Antineutrophil cytoplasmic antibody (ANCA) vasculitis is a rare multisystem small vessel vasculitis in children. Apart from usual clinical management, psychosocial issues are also need to be addressed. We report a young girl with ANCA vasculitis and associated psychosocial stressors who responded to timely intervention through cognitive behavior therapy.

DisseminatedMycobacterium fortuitum infection in a young girl withIFN-γR1 defect masquerading as histiocytosisArchan Sila, Suprit Basua, Jhumki Dasa, Sunil Sethib, Debajyoti Chatterjee c, Pandiarajan Vignesha, Deepti Suria, Ankur Kumar Jindala*aAllergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India- 160012bDepartment of Medical Microbiology, Post Graduate Institute of Medical Education and Research, Chandigarh, India- 160012cDepartment of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India- 160012

A document by Sanghamitra Machhua. Click on the document to view its contents.

Title of manuscript : Forme fruste of scleroderma and autoimmune hearing loss in a young adult with X linked agammaglobulinemia Authors-Munish Arora, Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and research, Chandigarh, IndiaPallavi Nadig, Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and research, Chandigarh, IndiaSanchi Chawla, Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and research, Chandigarh, IndiaSaniya Sharma, Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and research, Chandigarh, IndiaAmit Rawat, Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and research, Chandigarh, IndiaRamandeep S. Virk, Department of Otorhinolaryngology, Post Graduate Institute of Medical Education and research, Chandigarh, IndiaAnkur Kumar Jindal, Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and research, Chandigarh, India.

Background: There is paucity of literature on long term follow-up of patients with Hereditary angioedema (HAE) from developing countries. Objective: This study was carried out to analyse the clinical manifestations, laboratory features and genetic profile of 32 patients (21 male and 11 female) from 23 families diagnosed with HAE between January 1996 and December 2019. Methods: Data were retrieved from medical records of the Paediatric Immunodeficiency Clinic, Post Graduate Institute of Medical Education and Research, Chandigarh, India. Results: Median age at onset of symptoms was 6.25 years (range 1–25 years) and median age at diagnosis was 12 years (range 2-43 years). Serum complement C4 level was decreased in all patients. All patients had low C1- esterase inhibitor (C1-INH) quantitative level (type 1 HAE). SERPING1 gene sequencing could be carried out in 20 families. Of these, 11 were identified to have a pathogenic disease-causing variant in the SERPING1 gene. While 2 of these families had a previously reported mutation, remaining 9 families had novel pathogenic variants in SERPING1 gene. Because of non-availability of C1-INH therapy in India, all patients were given long term prophylaxis (attenuated androgens or tranexamic acid or a combination of the 2). Life-threatening episodes of laryngeal oedema were managed with fresh frozen plasma infusions. Only one disease related mortality was reported in the entire cohort. Conclusions: We report largest single centre cohort of patients with HAE from India. Attenuated androgens, fibrinolytic agents and fresh frozen plasma may be effectively used for management of HAE in resource limited settings.

Myriad faces of X-linked agammaglobulinemia in a young boyAuthors: Murugan Sudhakar1, Manpreet Arora1, Lesa Dawman1, Dharmagat Bhattarai1, Pratap Kumar Patra1, Ankur Kumar Jindal1, Ritambhra Nada2, Amit Rawat1, Karalanglin Tiewsoh1