Erin Janssen, MD, PhD
Charles Neil Weller Pediatric Discovery Research Professor
Clinical Associate Professor of Pediatrics and Division Director
Pediatric Rheumatology
Medical School
[email protected]
Available to mentor
Erin Janssen, MD, PhD
Clinical Associate Professor
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About
My clinical work is focused on the diagnosis and management of complex patients with immune dysregulation including patients with polyautoimmunity, primary immunodeficiencies, and autoinflammatory syndromes.
In my clinical work, I utilize immunophenotyping, functional immune assays, targeted gene and whole exome sequencing to identify the underlying genetic defects and/or specific immunologic impairment underlying a patient's condition.
My clinical work also benefits from bringing together different medical disciplines to form a comprehensive care team for patients with immune dysregulation affecting multiple organ systems.
Qualifications
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Research Fellow (Laboratory of Raif Geha)Boston Children's Hospital, Boston, United States
2009 - 2011
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Pediatrics ResidencyBoston Children's Hospital, United States
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Pediatric Rheumatology FellowshipBoston Children's Hospital, United States
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B.S in BiologyMassachusetts Institute of Technology, Cambridge, United States
1993 - 1997
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MDDuke University Medical School, United States
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PhDDuke University, Durham, United States
Research Overview
Identification of novel mechanisms of immune dysregulation
Exploring the role of ubiquitin ligases in the generation of autoimmune and inflammatory disease
Elucidating the role of the actin regulator - DOCK8 in generation of autoimmunity and allergic diseases
Recent Publications
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Gard CN, Freigeh GE, Janssen EM. Journal of Allergy and Clinical Immunology, 2026 Feb 5; 156 (6): 1456 - 1464.Journal ArticleAllergic manifestations of actinopathies: A review
DOI:10.1016/j.jaci.2025.06.030 -
Janssen E, Das M, Butts J, Alasharee M, Mukherjee S, Lozano GL, Rao C, Livingston AF, Woods B, Smith E, Peters Z, Milin E, Beamer MA, Wilkie H, Leyva-Castillo JM, Kam C, Sobh A, Dasouki M, Wakim RH, Dbaibo G, Al-Herz W, Chatila TA, Finkelman FD, Rakoff-Nahoum S, Geha RS. Immunity, 2025 Jul 8; 58 (7): 1794 - 1810.e5.Journal ArticleDOCK8 in T cells promotes Th17 and Treg cell functionality to restrain mucosal mast cells and limit susceptibility to oral anaphylaxis
DOI:10.1016/j.immuni.2025.06.004 PMID: 40570852 -
Janssen E, Alosaimi MF, Alazami AM, Alsuliman A, Alaiya A, Al-Saud B, Al-Mousa H, Al-Zaid TJ, Smith E, Platt CD, Alruwaili H, Albanyan S, Al-Mayouf SM, Geha RS. Journal of Allergy and Clinical Immunology, 2023 Feb 1; 151 (2): 572 - 578.e1.Journal ArticleA homozygous truncating mutation of FGL2 is associated with immune dysregulation
DOI:10.1016/j.jaci.2022.10.006 PMID: 36243222 -
Janssen E, Peters Z, Alosaimi MF, Smith E, Milin E, Stafstrom K, Wallace JG, Platt CD, Chou J, El Ansari YS, Farsi TA, Ameziane N, Al-Ali R, Calvo M, Rocha ME, Bauer P, Al-Sannaa NA, Al Sukaiti NF, Alangari AA, Bertoli-Avella AM, Geha RS. Journal of Clinical Investigation, 2022 Oct 17; 132 (20):Journal ArticleImmune dysregulation caused by homozygous mutations in CBLB
DOI:10.1172/JCI154487 PMID: 36006710 -
Junqueira C, Crespo Â, Ranjbar S, de Lacerda LB, Lewandrowski M, Ingber J, Parry B, Ravid S, Clark S, Schrimpf MR, Ho F, Beakes C, Margolin J, Russell N, Kays K, Boucau J, Das Adhikari U, Vora SM, Leger V, Gehrke L, Henderson LA, Janssen E, Kwon D, Sander C, Abraham J, Goldberg MB, Wu H, Mehta G, Bell S, Goldfeld AE, Filbin MR, Lieberman J. Nature, 2022 Jun 16; 606 (7914): 576 - 584.Journal ArticleFcγR-mediated SARS-CoV-2 infection of monocytes activates inflammation
DOI:10.1038/s41586-022-04702-4 PMID: 35385861 -
Janssen E, Tohme M, Butts J, Giguere S, Sage PT, Velázquez FE, Kam C, Milin E, Das M, Sobh A, Al-Tamemi S, Luscinskas FW, Batista F, Geha RS. Jci Insight, 2020 Aug 6; 5 (15):Journal ArticleDOCK8 is essential for LFA-1–dependent positioning of T follicular helper cells in germinal centers
DOI:10.1172/jci.insight.134508 PMID: 32573493 -
Hoyt KJ, Chatila TA, Notarangelo LD, Hazen MM, Janssen E, Henderson LA. Clinical Immunology, 2020 Feb 1; 211:Journal ArticleThe immunologic features of patients with early-onset and polyautoimmunity
DOI:10.1016/j.clim.2019.108326 PMID: 31838215 -
Janssen E, Kumari S, Tohme M, Ullas S, Barrera V, Tas JMJ, Castillo-Rama M, Bronson RT, Usmani SM, Irvine DJ, Mempel TR, Geha RS. Jci Insight, 2017 Oct 5; 2 (19):Journal ArticleDOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs
DOI:10.1172/jci.insight.94298 PMID: 28978806
