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Plos One|August 3, 2017
High-resolution phenotyping identifies NK cell subsets that distinguish healthy children from adultsSanjana Mahapatra, Emily M Mace, Charles G Minard, et al.
The Journal of Allergy and Clinical Immunology|October 11, 2019
Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic functionAlexander Vargas-Hernández, Agnieszka Witalisz-Siepracka, Michaela Prchal-Murphy, et al.
Hospital Pediatrics|March 3, 2022
Severe Pediatric COVID-19 Pneumonia Treated With Adjuvant AnakinraLeigh A Stubbs, Vibha Szafron, Lisa R Forbes, et al.
The Journal of Allergy and Clinical Immunology|February 1, 2017
Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutationKatja G Weinacht, Louis-Marie Charbonnier, Fayhan Alroqi, et al.
Frontiers in Pediatrics|August 17, 2019
Novel Heterozygous Mutation in <i>NFKB2</i> Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic SyndromeAlejandra Aird, Macarena Lagos, Alexander Vargas-Hernández, et al.
The Journal of Allergy and Clinical Immunology|January 14, 2018
Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatmentRaquel Ruiz-García, Alexander Vargas-Hernández, Ivan K Chinn, et al.
The Journal of Allergy and Clinical Immunology|February 6, 2025
Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiencyManar Abdalgani, Evelyn R Hernandez, Luis A Pedroza, et al.
The Journal of Allergy and Clinical Immunology|November 8, 2017
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutationsAlexander Vargas-Hernández, Emily M Mace, Ofer Zimmerman, et al.
The Journal of Allergy and Clinical Immunology. in Practice|May 25, 2021
A Toolkit and Framework for Optimal Laboratory Evaluation of Individuals with Suspected Primary ImmunodeficiencyVijaya Knight, Jennifer R Heimall, Hey Chong, et al.
The Journal of Clinical Investigation|June 3, 2020
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AIDMarcel Kuhny, Lisa R Forbes, Elif Çakan, et al.
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