Selected Recent Publications

ME Horesh, M Martinez-Fernandez, C Gruber, S Buta, T Le Voyer, E Puzenat, H Lesmana, Y Wu, A Richardson, D Stein, S Hodeib, M Youssef, JA. Kurowski, E Feuille, LA. Pedroza, RL Fuleihan, A Haseley, A Hovnanian, P Quartier, J Rosain, G Davis, D Mullan, O Stewart, R Patel, A E Lee, R Rubinstein1, L Ewald, N Maheshwari, V Rahming, IK Chinn, JR Lupski, JS Orange, V Sancho-Shimizu, JL Casanova, NS Abul-Husn, Y Itan, JD Milner*, JC Bustamante* and D Bogunovic. Gain of function variants in JAK1 cause autoimmunity, atopy, colitis, and/or dermatitis (JAACD syndrome). Nature Communications, in press

K Baysac, G Sun, H Nakano, EG Schmitz, C Fisher, AC Bailey, PLCG2-Immune Dysregulation Working Group, E Mace, JD Milner*, and M. Ombrello*. PLCG2 associated antibody deficiency and immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants. J Allergy Clin Immunol in press

Baghdassarian H, Blackstone SA, Clay OS, Philips R, Matthiasardottir B, Nehrebecky M, Hua VK, McVicar R, Liu Y, Tucker SM, Randazzo D, Deuitch N, Rosenzweig S, Mark A, Sasik R, Fisch KM, Pimpale Chavan P, Eren E, Watts NR, Ma CA, Gadina M, Schwartz DM, Sanyal A, Werner G, Murdock DR, Horita N, Chowdhury S, Dimmock D, Jepsen K, Remmers EF, Goldbach-Mansky R, Gahl WA, O'Shea JJ, Milner JD, Lewis NE, Chang J, Kastner DL, Torok K, Oda H, Putnam CD, and Broderick L. Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome. N Engl J Med. 2023 Jun 15;388(24):2241-2252.

Son A, Meylan F, Gomez-Rodriguez J, Kaul Z, Sylvester M, Falduto GH, Vazquez E, Haque T, Kitakule MM, Wang C, Manthiram K, Qi CF, Cheng J, Gurram RK, Zhu J, Schwartzberg P, Milner JD*, Frischmeyer-Guerrerio PA*, Schwartz DM*. Dynamic chromatin accessibility licenses STAT5- and STAT6-dependent innate-like function of TH9 cells to promote allergic inflammation. Nat Immunol. 2023 Jun;24(6):1036-1048.

Hoshino A, Boutboul D, Zhang Y, Kuehn HS, Hadjadj J, Özdemir N, Celkan T, Walz C, Picard C, Lenoir C, Mahlaoui N, Klein C, Peng X, Azar A, Reigh E, Cheminant M, Fischer A, Rieux-Laucat F, Callebaut I, Hauck F, Milner J*, Rosenzweig SD*, Latour S. Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation. Sci Immunol. 2022 Mar 25;7(69):eabi7160.

Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, …. STAT3 GOF Working Group members; Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095.

Rae W, Sowerby JM, Verhoeven D, Youssef M, Kotagiri P, Savinykh N, Coomber EL, Boneparth A, Chan A, Gong C, Jansen MH, du Long R, Santilli G, Simeoni I, Stephens J, Wu K, Zinicola M, Allen HL, Baxendale H, Kumararatne D, Gkrania-Klotsas E, Scheffler Mendoza SC, Yamazaki-Nakashimada MA, Ruiz LB, Rojas-Maruri CM, Lugo Reyes SO, Lyons PA, Williams AP, Hodson DJ, Bishop GA, Thrasher AJ, Thomas DC, Murphy MP, Vyse TJ, Milner JD, Kuijpers TW, Smith KGC. Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations. Sci Immunol. 2022 Aug 12;7(74):eabn3800.

Schwartz DM, Kitakule MM, Dizon BL, Gutierrez-Huerta C, Blackstone SA, Burma AM, Son A, Deuitch N, Rosenzweig S, Komarow H, Stone DL, Jones A, Nehrebecky M, Hoffmann P, Romeo T, de Jesus AA, Alehashemi S, Garg M, Torreggiani S, Montealegre Sanchez GA, Honer K, Souto Adeva G, Barron KS, Aksentijevich I, Ombrello AK, Goldbach-Mansky R, Kastner DL, Milner JD*, Frischmeyer-Guerrerio P*. Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features. Ann Rheum Dis. 2021

Eisenberg, R., M.D. Gans, T.R. Leahy, F. Gothe, C. Perry, M. Raffeld, L. Xi, S. Blackstone, C. Ma, S. Hambleton, and JD Milner. 2021. JAK inhibition in early-onset somatic, nonclonal STAT5B gain-of-function disease. J Allergy Clin Immunol Pract 9:1008-1010.e1002.

Lev, A., Y.N. Lee, G. Sun, E. Hallumi, A.J. Simon, K.S. Zrihen, S. Levy, T. Beit Halevi, M. Papazian, N. Shwartz, I. Somekh, S. Levy-Mendelovich, B. Wolach, R. Gavrieli, H. Vernitsky, O. Barel, E. Javasky, T. Stauber, C.A. Ma, Y. Zhang, N. Amariglio, G. Rechavi, A. Hendel, D. Yablonski, JD Milner*, and R. Somech*. 2021. Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects. J Exp Med 218(3):e20201062

Cheung EW, Zachariah P, Gorelik M, Boneparth A, Kernie SG, Orange JS, Milner JD. Multisystem Inflammatory Syndrome Related to COVID-19 in Previously Healthy Children and Adolescents in New York City. JAMA. 2020 Jul 21;324(3):294-296

Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gürel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavaré S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD*, Thaventhiran JED. Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. J Exp Med. 2019;216(9): 1986-1998

Milner JD. Primary Atopic Disorders. Annu Rev Immunol. 2020 Apr 26;38:785-808.