Current Environment: Production

Medical Services

Specialties

Programs & Services

Languages

  • English

Education

Graduate School

PhD

Yale School of Medicine

2010, New Haven, CT

Medical School

Yale School of Medicine

2010, New Haven, CT

Residency

Boston Children’s Hospital

2013, Boston, MA

Fellowship

Allergy/Immunology

Boston Children’s Hospital

2016, Boston, MA

Certifications

  • American Board of Allergy & Immunology (General)
  • American Board of Pediatrics (General)

Professional History

Dr. Platt serves as an expert for the Division of Immunology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.

Publications

  1. Flow Cytometry-based Immune Phenotyping of T and B Lymphocytes in the Evaluation of Immunodeficiency and Immune Dysregulation. Immunol Allergy Clin North Am. 2025 May; 45(2):189-203. View Abstract

  2. Incidence and risk factors for CMV and EBV infection in infants with low T-cell receptor excision circles on newborn screen. Clin Immunol. 2025 Apr 30; 277:110510. View Abstract

  3. A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-a biologic therapy. Med. 2025 Feb 25; 100607. View Abstract

  4. T cell and autoantibody profiling for primary immune regulatory disorders. medRxiv. 2025 Jan 27. View Abstract

  5. Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework. J Allergy Clin Immunol. 2025 May; 155(5):1647-1663. View Abstract

  6. Flow Cytometry-based Immune Phenotyping of T and B Lymphocytes in the Evaluation of Immunodeficiency and Immune Dysregulation. Clin Lab Med. 2024 Sep; 44(3):479-493. View Abstract

  7. Multi-modal skin atlas identifies a multicellular immune-stromal community associated with altered cornification and specific T cell expansion in atopic dermatitis. bioRxiv. 2023 Oct 31. View Abstract

  8. In cis "benign" SOCS1 variants linked to enhanced interferon signaling and autoimmunity. J Autoimmun. 2023 11; 140:103119. View Abstract

  9. A case of neonatal sweet syndrome associated with mevalonate kinase deficiency. Pediatr Rheumatol Online J. 2023 Sep 12; 21(1):101. View Abstract

  10. The Integration of Patient-Reported Quality of Life and Systemic Biomarkers in Patients with Immune Dysregulation. Res Sq. 2023 Aug 23. View Abstract

  11. Rethinking Immunological Risk: A Retrospective Cohort Study of Severe SARS-Cov-2 Infections in Individuals With Congenital Immunodeficiencies. J Allergy Clin Immunol Pract. 2023 11; 11(11):3391-3399.e3. View Abstract

  12. Clinical utility of measuring CD4+ T follicular cells in patients with immune dysregulation. J Autoimmun. 2023 11; 140:103088. View Abstract

  13. Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review. Front Pediatr. 2023; 11:1223191. View Abstract

  14. Clinical utility of measuring CD4 + T follicular cells in patients with immune dysregulation. medRxiv. 2023 Jun 07. View Abstract

  15. Rethinking immunologic risk: a retrospective cohort study of severe SARS-CoV-2 infections in individuals with congenital immunodeficiencies. medRxiv. 2023 Jun 05. View Abstract

  16. Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2. J Allergy Clin Immunol. 2023 09; 152(3):771-782. View Abstract

  17. Immune dysregulation caused by homozygous mutations in CBLB. J Clin Invest. 2022 10 17; 132(20). View Abstract

  18. A homozygous truncating mutation of FGL2 is associated with immune dysregulation. J Allergy Clin Immunol. 2023 02; 151(2):572-578.e1. View Abstract

  19. Simultaneous Late, Late-Onset Group B Streptococcal Meningitis in Identical Twins. Clin Pediatr (Phila). 2023 02; 62(2):96-99. View Abstract

  20. An Evidence-Based Guideline Improves Outcomes for Patients With Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome. J Rheumatol. 2022 Sep; 49(9):1042-1051. View Abstract

  21. Spontaneous resolution of severe idiopathic T cell lymphopenia. Clin Immunol. 2022 05; 238:109014. View Abstract

  22. Digenic inheritance of IL-36RA and SEC61A1 mutations underlies generalized pustular psoriasis with hypogammaglobulinemia. Clin Immunol. 2022 02; 235:108930. View Abstract

  23. Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C). J Allergy Clin Immunol. 2021 09; 148(3):732-738.e1. View Abstract

  24. Therapeutic options for CTLA-4 insufficiency. J Allergy Clin Immunol. 2022 02; 149(2):736-746. View Abstract

  25. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. J Allergy Clin Immunol. 2021 08; 148(2):381-393. View Abstract

  26. Pulmonary manifestations of immune dysregulation in CTLA-4 haploinsufficiency and LRBA deficiency. Pediatr Pulmonol. 2021 07; 56(7):2232-2241. View Abstract

  27. Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts. J Allergy Clin Immunol Pract. 2021 05; 9(5):2060-2067.e2. View Abstract

  28. Combined immunodeficiency due to a mutation in the ?1 subunit of the coat protein I complex. J Clin Invest. 2021 02 01; 131(3). View Abstract

  29. Distinct clinical and immunological features of SARS-CoV-2-induced multisystem inflammatory syndrome in children. J Clin Invest. 2020 11 02; 130(11):5942-5950. View Abstract

  30. Practical Guidance for the Evaluation and Management of Drug Hypersensitivity: Specific Drugs. J Allergy Clin Immunol Pract. 2020 10; 8(9S):S16-S116. View Abstract

  31. Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency. J Allergy Clin Immunol. 2021 02; 147(2):723-726. View Abstract

  32. Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1. J Allergy Clin Immunol. 2020 11; 146(5):1194-1200.e1. View Abstract

  33. A family history of SCID and unrevealing WES: An approach to management and guidance of patients. Clin Immunol. 2020 09; 218:108520. View Abstract

  34. Immunoglobulins in the treatment of COVID-19 infection: Proceed with caution! Clin Immunol. 2020 07; 216:108459. View Abstract

  35. A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection. J Clin Immunol. 2020 05; 40(4):665-669. View Abstract

  36. Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2). J Allergy Clin Immunol. 2020 06; 145(6):1664-1672.e10. View Abstract

  37. Dysregulated actin dynamics in activated PI3Kd syndrome. Clin Immunol. 2020 01; 210:108311. View Abstract

  38. Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology. J Allergy Clin Immunol. 2020 01; 145(1):46-69. View Abstract

  39. A novel truncating mutation in MYD88 in a patient with BCG adenitis, neutropenia and delayed umbilical cord separation. Clin Immunol. 2019 10; 207:40-42. View Abstract

  40. A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis. J Allergy Clin Immunol. 2019 08; 144(2):611-613.e3. View Abstract

  41. Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency. J Allergy Clin Immunol. 2019 08; 144(2):574-583.e5. View Abstract

  42. F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects. J Allergy Clin Immunol. 2019 06; 143(6):2317-2321.e12. View Abstract

  43. Calm in the midst of cytokine storm: a collaborative approach to the diagnosis and treatment of hemophagocytic lymphohistiocytosis and macrophage activation syndrome. Pediatr Rheumatol Online J. 2019 Feb 14; 17(1):7. View Abstract

  44. Deficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in mice. JCI Insight. 2018 08 23; 3(16). View Abstract

  45. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol. 2018 12; 142(6):1932-1946. View Abstract

  46. A quality improvement initiative to increase access to food challenges. Pediatr Allergy Immunol. 2018 06; 29(4):447-449. View Abstract

  47. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol. 2018 04; 141(4):1450-1458. View Abstract

  48. Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. Clin Immunol. 2017 10; 183:142-144. View Abstract

  49. Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. J Allergy Clin Immunol. 2018 03; 141(3):1050-1059.e10. View Abstract

  50. The LRRC8A Mediated "Swell Activated" Chloride Conductance Is Dispensable for Vacuolar Homeostasis in Neutrophils. Front Pharmacol. 2017; 8:262. View Abstract

  51. Leucine-rich repeat containing 8A (LRRC8A)-dependent volume-regulated anion channel activity is dispensable for T-cell development and function. J Allergy Clin Immunol. 2017 Dec; 140(6):1651-1659.e1. View Abstract

  52. Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site. J Allergy Clin Immunol. 2017 07; 140(1):268-271.e6. View Abstract

  53. Skin testing, graded challenge, and desensitization to von Willebrand factor (VWF) products in type III von Willebrand disease (VWD). J Allergy Clin Immunol Pract. 2016 Sep-Oct; 4(5):1006-8. View Abstract

  54. Rituximab Desensitization in Pediatric Patients: Results of a Case Series. Pediatr Allergy Immunol Pulmonol. 2016 Jun 01; 29(2):91-94. View Abstract

  55. A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens. J Allergy Clin Immunol. 2015 Sep; 136(3):794-797.e1. View Abstract

  56. Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2014 Aug; 134(2):262-8. View Abstract

  57. Mature dendritic cells use endocytic receptors to capture and present antigens. Proc Natl Acad Sci U S A. 2010 Mar 02; 107(9):4287-92. View Abstract

  58. Inflammasome-activating nanoparticles as modular systems for optimizing vaccine efficacy. Vaccine. 2009 May 18; 27(23):3013-21. View Abstract

  59. Transcript initiation, polyadenylation, and functional promoter mapping for the dihydrofolate reductase-thymidylate synthase gene of Toxoplasma gondii. Mol Biochem Parasitol. 2004 Oct; 137(2):229-38. View Abstract
BESbswy
BESbswy