Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience

Frontiers in Immunology

Sagar Bhattad¹  Vijaya Gowri²  Mukesh Desai²  Prasad Taur²  Ambreen Abdulwahab Pandrowala²  Isabella Ceccherini³  Marco Gottorno³  Eunice Sindhuvi Edison⁴  Biju George⁴  Fouzia N. Aboobacker⁴  Michael S. Hershfield⁵  Swati Kanakia⁶  Gummadi Anjani⁷  Rakesh Kumar Pilania⁷  Surjit Singh⁷  Vibhu Joshi⁷  Anju Gupta⁷  Kanika Arora⁷  Pandiarajan Vignesh⁷  Ankur Kumar Jindal⁷  Deepti Suri⁷  Amit Rawat⁷  Rajni Kumrah⁷  Amita Aggarwal⁸  Shubha Phadke⁸  Raphaela Goldbach-Mansky⁹  Adriana Almeida de Jesus⁹ 

[1] Aster Cauvery Medical Institute Hospital, Bengaluru, India;Bai Jerbai Wadia Hospital for Children, Mumbai, India;Center for Autoinflammatory Diseases and Immunodeficiency, Istituto di Ricovero e Cura a Carattere Scientifico Instituto Giannina Gaslini, Genoa, Italy;Christian Medical College and Hospital, Vellore, India;Duke University Medical Centre, Durham, NC, United States;Lilavati Hospital and Research Center, Mumbai, India;Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India;Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGI), Lucknow, India;Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States;

关键词: systemic autoinflamatory diseases;    India;    deficiency of adenosine deaminase 2;    NOMID/CINCA;    hyper IgD syndrome;    A20 (TNFAIP3);   

DOI  :  10.3389/fimmu.2021.630691

来源: DOAJ

【 摘 要 】

Background: Systemic autoinflammatory diseases (SAID) are rare inherited disorders involving genes regulating innate immune signaling and are characterized by periodic or chronic multi-systemic inflammation.Objective: To describe spectrum of clinical, immunological, molecular features, and outcomes of patients with SAID in India.Methods: Request to share data was sent to multiple centers in India that are involved in care and management of patients with Inborn Errors of Immunity. Six centers provided requisite data that were compiled and analyzed.Results: Data on 107 patients with SAID were collated—of these, 29 patients were excluded due to unavailability of complete information. Twelve patients (15%) had type 1 interferonopathies, 21 (26%) had diseases affecting inflammasomes, 30 patients (41%) had non-inflammasome related conditions and 1five patients (19%) had Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA). Type1 interferonopathies identified in the cohort included patients with Deficiency of Adenosine Deaminase 2 (DADA2) (six patients; five families); STING-associated vasculopathy infantile-onset (SAVI) (three patients, one family); Spondyloenchondro-dysplasia with Immune Dysregulation (SPENCD) (two patients). Diseases affecting inflammasomes include Mevalonate Kinase Deficiency (eight patients); Cryopyrin-Associated Periodic Syndromes (CAPS) (seven patients); NLR Family, Pyrin domain-containing 12 (NLRP12) (two patients); Familial Mediterranean fever (FMF) (two patients); Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) (two patients). TNF receptor-associated periodic syndrome (TRAPS) (three patients); A20 haploinsufficiency (four patients); Deficiency of Interleukin 1 Receptor Antagonist (DIRA) (two patients) were categorized as non-inflammasome related conditions. There were significant delays in diagnosis Corticosteroids and other immunosuppressive agents were used for treatment as anti-IL-1 drugs and other biological agents were and still are not available in India. Eight (16.3%) patients had so far succumbed to their illness.Conclusions: This is the first nationwide cohort of patients with SAID from India. Clinical manifestations were diverse. Overlapping of clinical features with other relatively common rheumatological disorders often resulted in delays in diagnosis. More nationwide efforts are needed to enhance awareness of SAID among health care professionals and there is an urgent need to make targeted immunotherapies universally available.

【 授权许可】

Unknown