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Specialist in Pediatric Rheumatology & Autoinflammatory Disorders

Dr. Pallavi Pimpale is an experienced Pediatric Rheumatologist, specializing in the diagnosis and management of complex autoimmune and autoinflammatory disorders in children. She holds a DNB in Pediatrics, followed by a Fellowship in Pediatric Rheumatology and a Fellowship in Autoinflammatory Disorders. She received her training at esteemed institutions, including Jaslok Hospital, Mumbai, and the National Institutes of Health (NIH), United States.

At NIH, she made important contributions to the investigation of autoinflammatory disorders under the mentorship of Dr. Daniel Kastner. With additional expertise in Genetics and Molecular Diagnostics, Dr. Pimpale collaborates with global experts to advance care in Pediatric Rheumatology and Autoinflammatory Disorders.

Years of Experience: 7 years

Memberships

• National Conference of Pediatric Rheumatology Society of India (NCPR)
• Pediatric European Rheumatology Society (PReS)
• PReS EMERGE – Pediatric Rheumatology European Society EMErging RheumatoloGists and rEsearchers
• International Society of Systemic Auto-inflammatory Diseases (ISSAID)
• International Myositis Assessment and Clinical Studies Group (IMACS)
• Indian Rheumatology Association (IRA)
• Maharashtra Rheumatology Association
• Indian Academy of Pediatrics (IAP)

Area of Interest

• Autoinflammatory Disorders and Rheumatology
• Unique skills in analyzing genomic data to identify new variants or genes causing rare autoinflammatory disorders
• Managing and interpreting the molecular and genetic reports for patients with rare autoinflammatory disorders

Highlights of Experience & Contributions

1. 5 years of an intensive, specialized fellowship in genetic and molecular diagnosis, clinical management and advanced laboratory evaluation of patients with autoinflammatory disorders from National Human Genome Research Institute, National Institutes of Health, United States.
2. Case and poster presentations at various international meetings:
   • Pediatric European Rheumatology Association (PReS)
   • Young Investigator Meet (PReS-YIM)
   • International Society of Systemic Auto-inflammatory Diseases (ISSAID)
   • Global Myositis Conferences (GCOM)
3. Contributions to international projects:
   • sJADAS study
   • PedVas registry
   • Systemic Sclerosis registry
4. Faculty speaker at Pediatric Rheumatology Workshop and panelist for case-based discussion at National Pediatric Conference, India (2019)
5. Faculty speaker at National Conference of Pediatric Rheumatology Society of India (2021)
6. Faculty member at the online teaching program “Pediatric Rheumatology Orientation Made In Steps Using ECHO (PROMISE)”

Certifications

• Bioinformatics for Analysis of Data Generated by Next Generation Sequencing (National Institutes of Health, Bethesda, USA, 2022)
• International Myositis Assessment and Clinical Studies Group (IMACS) Mentorship Program (May 2019 – May 2021), online under the mentorship of Dr. Lisa Rider (National Institutes of Health, Bethesda, USA)
• Pediatric Rheumatology Online Course - European Society & European League Against Rheumatism (June 2018)

Best Posters and Papers Presented

Case and poster presentations at national and international conferences:

• National Conference of Pediatric Rheumatology Society of India (NCPR)
• Pediatric European Rheumatology Association (PReS)
• Young Investigator Meet (PReS-YIM)
• International Society of Systemic Auto-inflammatory Diseases (ISSAID)
• Global Myositis Conferences (GCOM)

Poster Presentations

1. Vaccination in children with rheumatic diseases
2. A Child with Majeed Syndrome from India
3. Kimura disease treated with Cetirizine and Montelukast – A five month follow-up
4. Myositis Damage Index in a cohort of Indian Children with Juvenile Dermatomyositis
5. Clinical profile of seven children with hereditary complement deficiency from a centre in Mumbai, India
6. Bullous Systemic Lupus Erythematosus
7. Spondyloenchondrodysplasia – A case from India
8. Profile of myositis antibodies in a cohort of children with Juvenile Dermatomyositis (JDM) from a single center in Mumbai, India
9. An unsolved case with Granulomatous Panuveitis from India
10. Sibship with uveitis and sensorineural hearing loss
11. New monogenic autoinflammatory disease due to homozygous loss of function mutation in Tank binding kinase 1
12. Childhood systemic lupus erythematosus (cSLE) damage measured using Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI) in a cohort of patients from Mumbai, India
13. Biallelic mutations in TKT in patients with Cogan Syndrome
14. Inflammatory Linear Verrucous Epidermal Nevus (ILVEN) – A new skin manifestation in a child with Blau Syndrome

Publications

1. Biallelic human SHARPIN loss of function induces Autoinflammation and Immunodeficiency. Nat Immunol, 25, 764–777.
2. Interrupting an IFN-γ-dependent feedback loop in the syndrome of Pyogenic Arthritis with Pyoderma Gangrenosum and Acne. Annals of the Rheumatic Diseases, 83(6), 787-798.
3. Standardized Nailfold Capillaroscopy in children with rheumatic diseases: a worldwide study. Rheumatology, 62(4), April 2023, Pages 1605.
4. Variant STAT4 and response to ruxolitinib in an Autoinflammatory Syndrome. N Engl J Med, 2023;388:2241-2252.
5. Case report: Novel variants in RELA associated with familial Behcet’s-like disease. Front. Immunol., 28 February 2023.
6. Wide variation in glucocorticoid dosing in paediatric ANCA-associated vasculitis with renal disease: a Paediatric Vasculitis initiative study. Clin Exp Rheumatol, 2022.
7. Is Anti-NXP2 Autoantibody a Risk Factor for Calcinosis and Poor Outcome in Juvenile Dermatomyositis Patients? Front Pediatr, 8, 23 February 2022.
8. Clinical features, severity and outcome of Acute Pancreatitis in Systemic Lupus Erythematosus. Rheumatol Int., 42, 1363–1371 (2022).
9. Deficiency of Adenosine Deaminase 2 (DADA2): One Disease, Several Faces. Indian J Pediatr, 88, 828–830 (2021).
10. Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death. Cell, 184(17), 2021, Pages 4447-4463.e20.
11. Majeed Syndrome: Five Cases with Novel Mutations from Unrelated Families in India with a Review of Literature. The Journal of Rheumatology, May 2021.
12. Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience from India. Arthritis Rheumatol, 2021; 73(2): 276–285.
13. Development and initial validation of a composite disease activity score for Systemic Juvenile Idiopathic Arthritis. Rheumatology, 59(11), November 2020, Pg 3505-3514.
14. Steroid-dependent Kimura Disease in a Child Treated with Cetirizine and Montelukast. Indian Pediatr, 2020 Aug 15;57(8):777-778.
15. Genotype and functional correlates of disease phenotype in deficiency of Adenosine Deaminase 2 (DADA2). J Allergy Clin Immunol, 145(6), 2020, Pages 1664-1672.e10.
16. Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID). Clin Rheumatol, 2019 Feb;38(2):403-406.

Peer Review Contributions

Journals:

• Postgraduate Medicine Journal
• Pediatric Rheumatology