Unraveling the Enigma of Immune Disease and Allergic Disorders

Close-up of little boy's desensitization testing

Department of Pediatrics Annual Report – 2022

Allergy, Immunology, and Rheumatology

Department of Pediatric Annual Report 2022 Banner

The past four years have been transformative for the Division of Allergy, Immunology, and Rheumatology. The division now includes some of the best-known names in caring for children with allergy, immune-related, or autoimmune-related diseases. These leaders in the field have created new laboratories and research programs while providing expert diagnoses and care to children and families, many of whom have long sought an identification of a chronic illness.

NewYork-Presbyterian Morgan Stanley Children’s Hospital now serves as a referral center for other children’s hospitals and has the expertise and resources to diagnose and care for the most complex patients. Our physicians share their knowledge as chairs of numerous national committees, create and participate in patient registries, author innumerable publications, and participate on editorial and scientific advisory boards.

Clinical Services

We provide consultative inpatient and outpatient expertise for initial diagnoses, second opinions, immunologic and autoimmune testing, and genetic testing, as well as expert medical care.

Allergy and Immunology

  • We offer the latest diagnostic and treatment options for food allergies and are committed to developing new therapeutics and best practices.
  • Through our NYS Severe Combined Immunodeficiency (SCID) Program newborn screening program, we identify newborns with SCID at the earliest possible moment.
  • Members of our specialized program in primary immunodeficiency use state-of-the-art measures to diagnose and treat infants and children with congenital immunodeficiencies.
  • The Natural Killer Cell Evaluation and Research Clinic (NEAR) offers diagnosis, evaluation, testing, and access to research studies for infants, children, and adults with suspected natural killer (NK) cell deficiency diseases and other primary immunodeficiency diseases.
  • Division members have special clinical and research interests in primary atopic disorders and other genetic diseases that lead to allergy or immune dysregulation.
  • In collaboration with Columbia’s Institute for Genomic Medicine, the division’s immunogenetics program brings together leading scientific and clinical perspectives to end the diagnostic odyssey for those struggling with immune disease.
  • Columbia has been designated a 2022 World Allergy Organization Center of Excellence.
  • In 2020 Columbia was designated one of the few Jeffrey Modell Diagnostic and Research Centers globally. Dr. Joshua Milner serves as director.

Rheumatology

Our rheumatology team cares for children with a full range of rheumatic and autoimmune diseases and collaboratively cares for patients with the most complex conditions. Through our specialized program in pediatric amplified musculoskeletal pain syndrome, we develop individualized, comprehensive, and patient-centered treatment plans for children and adolescents with chronic musculoskeletal pain conditions.

Research

The division is involved in several areas of research and participates in clinical trials, most actively in the causes, mechanisms, and treatment of asthma, allergies, food allergies, juvenile arthritis, and primary immune deficiencies. Our program is also one of the few funded research programs on Kawasaki disease. Investigators in our program have received support from the National Institutes of Health and other organizations for more than two decades and publish in journals including New England Journal of Medicine, Nature, Journal of the American Medical Association, The Lancet, Up-to-Date, Journal of Allergy and Clinical Immunology, and Journal of Clinical Investigation.

Education

We offer outstanding training in allergy, immunology, and rheumatology to fellows, residents, and medical students. The Allergy and Immunology Fellowship leads to certification by the American Board of Allergy & Immunology.

New Appointments

Promotions

Honors and Awards

Joel Brooks, DO

  • Appointed a Fellow of the American College of Physicians (FACP)

Ramsay Fuleihan, MD

  • Completed Six-Year Term as Member of the Board of Directors of the American Board of Allergy and Immunology (2016-2022)

Emily Mace, PhD

  • Co-Chair of Women in Cell Biology Committee for the American Society for Cell Biology
  • VP&S Schaefer Research Scholar

Joshua Milner, MD

  • David W. Talmage Lectureship Award, 2022 Aspen Allergy Conference
  • Co-Chair, Federation of Clinical Immunology Societies 2022 Annual Meeting

  • Elected to the American Pediatric Society

Jordan Scott Orange, MD, PhD

  • Named to the 2022 Crain's Notable Healthcare Leaders List

Major Grants

  • Exacerbated expression of cytotoxic genes in the PLNs of T1D patients. Leona Helmsley Charitable Trust. U Miami. CU19-0311. Principal Investigator: Remi Creusot, PhD; Principal Investigator: Emily Mace, PhD.
  • Defining the role of cell migration in human NK cell differentiation. NIH/National Institute of Allergy and Infectious Diseases. R01 AI137073. Principal Investigator: Emily Mace, PhD.
  • Determining the role of the replicative helicase in human NK cell development. NIH/National Institute of Allergy and Infectious Diseases. R01AI137275. Principal Investigator: Emily Mace, PhD.
  • Composition and structure of antibody receptors at the surface of primary human cells during immune activation; U Georgia UGA. SUB00002365 Principal Investigator: Adam Barb, PhD; Co-Investigator: Emily Mace, PhD.
  • NYC primary immunodeficiency and errors of immunity symposium. Takeda. Takeda IME-007439. Principal Investigator: Emily Mace, PhD.
  • Directing function at the natural killer cell secretory immunological synapse, NIH/National Institute of Allergy and Infectious Diseases. R01AI067946. Principal Investigator: Jordan Orange, MD, PhD.
  • Genetic, immunologic and mechanistic basis of human NK cell deficiency. NIH/National Institute of Allergy and Infectious Diseases. R01AI120989. Principal Investigator: Jordan Orange, MD, PhD.
  • The AAAAI Foundation & Richard F. Lockey, MD, MS, FAAAAI & USF A/I Program Faculty Development Award. Principal Investigator: Mark Gorelik, MD.
  • The role of fibroblast specific STAT3 expression in pneumatocele development and gastrointestinal perforation in AD-HIES. Job Research Foundation. Principal Investigator: Mark Gorelik, MD.
  • The role of follistatin like protein 1 in the cardiac inflammation of Kawasaki disease. NHLBI K08 award. Principal Investigator: Mark Gorelik, MD.
  • 2022 Rheumatology Research Foundation Career Development Bridge Funding Award: K Supplement. Rheumatology Research Foundation. Principal Investigator: Mark Gorelik, MD.
  • Clinical Research Center New York (CAUSE-CRC). NIAID CAUSE. U01AI160075. Principal Investigator: Meyer Kattan, MD; Multi-Principal Investigator: Joshua Milner, MD.
  • Systemic allergic reactions to SARS-COV-19 vaccination (SARS vaccination) trial. NIH/NIAID. 2UM1AI109565-08. Principal Investigator: Magdalena Sobieszczyk, MD; Co-Investigator: Joshua Milner, MD; Allergist Specialist: Joyce Yu, MD.
  • Safety and efficacy of Itacitinib in treatment of JAK/STAT gain of function disorders. NIH/NCATS. 1UG3TR003908. Principal Investigator: Forbes-Satter, MD; Co-Investigator: Joshua Milner, MD.
  • Broadening our collective understanding of inborn errors of immunity – a new disorder caused by loss-of-function variants in OSMR. Jeffrey Modell Foundation Translational Research Program. Principal Investigator: Stuart Turvey, MBBS, DPhil; Co-Investigator: Joshua Milner, MD.
  • Luka Shai Foundation, LLC. Principal Investigator: Joshua Milner, MD.
  • USIDNET: A resource for clinical immunologists. NIH/NIAID, 1R24AI171055-01A1. Principal Investigator: Kathleen Sullivan, MD, PhD; Co-Investigator: Ramsay Fuleihan, MD.
  • CISA Clinical Vaccine Safety Evaluation Columbia University Contributing Contractor. Principal Investigator: Melissa Stockwell, MD; Subject Matter Expert: Joel Brooks, DO.
  • NIH Recover: A multi-site observational study of post-acute sequelae of SARS-CoV-2 infection in pediatric populations. OT2HL161847-01. Principal Investigator: Melissa Stockwell, MD; Principal Investigator: Joshua Milner, MD.
  • Pathobiological mechanisms underpinning the clinical phenotypes, symptomatic. Principal Investigator: Thomas Connors, MD; Co-Investigator: Joshua Milner, MD.
  • VZV in the enteric nervous system: pathogenesis and consequence. Principal Investigator: Anne Gershon, MD; Co-Investigator: Joshua Milner, MD.
  • Functional immune responses in children with post-acute sequelae SARS-CoV-2 infection. NIH/NHLBI. Co-Investigator: Joshua Milner, MD.
  • A multicenter, open-label, single-group clinical trial to assess the pharmacokinetics, safety and efficacy of Nemolizumab (CD14152) in pediatric subjects (aged 2 to 11 years) with moderate-to-severe atopic dermatitis. Galderma Research & Development. RD.06.SPR.118126. Principle Investigator: Joyce Yu, MD.  
  • Development of lung T cell responses in infant respiratory immunity. U01AI100119. Principal Investigator: Donna Farber, PhD; Co-Investigator: Joshua Milner, MD.
  • COVID-19 CISA clinical vaccine safety evaluation. CDC. 200-2012-53665. Principal Investigator: Philip Larussa, MD; Co-Investigator: Joshua Milner, MD.

Selected Publications

Hartono SP, Sharma HP, Bundy V, Thompkins JD, Kochis SR, Brooks JP. Safety outcomes of SARS-CoV-2 vaccination in pediatric patients with a first dose reaction history or allergy to polyethylene glycol or polysorbate. J Allergy Clin Immunol Pract. 2022;10(8):2172-2175.e1. doi: 10.1016/j.jaip.2022.05.035. Epub 2022 Jul 13. PMID: 35842413; PMCID: PMC9277098.

Syed MN, Kutac C, Miller JM, Marsh R, Sullivan KE, Cunningham-Rundles C, Fuleihan RL, Kheradmand F, Hajjar J. Risk factors of pneumonia in primary antibody deficiency patients receiving immunoglobulin therapy: Data from the US Immunodeficiency Network (USIDNET). J Clin Immunol. 2022;42(7):1545–1552. doi: 10.1007/s10875-022-01317-2. PMID: 35779201.

M Gorelik, SA Chung, K Ardalan, BA Binstadt, K Friedman, K Hayward, et. Al. 2021 American College of Rheumatology/Vasculitis Foundation guideline for the management of Kawasaki disease. Arthritis Care Res (Hoboken). 2002;74(4):538–548.

Salinas SA, Mace EM, Conte MI, Park CS, Li Y, Rosario-Sepulveda JI, Mahapatra S, Moore EK, Hernandez ER, Chinn IK, Reed AE, Lee BJ, Frumovitz A, Gibbs RA, Posey JE, Forbes Satter LR, Thatayatikom A, Allenspach EJ, Wensel TG, Lupski JR, Lacorazza HD, Orange JS. An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022;7(23):e155481. doi: 10.1172/jci.insight.155481. PMID: 36477361.

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. Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. JCI Insight. 2022;7(21):e154948. doi: 10.1172/jci.insight.154948. PMID: 36345943; PMCID: PMC9675456.

Mace EM. Profiling natural killers in COVID-19. J Allergy Clin Immunol. 2022;149(4):1223–1224. doi: 10.1016/j.jaci.2022.01.002. PMID: 35051507; PMCID: PMC8761581.

DiLorenzo MP, Farooqi KM, Shah AM, Channing A, Harrington JK, Connors TJ, Martirosyan K, Krishnan US, Ferris A, Weller RJ, Farber DL, Milner JD, Gorelik M, Rosenzweig EB, Anderson BR; Columbia University Interdisciplinary Multisystem Inflammatory Syndrome in Children Follow-up Program and the Columbia University Irving Medical Center Pediatric/Adult Congenital Heart Research Collaborative. Ventricular function and tissue characterization by cardiac magnetic resonance imaging following hospitalization for multisystem inflammatory syndrome in children: A prospective study. Pediatr Radiol. 2022 Oct:1–10. doi: 10.1007/s00247-022-05521-5. Epub ahead of print. PMID: 36255453; PMCID: PMC9579624.

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, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suegeorgz D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; 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. 2022 Oct:S0091-6749(22)01182-4. doi: 10.1016/j.jaci.2022.09.002. Epub ahead of print. PMID: 36228738.

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 <i>TRAF3</i> mutations. Sci Immunol. 2022;7(74):eabn3800. doi: 10.1126/sciimmunol.abn3800. Epub 2022 Aug 12. PMID: 35960817.

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 <i>IKZF1</i> variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation. Sci Immunol. 2022;7(69):eabi7160. doi: 10.1126/sciimmunol.abi7160. Epub 2022 Mar 25. PMID: 35333544.

Highlights

How to Boost Your Immunity

From diet to sleep to physical activity, Joshua Milner, MD, professor of pediatrics at VP&S and director of the Division of Pediatric Allergy, Immunology, and Rheumatology, discusses the research on how to keep your immune system strong.

CUIMC News

Podcast: Updates on Kawasaki Disease

Pediatric rheumatologist Mark Gorelik, MD, lead author of the 2021 guidelines for the management of Kawasaki disease released by the American College of Rheumatology (ACR), discusses the guidelines on this July 2022 episode of "ACR on Air."

Listen to ACR on Air

Webinar: What Pediatricians and Families Should Know About Gene Therapy Today

gene_therapy_today_what_pediatricians_and_families_should_know

Joshua Milner, MD, participated in a June 2022 panel discussion about novel gene therapies now in clinical trials for a spectrum of diseases, including thalassemia, sickle cell anemia, hemophilia, and immune-deficiency disorders.