Research and Scholarly Activity
Translational and Basic Science Research in ImmunologySeveral faculty engage in translational and basic science research on the pathomechanisms, diagnostic and novel treatment strategies for immune dysregulation in primary immunodeficiencies.
Dr. Jolan Walter’s group focuses on T and B cell dysregulation and tolerance checkpoints in variants of severe combined immunodeficiencies (SCID) with mutation of the recombination activating gene (RAG) in human and animal studies. Translational studies include the genetics of autoimmune cytopenias and national genetic screen for WHIM (warts, hypogammaglobilinemia, infections and myelokathexis) syndrome. Our research team is committed to promote targeted therapies in primary immunodeficiencies and immune dysregulation and bone marrow transplant and gene therapy for variants of SCID and combined immunodeficiencies.
Dr. Leiding is a national expert in the diagnosis and treatment of chronic granulomatous disease and primary immunodysregulatory diseases specifically STAT1 and STAT3 gain‐of‐function. She is Co‐lead of the Primary Immunodeficiency Treatment Consortium Protocol 6908: “Prospective Analysis of Auto‐Inflammation in Chronic Granulomatous Disease Patients Undergoing Hematopoietic Cell Transplantation.” Dr. Leiding’s lab focuses on mechanistic studies to identify the etiology and investigate the mechanisms of auto‐inflammation in chronic granulomatous disease and other primary immunodysregulatory diseases. Dr. Leiding also leads national and international efforts to develop mechanism based precision therapy and transplant strategies for treatment of STAT1 and STAT3 gain‐of‐function and other diseases of immunedysregulation.
Carla Duff, CPNP-PC MSN CCRP IgCN is a national expert in Ig replacement therapy. She has served as a co-investigator on various research protocols and has been the recipient of four unrestricted research grants. Ms. Duff has been published over 30 times including multiple abstracts and publications in primary immune deficiency as well as co-authoring a nursing guide and subcutaneous immunoglobulin review. Ms. Duff is Adjunct Clinical Faculty at the University of South Florida College of Nursing. Ms. Duff is currently the president of the International Nurses Group in Immunodeficiency (INGID), immediate past chair of the Immune Deficiency Foundation Nurse Advisory Committee (IDF NAC), the immediate past chair of the credentialing committee of the American Academy of Allergy Asthma and Immunology (AAAAI), a program committee member for the Immunoglobulin National Society, and is a member the National Association of Pediatric Nurse Practitioners (NAPNAP).
Our Allergy & Immunology Division is actively engaged in a number of pharmaceutical Phase III and Phase IV clinical trails leading to FDA approval for new immunoglobulin produces (both IVIG and SCIg) or changes in packet insert labeling. Our Division is also involved with studies in food allergy research.
- Geier, C.B., Kraupp, S., Bra, D., Eibl, M.M., Farmer, J.R., Csomos, K., Walter, J.E., Wolf, H.M. (2017). Reduced numbers of circulating group 2 innate lymphoid cells in patients with common variable immunodeﬁciency. European Journal of Immunology. PubMed PMID: 28718914. July 2017
- Dobbs, K., Tabellini, G., Calzoni, E., Patrizi, O., Martinez, P., Giliani, S.C., Moratto, D., Al-Herz, W., Cancrini, C., Cowan, M., Bleesing, J., Booth, C., Buchbinder, D., Burns, S.O., Chatila, T.A., Chou, J., Daza-Cajigal, V., Ott De Bruin, L.M., de la Morena, M.T., Di Matteo, G., Finocchi, A., Geha, R., Goyal, R., Hayward, A., Holland, S., Huang, C.H., Kanariou, M.G., King, A., Kaplan, B., Kleva, A., Kuijpers, T., Lee, B.W., Lougaris, V., Massaad, M., Meyts, I., Morsheimer, M., Neven, B., Pai, S.Y., Plebani, A., Prockop, S., Reisli, I., Soh, Y., Somech, R., Torgerson, T.R., Kim, Y.J., Walter, J.E., Gennery, A.R., Keles, Ss, Manis, J.M., Marcenaro, E., Moretta, A., Parolini, S., Notarangelo, L.D. (2017). NK cells from patients with RAG and non-homologous end joining (NHEJ) gene defects comprise a higher frequency of CD56bright NKG2A+++ cells, and yet display increased degranulation and higher perforin content. Frontiers in Immunology. 8:798 PubMed PMID: 28769923. July 2017
- Rowe, J.H., Stadinski, B.D., Lauren, A.H., Ott de Bruin, L., Delmonte, O., Lee, Y.N., de la Morena, M.T., Rakesh, K.G., Hayward, A., China-Hui, H., Kanariou, M., King, A., Kuijpers, T.W., Soh, J.Y., Neven, B., Walter, J.E., Huseby, E.S., Notarangelo, L.D. (2017). Abnormalities of T cell receptor repertoire in CD4+ regulatory and conventional T cells in patients with RAG mutations: implications for autoimmunity. J Allergy Clin Immunol. PubMed PMID: 28864286
- Westermann-Clark E, Grossi A, Fioredda F, Giardino S, Cappelli E, Terranova P, Palmisani E, Farmer JR, Foldvari Z, Yamazaki Y7, Faraci M, Lanino E, Notarangelo LD, Dufour C, Ceccherini I, Walter JE*, Miano M.* (*shared senior co-authors) (2017). RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant. Clinical Immunology PubMed PMID: 29104089. November 2017
- Farmer J.R., Ong M.S., Barmettler S, Yonker L.M., Fuleihan R., Sullivan K.E., Cunningham-Rundles C., Walter J.E. (2018). Common variable immunodeficiency (CVID) non-infectious disease endotypes redefined using unbiased network clustering in large electronic datasets. Frontiers of Immunology PubMed PMID: 29375540 January 2018
- Tirosh I, Yamazaki Y, Frugoni F, Ververs FA, Allenspach EJ, Zhang Y, Burns S, Al-Herz W, Noroski L, Walter JE, Gennery AR, van der Burg M, Notarangelo LD, Lee YN. (2018) Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype. J Allergy Clin Immunol. PubMed PMID: 29772310. May 2018
- Miggelbrink AM, Logan BR, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Abdel-Azim H, Prockop SE, Shyr D, Decaluwe H, Hanson IC, Gillio A, Dávila Saldaña BJ, Eibel H, Hopkins G, Walter JE, Whangbo JS, Kohn DB, Puck JM, Cowan MJ, Griffith LM, Haddad E, O'Reilly RJ, Notarangelo LD, Pai SY. (2018) B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation. Blood PubMed PMID: 29728406. May 2018
- Lawless D, Geier CB, Farmer JR, Lango Allen H, Thwaites D, Atschekzei F, Brown M, Buchbinder D, Burns SO, Butte MJ, Csomos K, Deevi SVV, Egner W, Ehl S, Eibl MM, Fadugba O, Foldvari Z, Green DM, Henrickson SE, Holland SM, John T, Klemann C, Kuijpers TW, Moreira F, Piller A, Rayner-Matthews P, Romberg ND, Sargur R, Schmidt RE, Schröder C, Schuetz C, Sharapova SO, Smith KGC, Sogkas G, Speckmann C, Stirrups K, Thrasher AJ, Wolf HM, Notarangelo LD, Anwar R, Boyes J, Ujhazi B; NIHR BioResource–Rare Diseases Consortium, Thaventhiran J, Walter JE*, Savic S* (*shared senior co-authors) (2018) Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. J Allergy Clin Immunol. PubMed PMID: 29477728 March 2018
- Goda V, Malik A, Kalmar T, Maroti Z, Patel B, Ujhazi B, Csomos K, Hale JE, Chen K, Bleesing J, Palma P, Cancrini C, Comeau AM, Krivan G, Walter JE. (2018) Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies. J Allergy Clin Immunol Pract. PubMed PMID: 29410113 Feb. 2018
- Leiding JW. Neutrophil Evolution and Their Diseases in Humans. Front. Immunol. PubMed PMID: 28894446 Aug.2017
- Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, Lindemans C, Petrovic A, Sullivan KE, Bunin N, Kilic SS, Arpaci F, Calle-Martin O, Martinez-Martinez L, Aldave JC, Kobayashi M, Ohkawa T, Imai K, Iguchi A, Roifman CM, Gennery AR, Slatter M, Ochs HD, Morio T, Torgerson TR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium. Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations. J Allergy Clin Immunol. PubMed PMID: 28601685 2018 Feb
- Alshekaili J, Chand R, Lee CE, Corley S, Kwong K, Papa I, Fulcher DA, Randall KL, Leiding JW, Ma CS, Wilkins MR, Uzel G, Goodnow CC, Vinuesa CG, Tangye SG, Cook MC. STAT3 regulates cytotoxicity of human CD57+ CD4+ T cells in blood and lymphoid follicles. Sci Rep. 2018 Feb 23 PubMed PMID: 29476109
- Leiding JW, Ballow M. Precision medicine in the treatment of primary immunodeficiency diseases Curr Opin Allergy Clin Immunol. 2018 Apr; 18 PubMed PMID:29406361
- Vargas-Hernández A, Mace EM, Zimmerman O, Zerbe CS, Freeman AF, Rosenzweig S, Leiding JW, Torgerson T, Altman MC, Schussler E, Cunningham-Rundles C, Chinn IK, Carisey AF, Hanson IC, Rider NL, Holland SM, Orange JS, Forbes LR. Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations. J Allergy Clin Immunol. 2018 Jun; PMID: 29111217
- Ballow M, Wasserman RL, Jolles S, Chapel H, Berger M, Misbah SA. Assessment of Local Adverse Reactions to Subcutaneous Immunoglobulin (SCIG) in Clinical Trials. J Clin Immunol. 2017 Aug PubMed PMID: 28695366
- Albin-Leeds S, Ochoa J, Mehta H, Vogel BH, Caggana M, Bonagura V, Lehman H, Ballow M, Rubinstein A, Siegel S, Weiner L, Weinberg GA, Cunningham-Rundles C. Idiopathic T cell lymphopenia identified in New York State Newborn Screening. Clin Immunol. 2017 Oct; PMID: 28694137
- Ballow M. Practical aspects of immunoglobulin replacement. Ann Allergy Asthma Immunol. 2017 Oct PubMed PMID:28958372
- Ballow M, Paris K, de la Morena M. Should Antibiotic Prophylaxis Be Routinely Used in Patients with Antibody-Mediated Primary Immunodeficiency? J Allergy Clin Immunol Pract. 2018 Mar – Apr 6 PubMed PMID:29274825
- Perez E, Bonilla FA, Orange JS, Ballow M. Corrigendum: Specific Antibody Deficiency: Controversies in Diagnosis and Management. Front Immunol. 2018 Mar PubMed PMID:29576764
- Ballow M, Wasserman RL, Jolles S, Chapel H, Berger M, Misbah SA. Correction to: Assessment of Local Adverse Reactions to Subcutaneous Immunoglobulin (SCIG) in Clinical Trials. J Clin Immunol. 2018 May PubMed PMID:29713933
- Bousfiha AA, Duff C, Hsieh E. Ensuring Access to Immunoglobulin Therapies for People with Primary Immunodeficiency: A Need to Improve Individuals' Quality of Life and the Sustainability of Health-care Systems. Front Immunol. 2017 Sep PubMed PMID:28974952
- Jaffery F, Khan F, Bustillo J. Visual Diagnosis: A 3-week-old Girl with an Unusual Rash. Pediatr Rev. 2017 Sep PubMed PMID: 28864745