AI Article Synopsis
- Immunological issues are now recognized as common symptoms in many inherited metabolic diseases (IMDs), including autoimmune responses and increased infections.
- A specific group of IMDs, known as congenital disorders of glycosylation (CDG), can even lead to primary immune deficiencies.
- Out of 171 IMDs examined, the majority show immune dysfunctions, with 84% linked to immunodeficiency and infections, 26% associated with innate immune defects, and 19% related to autoimmunity.
Article Abstract
Immunological problems are increasingly acknowledged manifestations in many inherited metabolic diseases (IMDs), ranging from exaggerated inflammation, autoimmunity and abnormal cell counts to recurrent microbial infections. A subgroup of IMDs, the congenital disorders of glycosylation (CDG), includes CDG types that are even classified as primary immunodeficiencies. Here, we reviewed the list of metabolic disorders reported to be associated with various immunological defects and identified 171 IMDs accompanied by immunological manifestations. Most IMDs are accompanied by immune dysfunctions of which immunodeficiency and infections, innate immune defects, and autoimmunity are the most common abnormalities reported in 144/171 (84%), 44/171 (26%) and 33/171 (19%) of IMDs with immune system involvement, respectively, followed by autoinflammation 17/171 (10%). This article belongs to a series aiming at creating and maintaining a comprehensive list of clinical and metabolic differential diagnoses according to organ system involvement.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182388 | PMC |
| http://dx.doi.org/10.1016/j.ymgme.2023.107582 | DOI Listing |
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