Neil David Romberg MD
Assistant Professor of Pediatrics (Immunology)
Molecular mechanisms of primary immune deficiency diseases,
Autoimmune manifestations of Common Variable Immune Deficiency,
Smith-Magenis Syndrome related immune deficiency,
Newborn screening for immune deficiency
Patients with primary (inherited) immune deficiencies are an underserved patient population at enormous risk of premature death and disability. Although strides have been made in the diagnosis and prevention of infections in these patients, they continue to suffer a high frequency of autoimmune diseases, a phenomenon that is now a major driver of mortality. The goal our work is to approach this under-addressed issue directly through a patient-centered approach.
- Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M,
Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J,
Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE,
Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014 Aug 20;312(7):729-38
- Romberg N, Chamberlain N, Saadoun D, Gentile M, Kinnunen T, Ng Y-S, Virdee M, Menard L, Cantaert T, Morbach H, Rachid R, Martinez-Pomar N, Matamoros N, Geha R, Grimbacher B, Cerutti A, Cunningham-Rundles C, Meffre: TACI mutations associated with CVID affect autoreactive B-cell selection and activation. J Clin Invest. 2013; Oct 1;123(10):4283-4293.
- Romberg N, Morbach H, Lawrence M, Kim S, Kang I, Holland S, Milner J, Meffre E. Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival. Journal of Allergy and Clinical Immunology. 2013; 131(6): 1691-1993
- Ombrello M, Remmers E, Sun G, Freeman A, Datta S, Torabi-Parizi P, Subramanian N, Bunney T, Baxendale R, Romberg N, Komarow H, M.D., Aksentijevich I, Kim H, Ho J, Cruse G, Jung M, Gilfillian A, Metcalfe D, Nelson C, O'Brien M, Wisch L, Stone K, Douek D, Gandhi C, Wanderer A, Lee H, Nelson S, Shianna K, Cirulli E, Goldstein D, Long, Moir S, Meffre E, Holland S, Kastner D, Katan M, Hoffman H, and Milner J. Cold Urticaria, Immune Deficiency and Autoimmunity Due to PLCg2 Deletions. The New England Journal of Medicine. 2012; 366(4): 330-338
- Romberg N, Ng YS, Cunningham-Rundles C, Meffre E: Common variable immunodeficiency patients with increased CD21-/lo B cells suffer from altered receptor editing and defective central B cell tolerance. Blood. 2011; 118(22): 5977-5978