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Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
Conte MI, Poli MC, Taglialatela A, Leuzzi G, Chinn IK, Salinas SA, Rey-Jurado E, Olivares N, Veramendi-Espinoza L, Ciccia A, Lupski JR, Aldave Becerra JC, Mace EM, Orange JS. Conte MI, et al. Among authors: orange js. JCI Insight. 2022 Nov 8;7(21):e154948. doi: 10.1172/jci.insight.154948. JCI Insight. 2022. PMID: 36345943 Free PMC article.
Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Horesh ME, et al. Among authors: orange js. J Exp Med. 2024 Jun 3;221(6):e2023238704302024c. doi: 10.1084/jem.2023238704302024c. Epub 2024 May 6. J Exp Med. 2024. PMID: 38709237 Free PMC article. No abstract available.
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Horesh ME, et al. Among authors: orange js. J Exp Med. 2024 Jun 3;221(6):e20232387. doi: 10.1084/jem.20232387. Epub 2024 Apr 2. J Exp Med. 2024. PMID: 38563820
Validating inborn error of immunity prevalence and risk with nationally representative electronic health record data.
Rider NL, Truxton A, Ohrt T, Margolin-Katz I, Horan M, Shin H, Davila R, Tenembaum V, Quinn J, Modell V, Modell F, Orange JS, Branner A, Senerchia C. Rider NL, et al. Among authors: orange js. J Allergy Clin Immunol. 2024 Jan 24:S0091-6749(24)00078-2. doi: 10.1016/j.jaci.2024.01.011. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 38278184
Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.
Alinger JB, Mace EM, Porter JR, Mah-Som AY, Daugherty AL, Li S, Throm AA, Pingel JT, Saucier N, Yao A, Chinn IK, Lupski JR, Ehlayel M, Keller M, Bowman GR, Cooper MA, Orange JS, French AR. Alinger JB, et al. Among authors: orange js. J Allergy Clin Immunol. 2024 Jan;153(1):216-229. doi: 10.1016/j.jaci.2023.09.002. Epub 2023 Sep 13. J Allergy Clin Immunol. 2024. PMID: 37714437
369 results