Cell Signaling and Immunity Section
Kalpana Manthiram, M.D.
Assistant Clinical Investigator
Contact: For contact information, search the NIH Enterprise Directory.
Specialty(s): Infectious Disease, Pediatrics Provides direct clinical care to patients at NIH Clinical Center
Major Areas of Research
- Genetics of periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome and other Behçet’s Spectrum Disorders
- Immunology of pediatric tonsil disorders
- Immune responses to infections in oropharyngeal lymphoid tissue
- Clinical and immunologic features of trisomy 8 associated autoinflammatory disease (TRIAD)
The overall goal of Dr. Manthiram’s research is to elucidate genetic susceptibility factors and immunologic mechanisms of mucosal autoinflammatory disorders through translational research.
Her research group studies periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, which is the most common periodic fever syndrome in children. Patients with PFAPA have recurrent, regular episodes of fever with aphthous ulcers pharyngitis, and cervical adenitis. She has focused on unraveling the pathogenesis of PFAPA syndrome by identifying genetic risk factors and studying tonsil immunology. She has identified common genetic susceptibility loci and class I and class II HLA risk alleles for PFAPA indicating the PFAPA is a complex genetic disease. These associated risk variants are also risk alleles for recurrent aphthous ulcers and Behçet’s disease, which links these three oropharyngeal disorders on a spectrum of disease called Behçet’s spectrum disorders. Recently, her group has studied the immune response to SARS-CoV-2 in the tonsil and adenoid tissue, shedding light on the mucosal immune response to this virus.
Her lab also studies the mechanism of other mucosal inflammatory disorders including obstructive sleep apnea and trisomy 8-associated autoinflammatory disease (TRIAD). Dr. Manthiram follows patients with PFAPA and TRIAD at NIH.
M.D., The University of Texas Southwestern Medical Center at Dallas
Dr. Kalpana Manthiram obtained her M.D. at University of Texas Southwestern Medical School in Dallas, Texas and completed her internship and residency in Pediatrics at the Boston Combined Residency Program at Boston Children’s Hospital and Boston Medical Center. She went on to do her Pediatric Infectious Diseases Fellowship at Vanderbilt University Medical Center, where she worked with Dr. Kathryn Edwards to study PFAPA syndrome, the most common periodic fever syndrome in children. She obtained her Master of Science in Clinical Investigation at Vanderbilt. Following her clinical fellowship, she was a post-doctoral researcher in Dr. Daniel Kastner’s laboratory in NHGRI for 5 years where she began studying the genetics of PFAPA syndrome. In 2020, she joined NIAID as an Assistant Clinical Investigator in the Laboratory of Immune System Biology. Her mentor in Dr. Pamela Schwartzberg.
Manthiram K, Preite S, Dedeoglu F, Demir S, Ozen S, Edwards KM, Lapidus S, Katz AE; Genomic Ascertainment Cohort, Feder HM Jr, Lawton M, Licameli GR, Wright PF, Le J, Barron KS, Ombrello AK, Barham B, Romeo T, Jones A, Srinivasalu H, Mudd PA, DeBiasi RL, Gül A, Marshall GS, Jones OY, Chandrasekharappa SC, Stepanovskiy Y, Ferguson PJ, Schwartzberg PL, Remmers EF, Kastner DL. Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis. Proc Natl Acad Sci U S A. 2020 Jun 23;117(25):14405-14411.
Amarilyo G, Rothman D, Manthiram K, Edwards KM, Li SC, Marshall GS, Yildirim-Toruner C, Haines K, Ferguson PJ, Lionetti G, Cherian J, Zhao Y, DeLaMora P, Syverson G, Nativ S, Twilt M, Michelow IC, Stepanovskiy Y, Thatayatikom A, Harel L, Akoghlanian S, Tucker L, Marques MC, Srinivasalu H, Propst EJ, Licameli GR, Dedeoglu F, Lapidus S; CARRA PFAPA Consensus Treatment Plan Workgroup. Consensus treatment plans for periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA): a framework to evaluate treatment responses from the childhood arthritis and rheumatology research alliance (CARRA) PFAPA work group. Pediatr Rheumatol Online J. 2020 Apr 15;18(1):31.
Manthiram K, Correa H, Boyd K, Roland J, Edwards K. Unique histologic features of tonsils from patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Clin Rheumatol. 2018 May;37(5):1309-1317.
Manthiram K, Nesbitt E, Morgan T, Edwards KM. Family History in Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome. Pediatrics. 2016 Sep;138(3):e20154572.
Treatment of Patients with PFAPA
Demystifying Medicine: Reimagining the Taxonomy of Autoinflammatory Disease