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Infectious and non-infectious complications in primary immunodeficiency disorders: an autopsy study from North India.
- Source :
-
Journal of clinical pathology [J Clin Pathol] 2018 May; Vol. 71 (5), pp. 425-435. Date of Electronic Publication: 2017 Sep 28. - Publication Year :
- 2018
-
Abstract
- 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.<br />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.<br />Methods: Study includes a detailed clinico-pathological analysis of 10 proven and suspected cases of primary immunodeficiency disorders.<br />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.<br />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.<br />Competing Interests: Competing interests: None declared.<br /> (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)
- Subjects :
- Amyloidosis genetics
Amyloidosis immunology
Amyloidosis mortality
Autopsy
Biopsy
Cause of Death
Child
Child, Preschool
DNA Mutational Analysis
Developing Countries
Early Diagnosis
Female
Genetic Markers
Genetic Predisposition to Disease
Granulomatous Disease, Chronic genetics
Granulomatous Disease, Chronic immunology
Granulomatous Disease, Chronic mortality
Humans
Immunohistochemistry
Immunologic Deficiency Syndromes genetics
Immunologic Deficiency Syndromes immunology
Immunologic Deficiency Syndromes mortality
India
Infant
Infant, Newborn
Male
Mutation
Opportunistic Infections genetics
Opportunistic Infections immunology
Opportunistic Infections mortality
Phenotype
Predictive Value of Tests
Prognosis
Amyloidosis pathology
Granulomatous Disease, Chronic pathology
Immunocompromised Host
Immunologic Deficiency Syndromes pathology
Opportunistic Infections pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1472-4146
- Volume :
- 71
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of clinical pathology
- Publication Type :
- Academic Journal
- Accession number :
- 28970295
- Full Text :
- https://doi.org/10.1136/jclinpath-2017-204708