ArticleJournal of clinical and diagnostic research : JCDR2015
Chronic Granulomatous Disease.
Article in Journal of clinical and diagnostic research : JCDR, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Discoid lupus erythematosus associated with chronic granulomatous disease.Dermatology reports · 2024Article
- Case Report: Symptomatic Chronic Granulomatous Disease in the Newborn.Frontiers in immunology · 2021Review
- Macrophage activation syndrome/haemophagocytic lymphohistiocytosis secondary toBMJ case reports · 2019Article
- Papulopustular Dermatitis in X-Linked Chronic Granulomatous Disease.Frontiers in pediatrics · 2018Article
- How We Manage Invasive Fungal Disease in Acute Myeloid Leukemia Patients with Glucose 6 Dehydrogenase Deficiency.Mediterranean journal of hematology and infectious diseases · 2017Article
- Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease.Frontiers in immunology · 2017Article
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chronic Granulomatous Disease (CGD) is an inherited immunodeficiency disorder characterized by defective functioning of NADPH oxidase enzyme in the phagocytes. This leads to recurrent infections by catalase positive organisms and later, granuloma formation in multiple organs. This condition usually presents in the age group of 2-5 y and is uncommon in neonates. In this case report, we describe a rare case of CGD in a 40-day-old male child who initially presented with a history of erythematous pustular rash on left forearm and refusal to feeds. He remained unresponsive to regular antibiotics. CT chest and abdomen revealed multiple ill-defined lesions suggestive of granulomas or developing abscesses. Immunodeficiency workup showed negative Nitroblue Tetrazolium test and positive Dihydrorhodamine test (flow cytometry). A diagnosis of CGD was then made and treated accordingly. The aim of this report is to highlight the fact that although it is rare for CGD to present at such an early age, but in a neonate with multiple granulomas or abscesses, it should be considered as a differential and worked up accordingly. Early diagnosis and treatment can significantly improve the prognosis.
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