Kathleen E. Sullivan, MD, PhD

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Kathleen E. Sullivan, MD, PhD, is Chief of the Division of Allergy and Immunology and participates in the Very Early Onset Inflammatory Bowel Disease (VEO-IBD) Program and 22Q and You Program at Children's Hospital of Philadelphia. She holds the Frank R. Wallace Endowed Chair in Infectious Diseases.

Areas of Expertise: The genetics of SLE, Care of Immunodeficient patients, Protection of immunologically vulnerable patients., 22q deletion syndrome
Locations: Buerger Center for Advanced Pediatric Care

Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)


Early in her career, Kathleen Sullivan, MD PhD, decided to work in a field where new technology could have a major impact on the lives of patients.

“I was interested in understanding how children could be treated to prevent infection and identifying better ways to treat people with unusual infections or unusual manifestations of infections,” Dr. Sullivan says. That led her to a distinguished career in immunology.

Dr. Sullivan has written or co-written over 200 publications in medical books and journals, and in 2017, the Immune Deficiency Foundation recognized her work with its Boyle Scientific Award, the highest honor in the field of primary immune deficiency.

With a PhD in immunology and biochemistry as well as an MD, Dr. Sullivan has an active research program. In the lab, she investigates the biochemical origins of immunodeficiency and autoimmune disease; in the clinic, she discovers ways to translate new findings into treatments for patients.

Of her laboratory research, Dr. Sullivan says, “I work on how DNA gets folded. This sounds obscure, but it turns out that the folding of the DNA changes how genes are expressed, and the folding is dictated in some cases by our diet, pollution, and previous infections. Conceptually, it is a way to bring together our environment and our genes to understand disease.”

“I also study several immune deficiencies as a clinician,” Dr. Sullivan notes. “I have had a long interest in Wiskott Aldrich syndrome, chronic granulomatous diseases, common variable immune deficiency and chromosome 22q11.2 deletion.”

Primary immunodeficiency diseases include more than 400 rare, chronic disorders that can have a bewildering variety of symptoms and are often very difficult to diagnose. This diversity means that Dr. Sullivan works with many multidisciplinary teams at CHOP; it also requires diligent and individualized care for every patient.

“Each patient is a partner with me to get their best life experiences and health,” says Dr. Sullivan. “Each patient has their own story and the treatments likewise need to fit their goals.”

As a leader in her field, Dr. Sullivan has served in several professional societies in roles that give her a broad view of the state of immunology and its overall role in health.

“I serve on a committee where we track the evolution of immunologodeficiencies since the 1970s,” Dr. Sullivan says. “The growth has been almost unbelievable and many people believe that immunology is the fastest-growing specialty. Much of the growth has been in understanding the genetics and matching treatments to the genetic etiologies.  I now am the director of the Undiagnosed Disease Network here at CHOP and hope to bring the type of innovation that helped people living with immunologic issues to other kids and adults.”

“For many years, I have worked on immunology on a very individual level, treating patients and personalizing the care for each patient,” Dr. Sullivan reflects. “I have now started to conceptualize population scale effects of the immune system. I like thinking about the immune system on that very personal level and also thinking about ways to improve health in a much broader way.”

Education and Training

Medical School

MD - University of California San Francisco, San Francisco, CA


Pediatrics - University of California San Francisco, San Francisco, CA


Immunology and Rheumatology - Johns Hopkins University School of Medicine, Baltimore, MD

Board Certification

Pediatric Rheumatology – American Board of Pediatrics
Pediatrics – American Board of Pediatrics

Graduate Degree

PhD in Biochemistry/Immunology - University of California San Francisco, San Francisco, CA

Titles and Academic Titles

Chief, Division of Allergy and Immunology

Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

Conditions Treated

Departments and Services




Crowley, TB, Ruffner, M, McDonald-McGinn, DM, Sullivan, KE. Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.  Am J Med Genet A. 2018 Oct;176(10):2082-2086. doi: 10.1002/ajmg.a.38597. Epub 2018 Jan 17.

Campbell, IA, Sheppard, SE, Crowley, TB, McGinn, DE, Bailey, A, Sullivan KE, et al. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637.

Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Sullivan KE, et al. Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol. 2018 Aug 28. pii: S0091-6749(18)31201-6. doi: 10.1016/j.jaci.2018.08.013. [Epub ahead of print]

Haddad E, Logan BR, Griffith LM, Buckley RH, Parrott RE, Sullivan KE, et al. SCID genotype and 6-month post-transplant CD4 count predict survival and immune recovery: a PIDTC retrospective study. Blood. 2018 Oct 25;132(17):1737-1749. doi: 10.1182/blood-2018-03-840702. Epub 2018 Aug 28.

Costa-Carvalho BT, Sullivan KE, Fontes PM, Aimé-Nobre F, Gonzales IGS, Lima ES, Granato C, de Moraes-Pinto MI. Low Rates of Poliovirus Antibodies in Primary Immunodeficiency Patients on Regular Intravenous Immunoglobulin Treatment. J Clin Immunol. 2018 Jul 14. doi: 10.1007/s10875-018-0531-x. [Epub ahead of print]

Sacco, KA, Garabedian, E, Sullivan, KE, USIDNET consortium, Joshi, A. Renal disease in chronic granulomatous disease: data from USIDNET registry. J Clin Immunol. 2018 Jul;38(5):556-557. doi: 10.1007/s10875-018-0530-y. Epub 2018 Jul 5.

Maurer, K, Shi, L, Zhang, Z, Song, L, Paucar, Y, Petri, M, Sullivan, KE.  Transposable element dysregulation in systemic lupus erythematosus and regulation by histone conformation and hsp90. Clin Immunol. 2018 Dec;197:6-18. doi: 10.1016/j.clim.2018.08.011. Epub 2018 Aug 24.

Leung, J, Sullivan, KE, Perelygina, L, Icenogle, JP, Fuleihan, R, Lanzieri, TM. Prevalence of granulomas in patients with primary immunodeficiency disorders, United States data from national health care claims and the US immunodeficiency network registry. J Clin Immunol. 2018 Aug;38(6):717-726. doi: 10.1007/s10875-018-0534-7. Epub 2018 Jul 24.

Maurer K, Ramen S, Shi L, Song L, Sullivan KE. Rapid induction of expression by LPS is accompanied by favorable chromatin and rapid binding of c-Jun. Mol Immunol. 2018 Mar;95:99-106. doi: 10.1016/j.molimm.2018.02.002. Epub 2018 Feb 20.

Le Coz, Nolan, BE, Trofa, M, Lamsheh, AM, Khoka, MK, Sullivan, KE, et al. CTLA4 haploinsufficiency-associated inflammation can occur independently of T-cell hyperproliferation.  Front Immunol. 2018 Jul 24;9:1715. doi: 10.3389/fimmu.2018.01715. eCollection 2018.

Gernez, Y, Freeman, AF, Holland, SM, Garabedian, E, Patel, N, Sullivan, KE, et al. Autosomal dominant hyper IgE syndrome in the USIDNET registry. J Allergy Clin Immunol Pract. 2018 May - Jun;6(3):996-1001. doi: 10.1016/j.jaip.2017.06.041. Epub 2017 Sep 19.

Raje, N, Snyder, BL, Hill, DA, Streicher, JL, Sullivan, KE. Severe immunodeficiency associated with acute lymphoblastic leukemia and its treatment.  Ann Allergy Asthma Immunol. 2018 May;120(5):537-538.e1. doi: 10.1016/j.anai.2017.12.023. Epub 2018 Mar 19.

Gutierrez, MJ, Sullivan, KE, Fuleihan, R, USIDNET, Bingham, CO. Phenotypic characterization of patients with rheumatologic manifestations of common variable immunodeficiency. Semin Arthritis Rheum. 2018 Oct;48(2):318-326. doi: 10.1016/j.semarthrit.2018.02.013. Epub 2018 Feb 23.

Romberg N, Le Coz C, Glauzy S, Schickel JN, Trofa M, Sullivan, KE, et al. Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses. J Allergy Clin Immunol. 2018 Jun 20. pii: S0091-6749(18)30897-2.

Ruffner, MA, USIDNET body weight group, Sullivan, KE. Complications associated with underweight primary immunodeficiency patients: prevalence and associations within the USIDNET registry. J Clin Immunol. 2018 Apr;38(3):283-293. doi: 10.1007/s10875-018-0492-0. Epub 2018 Apr 4.

Schwab, C, Gabrysch, A, Olbrich, P, Patiño, V, Warnatz, K, Sullivan KE, et al. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen-4-insufficient subjects. J Allergy Clin Immunol. 2018 Dec;142(6):1932-1946. doi: 10.1016/j.jaci.2018.02.055. Epub 2018 May 4.

Fahey, LM, Guzek, R, Ruffner, MA, Sullivan, KE, Spergel, J, Cianferoni, A. EMSY is increased and activates TSLP and CCL5 expression in eosinophilic esophagitis.  Pediatr Allergy Immunol. 2018 Aug;29(5):565-568. doi: 10.1111/pai.12907. Epub 2018 May 29.

Lawrence, MG, Palacios-Kibler, TV, Workman, LJ, Schuyler, AJ, Steinke, JW, Sullivan KE et al. Low serum IgE is a sensitive and specific marker for common variable immunodeficiency (CVID). J Clin Immunol. 2018 Apr;38(3):225-233. doi: 10.1007/s10875-018-0476-0. Epub 2018 Feb 17.

Mayor, PC, Eng, KH, Singel, KL, Abrams, SI, Odunsi, K, Moysich, KB, Fuleihan, R, Garabedian, E, Lugar, P, Ochs, HD, Bonilla, FA, Buckley, RH, Sullivan, KE, Ballas, ZK, Cunningham-Rundles, C, Segal, BH. Cancer in primary immunodeficiency disease: cancer incidence of the United States Immune Deficiency Network Registry.  J Allergy Clin Immunol. 2018 Mar;141(3):1028-1035. doi: 10.1016/j.jaci.2017.05.024. Epub 2017 Jun 9.

Zhang, Z, Shi, L, Song, L, Maurer, K, Petri, MA, Sullivan, KE. Overall downregulation of mRNAs and enrichment of H3K4me3 change near genome-wide association study signals in systemic lupus erythematosus: cell specific effects.  Front Immunol. 2018 Mar 13;9:497. doi: 10.3389/fimmu.2018.00497. eCollection 2018.

Crowley, B, Ruffner, M, McDonald-McGinn, DM, Sullivan, KE. Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.  Am J Med Genet A. 2018 Oct;176(10):2082-2086. doi: 10.1002/ajmg.a.38597. Epub 2018 Jan 17.

Sullivan, KE, Crowley, TB, Mauer, K, Goldmunz, E, Gaynor, JW, Zackai, E, Mcdonald-McGinn, D. T cell lymphopenia in 22q11.2 deletion syndrome: relationship to cardiac disease.  J Allergy Clin Immunol Pract. 2018 Mar - Apr;6(2):690-691. doi: 10.1016/j.jaip.2017.08.028. Epub 2017 Sep 28. No abstract available.

Dunn, K, Pasternak, B, Kelsen, JR, Sullivan, KE, Dawany, N, Wright, BL. Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae. Ann Allergy Asthma Immunol. 2018 Feb;120(2):214-215. doi: 10.1016/j.anai.2017.11.011. Epub 2017 Dec 28.

Picard, C, Gaspar, HB, Al Herz, W, Bousfiha, A, Casanova, JL, Sullivan, KE, et al. International union of immunological societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity.  J Clin Immunol. 2018 Jan;38(1):96-128. doi: 10.1007/s10875-017-0464-9. Epub 2017 Dec 11.

Bousfiha, A, Jeddane, L, Picard, C, Ailal, F, Gaspar, HB, Sullivan, KE, et al. The 2017 phenotypic classification for primary immunodeficiencies.  J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8. Epub 2017 Dec 11.

Henrickson, SE, Manne, S, Dolfi, DV, Mansfield, KD, Parkhouse, K, Mistry, RD, Alpern, ER, Hensley, SE, Sullivan, KE, Coffin, SE, Wherry, EJ. Genomic circuitry underlying immunological response to pediatric acute respiratory infection.  Cell Rep. 2018 Jan 9;22(2):411-426. doi: 10.1016/j.celrep.2017.12.043.

Farmer, JR, Ong, M-S, Barmettler, S, Yonker, LM, Fuleihan, R, Sullivan, KE, Cunningham-Rundles, C, USIDNET. Common variable immunodeficiency non-infectious disease endotypes redefined using unbiased network clustering in large electronic datasets.  Front Immunol. 2018 Jan 9;8:1740. doi: 10.3389/fimmu.2017.01740. eCollection 2017.

Hautala, TJ, Perelygina, L, Vuorinen, T, Hautala, NM, Hagg, PM, Sullivan KE, et al. Nitazoxanide may modify the course of progressive multifocal leukoencephalopathy. J Clin Immunol. 2018 Jan;38(1):4-6. doi: 10.1007/s10875-017-0463-x. Epub 2017 Nov 20.

Brescia, AMC, Simonds, MM, McCahan, SM, Sullivan, KE, Rose, CD. Prior to extension, transcriptomes of fibroblast-like synoviocytes from extended and polyarticular juvenile idiopathic arthritis are indistinguishable. Pediatr Rheumatol Online J. 2018 Jan 8;16(1):3. doi: 10.1186/s12969-017-0217-6.

Feuille, EJ, Anooshiravani, N, Sullivan, KE, Fuleihan, RL, Cunningham-Rundles, C.  Autoimmune cytopenias and associated conditions in CVID: a report from the USIDNET registry. J Clin Immunol. 2018 Jan;38(1):28-34. doi: 10.1007/s10875-017-0456-9. Epub 2017 Oct 28.


Heimall, J, Logan, BR, Cowan, MJ, Notarangleo, LD, Griffith, LM, Sullivan KE, et al. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: A PIDTC natural history study. Blood. 2017 Dec 21;130(25):2718-2727. doi: 10.1182/blood-2017-05-781849. Epub 2017 Oct 11.

Perelygina, L, Hautala, T, Seppanen, M, Adebayo, A, Sullivan, KE, Icenogle, J. Inhibition of rubella virus replication by the broad spectrum drug nitazoxanide in cell culture and in a patient with a primary immune deficiency. Antiviral Res. 2017 Nov;147:58-66. doi: 10.1016/j.antiviral.2017.09.019. Epub 2017 Sep 30.

Conrad, MA, Dawany, N, Sullivan, KE, Devoto, M, Kelsen, JR. Novel ZBTB24 mutation associated with immunodeficiency, centromere instability, and facial anomalies type 2 syndrome identified in a patient with very early onset inflammatory bowel disease. Inflamm Bowel Dis. 2017 Dec;23(12):2252-2255. doi: 10.1097/MIB.0000000000001280.

Gernez,Y, Freeman, AF, Holland, SM, Garabedian, E, Patel, N, Sullivan KE, et al. Autosomal Dominant Hyper IgE syndrome in the USIDNET registry. J Allergy Clin Immunol Pract. 2018 May - Jun;6(3):996-1001. doi: 10.1016/j.jaip.2017.06.041. Epub 2017 Sep 19.

Morsheimer, M, Brown Whitehorn, TF, Heimall, J, Sullivan, KE. The immune deficiency of chromosome 22q11.2 deletion syndrome.  Am J Med Genet A. 2017 Sep;173(9):2366-2372. doi: 10.1002/ajmg.a.38319. Epub 2017 Jun 19.

Sanchez, LA, Maggadottir, SM, Pantell, MS, Lugar, P, Cunningham-Rundles, C, Sullivan, KE.  Two sides of the same coin:  Pediatric-onset and adult-onset common variable immune deficiency. J Clin Immunol. 2017 Aug;37(6):592-602. doi: 10.1007/s10875-017-0415-5. Epub 2017 Jul 28.

Sullivan, KE, Crowley, TB, Maurer, K, Goldmuntz, E, Gaynor, W, Zackai, E, McDonald-McGinn, DM.  T cell lymphopenia in 22q11.2 deletion syndrome: relationship to cardiac disease. J Allergy Clin Immunol Pract. 2018 Mar - Apr;6(2):690-691. doi: 10.1016/j.jaip.2017.08.028. Epub 2017 Sep 28.

Barry, JC, Crowley, TB, Jyonouchi, S, Heimall, J, Zackai, EH, Sullivan, KE, McDonald-McGinn, DM. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. J Clin Immunol. 2017 Jul;37(5):476-485. doi: 10.1007/s10875-017-0403-9. Epub 2017 May 24.

Benn, P, Iyengar, S, Demko, Z, Crowley, TB, Zackai, EH, Burrows, E, Moshevich, S, McDonald-McGinn, DM, Sullivan, KE. Pediatric healthcare costs for patients with 22q11.2 deletion syndrome. Mol Genet Genomic Med. 2017 Nov;5(6):631-638. doi: 10.1002/mgg3.310. Epub 2017 Aug 12.

Shi, L, Song, L, Maurer, K, Zhang, Z, Sullivan, KE. SERPINB2 is regulated by dynamic interactions with pause-release proteins and enhancer RNAs. Mol Immunol. 2017 Aug;88:20-31. doi: 10.1016/j.molimm.2017.05.005. Epub 2017 Jun 1.

Ruffner, MA, Aksamit, TR, Thomashow, B, Choate, R, DiMango, A, Sullivan KE, et al. Frequency of untreated hypogammaglobulinemia in bronchiectasis.  Ann Allergy Asthma Immunol. 2017 Jul;119(1):83-85. doi: 10.1016/j.anai.2017.04.020. Epub 2017 May 20.

Brescia, AC, Simonds, MM, Sullivan, KE, Rose, CD. Secretion of pro-inflammatory cytokines and chemokines and loss of regulatory signals by fibroblast-like synoviocytes in juvenile idiopathic arthritis. Proteomics Clin Appl. 2017 May;11(5-6). doi: 10.1002/prca.201600088. Epub 2017 Jan 17.

Hartman, H, Schneider, K, Hintermeyere, M, Bausch-Jurken, M, Fuleihan, R, Sullivan, KE, Cunningham-Rundles, C, Bonilla, FA, USIDNET, Verbsky, J, Routes, J. Lack of clinical hypersensitivity to penicillin antibiotics in common variable immunodeficiency. J Clin Immunol. 2017 Jan;37(1):22-24. doi: 10.1007/s10875-016-0353-7. Epub 2016 Nov 22.


Geerlinks, AV, Issekutz, T, Wahlstrom, JT, Sullivan, KE, Cowan, MJ, Dvorak, CC, Fernandez, CV. Severe, persistent and fatal T cell immunodeficiency following therapy for infantile leukemia. Pediatr Blood Cancer. 2016 Nov;63(11):2046-9. doi: 10.1002/pbc.26108. Epub 2016 Jun 29.

Leven, EA, Maffucci, P, Ochs, HD, Scholl, PR, Buckley, RH, Sullivan KE, et al. Hyper IgM syndrome: A report from the USIDNET registry. J Clin Immunol. 2016 Jul;36(5):490-501. doi: 10.1007/s10875-016-0291-4. Epub 2016 May 17.

Egan, M, Sullivan, K, Frazer-Abel, A, Cunningham Rundles, C. A healthy female with C3 hypocomplementemia and C3 nephritic factor. Clin Immunol. 2016 Aug;169:14-15. doi: 10.1016/j.clim.2016.06.001. Epub 2016 Jun 2.

Morsheimer, MM, Rychik, J, Dodds, K, Goldberg, DJ, Sullivan, KE, Heimall, JR. Risk factors and clinical significance of lymphopenia in survivors of the Fontan procedure for single ventricle congenital cardiac disease. J Allergy Clin Immunol Pract. 2016 May-Jun;4(3):491-6. doi: 10.1016/j.jaip.2015.11.034. Epub 2016 Feb 18.

Sullivan, KE, Burrows, E, McDonald-McGinn, DM. Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts. Am J Med Genet A. 2016 Jun;170(6):1630-4. doi: 10.1002/ajmg.a.37648. Epub 2016 Apr 8.

Kamoun, C, Morsheimer, M, Sullivan, KE, Holland, SM, Cunningham-Rundles, C, Bunin, N, Heimall, J. Successful unrelated cord blood transplant for complete IFNGR2 deficiency. J Allergy Clin Immunol. 2016 Nov;138(5):1489-1491. doi: 10.1016/j.jaci.2016.06.017. Epub 2016 Jul 14.

Zhang, Z, Shi, L, Dawany, N, Kelsen, J, Petri, MA, Sullivan, KE. H3K4 tri-methylation breadth at transcription start sites impacts the transcriptome of systemic lupus erythematosus. Clin Epigenetics. 2016 Feb 2;8:14. doi: 10.1186/s13148-016-0179-4. eCollection 2016.

Derfalvi, B, Maurer, K, McDonald-McGinn, DM, Zackai, E, Meng, W, Luning Prak,, ET, Sullivan, KE. B cell development in chromosome 22q11.2 deletion syndrome. Clin Immunol. 2016 Feb;163:1-9. doi: 10.1016/j.clim.2015.12.004. Epub 2015 Dec 10.

Awards and Honors

2022, Leadership Council, Children's Hospital of Philadelphia
2022, Presidential Award, Clinical Immunology Society
2022, Founders Medal for Outstanding Contribution to Clinical and Translational Immunology, Clinical Immunology Society
2021, Inaugural Fellow, Clinical Immunology Society
2021, Philadelphia Business Journal Leader in Healthcare award
2021, Community Service Award, Immune Deficiency Foundation
2018, Special Service Award, 22q11.2 Society
2018, Mentor Award, Children's Hospital of Philadelphia