Physicians

Departments / Divisions

• Pediatrics / Pediatrics-Allergy/Immunology
• Immunology

Address
DUMC 2898
Durham, NC 27710

Appointment Telephone
919-684-2922

Office Telephone
919-684-2922

Fax Telephone
919-681-7979

Training

• MD, University of North Carolina–Chapel Hill School of Medicine, 1958

Residency

• Pediatrics, Duke University Medical Center, 1958-1961

Fellowship

• Pediatric Allergy, Duke University Medical Center, 1961-1963
• Immunology, Duke University Medical Center, 1963-1965

Clinical Interests
All allergic diseases (including asthma, allergic rhinitis, atopic dermatitis, urticaria, anaphylaxis), recurrent infections, primary immunodeficiency (including IgA deficiency, agammaglobulinemia, chronic granulomatous disease, severe combined immunodeficiency, or SCID), bone-marrow transplantation for SCID

Research Interests
The overall emphasis of Dr. Buckley's research is in human T,B and NK cell development and in aberrations in their development and regulation. The work involves three particular areas of investigation: 1) the cellular and molecular bases of genetically-determined human immunodeficiency diseases, 2) the use of bone marrow stem cells to cure genetically-determined immunodeficiency diseases, and 3) the use of human SCID bone marrow stem cell chimeras to study human thymic education, T and B cell ontogeny, tolerance induction and MHC restriction mechanisms. Methodology includes monoclonal antibody (mAb) analyses of lymphocyte phenotypes, a variety of T cell and natural killer (NK) cell functional assays, studies of thymic output by T cell receptor recombination excision circle measurement, studies of T cell diversity by spectratyping, studies of T cell longevity by telomere analysis and assessment of B cell differentiation and function. A unique resource available for her studies is the largest populations of patients with genetically-determined immunodeficiency diseases in the U.S., which includes the largest population in the world of longterm SCID chimeras treated at a single center, some of whom have been studied and followed for more than 30 years. The administration of rigorously T cell depleted haploidentical bone marrow stem cells to SCID recipients without pre-transplant conditioning or post-transplant use of immunosuppressive drugs to prevent GVHD provides an unmanipulated system for studying human thymic education, T and B cell ontogeny, MHC restriction mechanisms and tolerance induction. Studies to identify mutations in patients with primary immunodeficiency are continuing, particularly in those with SCID.

Industry Relationships and Collaborations (What's this?)

This faculty member has no reported relationships with industry.

Representative Publications
Buckley, RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunologic Research: a selective reference to current research and practice. 2011;49:25-43. (2011) Abstract

Sarzotti-Kelsoe, M; Daniell, XG; Whitesides, JF; Buckley, RH. The long and the short of telomeres in bone marrow recipient SCID patients. Immunologic Research: a selective reference to current research and practice. 2011;49:44-48. (2011) Abstract

Buckley, RH. B-cell function in severe combined immunodeficiency after stem cell or gene therapy: a review. Journal of Allergy and Clinical Immunology. 2010;125:790-797. (2010) Abstract

Aiuti, A; Cattaneo, F; Galimberti, S; Benninghoff, U; Cassani, B; Callegaro, L; Scaramuzza, S; Andolfi, G; Mirolo, M; Brigida, I; Tabucchi, A; Carlucci, F; Eibl, M; Aker, M; Slavin, S; Al-Mousa, H; Al Ghonaium, A; Ferster, A; Duppenthaler, A; Notarangelo, L; Wintergerst, U; Buckley, RH; Bregni, M; Marktel, S; Valsecchi, MG; Rossi, P; Ciceri, F; Miniero, R; Bordignon, C; Roncarolo, MG. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. New England Journal of Medicine. 2009;360:447-458. (2009) Abstract

Railey, MD; Lokhnygina, Y; Buckley, RH. Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis. Journal of Pediatrics. 2009;155:834-840.e1. (2009) Abstract

Sarzotti-Kelsoe, M; Win, CM; Parrott, RE; Cooney, M; Moser, BK; Roberts, JL; Sempowski, GD; Buckley, RH. Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras. Blood. 2009;114:1445-1453. (2009) Abstract

Griffith, LM; Cowan, MJ; Kohn, DB; Notarangelo, LD; Puck, JM; Schultz, KR; Buckley, RH; Eapen, M; Kamani, NR; O'Reilly, RJ; Parkman, R; Roifman, CM; Sullivan, KE; Filipovich, AH; Fleisher, TA; Shearer, WT. Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. Journal of Allergy and Clinical Immunology. 2008;122:1087-1096. (2008) Abstract

Atluri, S; Neville, K; Davis, M; Robertson, KA; Marshalleck, FE; O'Malley, DP; Buckley, RH; Nelson, RP. Epstein-Barr-associated leiomyomatosis and T-cell chimerism after haploidentical bone marrow transplantation for severe combined immunodeficiency disease. Journal of Pediatric Hematology/Oncology. 2007;29:166-172. (2007) Abstract

Boyle, JM; Buckley, RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. Journal of Clinical Immunology. 2007;27:497-502. (2007) Abstract

Keller, MD; Chen, DF; Condron, SA; Liu, N; Reinsmoen, NL; Buckley, RH. The effect of natural killer cell killer Ig-like receptor alloreactivity on the outcome of bone marrow stem cell transplantation for severe combined immunodeficiency (SCID). Journal of Clinical Immunology. 2007;27:109-116. (2007) Abstract

Palmer, K; Green, TD; Roberts, JL; Sajaroff, E; Cooney, M; Parrott, R; Chen, DF; Reinsmoen, NL; Buckley, RH. Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency. Journal of Allergy and Clinical Immunology. 2007;120:423-428. (2007) Abstract

Roberts, JL; Lauritsen, JP; Cooney, M; Parrott, RE; Sajaroff, EO; Win, CM; Keller, MD; Carpenter, JH; Carabana, J; Krangel, MS; Sarzotti, M; Zhong, XP; Wiest, DL; Buckley, RH. T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex. Blood. 2007;109:3198-3206. (2007) Abstract

Buckley, RH. Primary immunodeficiency or not? Making the correct diagnosis. Journal of Allergy and Clinical Immunology. 2006;117:756-758. (2006) Abstract

Buckley, RH. Variable phenotypic expression of mutations in genes of the immune system. Journal of Clinical Investigation. 2005;115:2974-2976. (2005) Abstract

Buckley, RH. A historical review of bone marrow transplantation for immunodeficiencies. Journal of Allergy and Clinical Immunology. 2004;113:793-800. (2004) Abstract

Buckley, RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annual Review of Immunology. 2004;22:625-655. (2004) Abstract

Buckley, RH. Pulmonary complications of primary immunodeficiencies. Paediatric Respiratory Reviews. 2004;5 Suppl A:S225-S233. (2004) Abstract

Buckley, RH. The multiple causes of human SCID. Journal of Clinical Investigation. 2004;114:1409-1411. (2004) Abstract

Hale, LP; Buckley, RH; Puck, JM; Patel, DD. Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency. Clinical Immunology. 2004;110:63-70. (2004) Abstract

Markert, ML; Alexieff, MJ; Li, J; Sarzotti, M; Ozaki, DA; Devlin, BH; Sempowski, GD; Rhein, ME; Szabolcs, P; Hale, LP; Buckley, RH; Coyne, KE; Rice, HE; Mahaffey, SM; Skinner, MA. Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. Journal of Allergy and Clinical Immunology. 2004;113:734-741. (2004) Abstract

O'Shea, JJ; Husa, M; Li, D; Hofmann, SR; Watford, W; Roberts, JL; Buckley, RH; Changelian, P; Candotti, F. Jak3 and the pathogenesis of severe combined immunodeficiency. Molecular Immunology. 2004;41:727-737. (2004) Abstract

Roberts, JL; Lengi, A; Brown, SM; Chen, M; Zhou, YJ; O'Shea, JJ; Buckley, RH. Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. Blood. 2004;103:2009-2018. (2004) Abstract

Rosenzweig, SD; Dorman, SE; Uzel, G; Shaw, S; Scurlock, A; Brown, MR; Buckley, RH; Holland, SM. A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. Journal of Immunology. 2004;173:4000-4008. (2004) Abstract

Ballow, M; Berger, M; Bonilla, FA; Buckley, RH; Cunningham-Rundles, CH; Fireman, P; Kaliner, M; Ochs, HD; Skoda-Smith, S; Sweetser, MT; Taki, H; Lathia, C. Pharmacokinetics and tolerability of a new intravenous immunoglobulin preparation, IGIV-C, 10% (Gamunex, 10%). Vox Sanguinis: international journal of transfusion medicine. 2003;84:202-210. (2003) Abstract

Buckley, RH. 27. Transplantation immunology: organ and bone marrow. Journal of Allergy and Clinical Immunology. 2003;111:S733-S744. (2003) Abstract

Buckley, RH. Treatment options for genetically determined immunodeficiency. Lancet. 2003;361:541-542. (2003) Abstract

Roifman, CM; Schroeder, H; Berger, M; Sorensen, R; Ballow, M; Buckley, RH; Gewurz, A; Korenblat, P; Sussman, G; Lemm, G. Comparison of the efficacy of IGIV-C, 10% (caprylate/chromatography) and IGIV-SD, 10% as replacement therapy in primary immune deficiency. A randomized double-blind trial. International Immunopharmacology. 2003;3:1325-1333. (2003) Abstract

Sarzotti, M; Patel, DD; Li, X; Ozaki, DA; Cao, S; Langdon, S; Parrott, RE; Coyne, K; Buckley, RH. T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation. Journal of Immunology. 2003;170:2711-2718. (2003) Abstract

Buckley, RH. American Pediatric Society Presidential Address 2000: reflections on the 20th and 21st centuries. Pediatric Research. 2002;51:119-123. (2002) Abstract

Buckley, RH. Gene therapy for SCID--a complication after remarkable progress. Lancet. 2002;360:1185-1186. (2002) Abstract

Buckley, RH. Immunoglobulin G subclass deficiency: fact or fancy?. Current Allergy and Asthma Reports. 2002;2:356-360. (2002) Abstract

Buckley, RH. Primary cellular immunodeficiencies. Journal of Allergy and Clinical Immunology. 2002;109:747-757. (2002) Abstract

Buckley, RH. Primary immunodeficiency diseases: dissectors of the immune system. Immunological Reviews. 2002;185:206-219. (2002) Abstract

Myers, LA; Patel, DD; Puck, JM; Buckley, RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002;99:872-878. (2002) Abstract

Antaya, RJ; Gardner, ES; Bettencourt, MS; Daines, M; Denise, Y; Uthaisangsook, S; Buckley, RH; Prose, NS. Cutaneous complications of BCG vaccination in infants with immune disorders: two cases and a review of the literature. Pediatric Dermatology. 2001;18:205-209. (2001) Abstract

Buckley, RH. The hyper-IgE syndrome. Clinical Reviews in Allergy and Immunology. 2001;20:139-154. (2001) Abstract

Yin, EZ; Frush, DP; Donnelly, LF; Buckley, RH. Primary immunodeficiency disorders in pediatric patients: clinical features and imaging findings. American Journal of Roentgenology. 2001;176:1541-1552. (2001) Abstract

Zhou, YJ; Chen, M; Cusack, NA; Kimmel, LH; Magnuson, KS; Boyd, JG; Lin, W; Roberts, JL; Lengi, A; Buckley, RH; Geahlen, RL; Candotti, F; Gadina, M; Changelian, PS; O'Shea, JJ. Unexpected effects of FERM domain mutations on catalytic activity of Jak3: structural implication for Janus kinases. Molecular Cell. 2001;8:959-969. (2001) Abstract

Buckley, RH. Advances in the understanding and treatment of human severe combined immunodeficiency. Immunologic Research: a selective reference to current research and practice. 2000;22:237-251. (2000) Abstract

Buckley, RH. Gene therapy for human SCID: dreams become reality. Nature Medicine. 2000;6:623-624. (2000) Abstract

Buckley, RH. Primary immunodeficiency diseases due to defects in lymphocytes. New England Journal of Medicine. 2000;343:1313-1324. (2000) Abstract

Minegishi, Y; Lavoie, A; Cunningham-Rundles, C; Bédard, PM; Hébert, J; Côté, L; Dan, K; Sedlak, D; Buckley, RH; Fischer, A; Durandy, A; Conley, ME. Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome. Clinical Immunology. 2000;97:203-210. (2000) Abstract

Patel, DD; Gooding, ME; Parrott, RE; Curtis, KM; Haynes, BF; Buckley, RH. Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. New England Journal of Medicine. 2000;342:1325-1332. (2000) Abstract

Winkelstein, JA; Marino, MC; Johnston, RB; Boyle, J; Curnutte, J; Gallin, JI; Malech, HL; Holland, SM; Ochs, H; Quie, P; Buckley, RH; Foster, CB; Chanock, SJ; Dickler, H. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine. 2000;79:155-169. (2000) Abstract

Buckley, RH; Schiff, SE; Schiff, RI; Markert, L; Williams, LW; Roberts, JL; Myers, LA; Ward, FE. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. New England Journal of Medicine. 1999;340:508-516. (1999) Abstract

Grimbacher, B; Schäffer, AA; Holland, SM; Davis, J; Gallin, JI; Malech, HL; Atkinson, TP; Belohradsky, BH; Buckley, RH; Cossu, F; Español, T; Garty, BZ; Matamoros, N; Myers, LA; Nelson, RP; Ochs, HD; Renner, ED; Wellinghausen, N; Puck, JM. Genetic linkage of hyper-IgE syndrome to chromosome 4. American Journal of Human Genetics. 1999;65:735-744. (1999) Abstract

Markert, ML; Boeck, A; Hale, LP; Kloster, AL; McLaughlin, TM; Batchvarova, MN; Douek, DC; Koup, RA; Kostyu, DD; Ward, FE; Rice, HE; Mahaffey, SM; Schiff, SE; Buckley, RH; Haynes, BF. Transplantation of thymus tissue in complete DiGeorge syndrome. New England Journal of Medicine. 1999;341:1180-1189. (1999) Abstract

Jabara, HH; Buckley, RH; Roberts, JL; Lefranc, G; Loiselet, J; Khalil, G; Geha, RS. Role of JAK3 in CD40-mediated signaling. Blood. 1998;92:2435-2440. (1998) Abstract

Markert, ML; Hummell, DS; Rosenblatt, HM; Schiff, SE; Harville, TO; Williams, LW; Schiff, RI; Buckley, RH. Complete DiGeorge syndrome: persistence of profound immunodeficiency. Journal of Pediatrics. 1998;132:15-21. (1998) Abstract

Puel, A; Ziegler, SF; Buckley, RH; Leonard, WJ. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nature Genetics. 1998;20:394-397. (1998) Abstract

Boeck, A; Buckley, RH; Schiff, RI. Gastroesophageal reflux and severe combined immunodeficiency. Journal of Allergy and Clinical Immunology. 1997;99:420-424. (1997) Abstract

Buckley, RH; Schiff, RI; Schiff, SE; Markert, ML; Williams, LW; Harville, TO; Roberts, JL; Puck, JM. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. Journal of Pediatrics. 1997;130:378-387. (1997) Abstract

Davis, CM; McLaughlin, TM; Watson, TJ; Buckley, RH; Schiff, SE; Hale, LP; Haynes, BF; Markert, ML. Normalization of the peripheral blood T cell receptor V beta repertoire after cultured postnatal human thymic transplantation in DiGeorge syndrome. Journal of Clinical Immunology. 1997;17:167-175. (1997) Abstract

Markert, ML; Kostyu, DD; Ward, FE; McLaughlin, TM; Watson, TJ; Buckley, RH; Schiff, SE; Ungerleider, RM; Gaynor, JW; Oldham, KT; Mahaffey, SM; Ballow, M; Driscoll, DA; Hale, LP; Haynes, BF. Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus. Journal of Immunology. 1997;158:998-1005. (1997) Abstract

Parker, W; Yu, PB; Holzknecht, ZE; Lundberg, K; Buckley, RH; Platt, JL. Specificity and function of "natural" antibodies in immunodeficient subjects: clues to B cell lineage and development. Journal of Clinical Immunology. 1997;17:311-321. (1997) Abstract

Puck, JM; Pepper, AE; Henthorn, PS; Candotti, F; Isakov, J; Whitwam, T; Conley, ME; Fischer, RE; Rosenblatt, HM; Small, TN; Buckley, RH. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood. 1997;89:1968-1977. (1997) Abstract

Schiff, RI; Williams, LW; Nelson, RP; Buckley, RH; Burks, W; Good, RA. Multicenter crossover comparison of the safety and efficacy of Intraglobin-F with Gamimune-N, Sandoglobulin, and Gammagard in patients with primary immunodeficiency diseases. Journal of Clinical Immunology. 1997;17:21-28. (1997) Abstract

Broome, CB; Graham, ML; Saulsbury, FT; Hershfield, MS; Buckley, RH. Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling. Journal of Pediatrics. 1996;128:373-376. (1996) Abstract

Shearer, WT; Buckley, RH; Engler, RJ; Finn, AF; Fleisher, TA; Freeman, TM; Herrod, HG; Levinson, AI; Lopez, M; Rich, RR; Rosenfeld, SI; Rosenwasser, LJ. Practice parameters for the diagnosis and management of immunodeficiency. The Clinical and Laboratory Immunology Committee of the American Academy of Allergy, Asthma, and Immunology (CLIC-AAAAI). Annals of Allergy, Asthma, and Immunology. 1996;76:282-294. (1996) Abstract

Washington, K; Stenzel, TT; Buckley, RH; Gottfried, MR. Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. American Journal of Surgical Pathology. 1996;20:1240-1252. (1996) Abstract

Yel, L; Minegishi, Y; Coustan-Smith, E; Buckley, RH; Trübel, H; Pachman, LM; Kitchingman, GR; Campana, D; Rohrer, J; Conley, ME. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. New England Journal of Medicine. 1996;335:1486-1493. (1996) Abstract

Russell, SM; Tayebi, N; Nakajima, H; Riedy, MC; Roberts, JL; Aman, MJ; Migone, TS; Noguchi, M; Markert, ML; Buckley, RH; O'Shea, JJ; Leonard, WJ. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science. 1995;270:797-800. (1995) Abstract

Buckley, RH; Schiff, RI; Amos, DB. Blocking of autologous and homologous leukocyte responses by human alloimmune plasmas: a possible in vitro correlate of enhancement. Journal of Immunology. 1972;108:34-44. (1972) Abstract

Buckley, RH; Wray, BB; Belmaker, EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972;49:59-70. (1972) Abstract