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Frontiers in Pediatrics|February 6, 2019
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the LiteratureAidé Tamara Staines Boone, Ivan K Chinn, Carmen Alaez-Versón, et al.
JCI Insight|December 8, 2022
An ELF4 hypomorphic variant results in NK cell deficiencySandra Andrea Salinas, Emily M Mace, Matilde I Conte, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|April 10, 2018
High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous DiseaseAsaf D Yanir, Imelda C Hanson, William T Shearer, et al.
The Journal of Allergy and Clinical Immunology|August 4, 2016
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencingHui Yu, Victor Wei Zhang, Asbjørg Stray-Pedersen, et al.
The Journal of Allergy and Clinical Immunology|April 26, 2022
STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasisSimon J Pelham, Maria Soledad Caldirola, Danielle T Avery, et al.
American Journal of Human Genetics|May 29, 2018
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory SyndromeM Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, et al.
The Journal of Clinical Investigation|June 9, 2026
Aberrant STAT signaling and T cell dysregulation define a targetable pediatric sepsis endotypeRobert B Lindell, Samir U Sayed, Jose S Campos Duran, et al.
The Journal of Allergy and Clinical Immunology|December 2, 2024
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4<sup>+</sup> IL-9-expressing cellsGeetha Rao, Corinne D Mack, Tina Nguyen, et al.
The Journal of Allergy and Clinical Immunology|July 30, 2021
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disordersLisa R Forbes, Olive S Eckstein, Nitya Gulati, et al.
Biorxiv : the Preprint Server for Biology|December 23, 2024
Altered Purinergic Signaling and CD8+ T Cell Dysregulation in STAT3 GOF SyndromeJose S Campos Duran, Samir Sayed, Megan C Dalalo, et al.
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