Background Primary immunodeficiency disorders (PID) include a wide spectrum of inherited disorders characterised by functional abnormalities of one or more components of the immune system. Recent updates from the genomic data have contributed significantly to its better understanding with identification of new entities. Diagnosis is always challenging due to their variable clinical presentation. With the evolution of molecular diagnosis, many of these children are being diagnosed early and offered appropriate therapy. However, in developing countries, early diagnosis is still not being made: as a result these patients succumb to their disease. Autopsy data on PID is notably lacking in the literature with histopathological evaluation of PID being limited to rare case reports.
Objective To analyse the clinical, immunologic (including mutational) and morphologic features at autopsy in 10 proven and suspected cases of primary immunodeficiency disorders diagnosed at our Institute over the past decade.
Methods Study includes a detailed clinico-pathological analysis of 10 proven and suspected cases of primary immunodeficiency disorders.
Results A varied spectrum of infectious and non-infectious complications were identified in these cases of which fungal infections were found to be more frequent compared with viral or bacterial infections. Rare and novel morphological findings, like granulomatous involvement of the heart in a patient with chronic granulomatous disease, systemic amyloidosis in a teenage girl with X-linked agammaglobulinemia, are highlighted which is distinctly lacking in the literature.
Conclusions The present study is perhaps the first autopsy series on PID. Even in the molecular era, such analysis is still important, as correlation of pathological features with clinical symptoms provides clues for a timely diagnosis and appropriate therapeutic intervention.
- autopsy pathology
- paediatric pathology
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KG and AR contributed equally.
Handling editor Dhirendra Govender.
Contributors KG: conceptualised the idea, performed the pathology work-up, autopsy analysis and diagnosis, and drafted the manuscript; AR: contributed to drafting and critical analysis of the manuscript, performed the immunological work-up and mutational analysis interpretation; PA: contributed to the autopsy analysis; AJ: contributed to management of the patients; RN: contributed to autopsy analysis and diagnosis; BS: performed the immunological work-up and contributed to critical analysis of the manuscript; KWC and YLL: performed the mutational analysis; RWM: supervised the immunological work-up; SS: managed the patients clinically, supervised the immunological work-up and contributed to drafting and critical analysis of the manuscript.All authors have read and approved the manuscript.
Funding Authors thankfully acknowledge Indian Council of Medical Research (ICMR), New Delhi, India and Dept. of Health Research, Ministry of Health and Family Welfare, Govt. of India, New Delhi, India for funding vide Grant No./48/2014-DHR and Foundation for Primary Immunodeficiencies (FPID), USA.
Competing interests None declared.
Patient consent Guardian consent obtained.
Ethics approval Institute’s Ethics Review Board.
Provenance and peer review Not commissioned; externally peer reviewed.
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