolina Sanchez Aranda, et al.
The American Journal of Tropical Medicine and Hygiene|April 24, 2020
All together to Fight COVID-19Sara Momtazmanesh, Hans D Ochs, Lucina Q Uddin, et al.
Blood|April 27, 2016
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotypeJulie Toubiana, Satoshi Okada, Julia Hiller, et al.
Advances in Experimental Medicine and Biology|May 11, 2021
Socialization During the COVID-19 Pandemic: The Role of Social and Scientific Networks During Social DistancingSara Momtazmanesh, Noosha Samieefar, Lucina Q Uddin, et al.
Journal of Clinical Immunology|August 14, 2021
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous CandidiasisNatalie Frede, Jessica Rojas-Restrepo, Andrés Caballero Garcia de Oteyza, et al.
Journal of Human Immunity|October 27, 2025
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridgingEmilie Pauline Buddingh, Mary Slatter, Juan Carlos Aldave Becerra, et al.
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