Research Topic

Immunity in Rare Metabolic Diseases

About this Research Topic

Rare metabolic diseases are chronic, progressive, and frequently take a life-threatening course. Although considered rare individually, together they affect quite a large percentage of the population. They comprise a broad spectrum of defective metabolic pathways and symptoms and the imbalance of metabolites often leads to an accumulation of one or several toxicants. Concurrently, metabolites necessary for the correct function of cellular processes are absent or not available at sufficient levels. Some inherited metabolic diseases are detected shortly after birth, while others go undetected for many years, especially if the initial symptoms are mild. As their cause lies in (a) defective gene(s), for most maintenance therapy is the only treatment currently available; however, it usually cannot reverse the damage that is already present and often comes with severe side effects.


While a lot of research has been dedicated to elucidating the underlying mechanisms of inherited metabolic diseases and to the development of new therapeutic means, little remains known about how the patients’ immune system is affected by the disease itself, by the treatment options and how it may contribute to the progression of the disease. This is somewhat surprising as a growing number of case reports and singular research papers provide evidence of compromised immunity. One of the better-studied disorders is Wilson disease, a copper-storage disorder, in which altered T- and B cell responses and an increased risk for certain infections have been known to contribute to disease progression. In recent years, more immune-related changes have been described, all of which point at the importance of considering immunity not only in the context of disease progression and for the development of new therapies such as gene therapy; but they also hint at the need for an adjustment of currently available treatment. Other rare metabolic diseases have recently been described as novel or potential immunodeficiencies, or their clinical manifestations are triggered because the immune system is affected. The same is likely to be true for many others but the relevant information is lacking.


The scope of this Research Topic is to generate a collection of state-of-the-art research articles on the diverse mechanisms in which immunity is affected in the context of a metabolite/metal imbalance, on how an altered immune status impacts on patient health, the progression of the disease, and how immunity is changed by/affects current and potential novel treatments. We welcome the submission of Original Research, Review, Mini-Review, and Clinical Trial articles covering, but not limited to, the following topics:


1. Altered immune status of patients/in animal models – impairment of immune cell function, altered cytokine profiles, immunology of the CNS, development of autoimmunity

2. Mechanisms leading to altered immunity

3. Characteristic immune changes/signatures that could potentially help in diagnosing a rare metabolic disease

4. Impact of existing therapies on immunity and the requirement for their adjustment

5. How an altered immune status affects existing and novel therapies



Keywords: Rare metabolic diseases, immunity, disease susceptibility, therapy, diagnosis


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Rare metabolic diseases are chronic, progressive, and frequently take a life-threatening course. Although considered rare individually, together they affect quite a large percentage of the population. They comprise a broad spectrum of defective metabolic pathways and symptoms and the imbalance of metabolites often leads to an accumulation of one or several toxicants. Concurrently, metabolites necessary for the correct function of cellular processes are absent or not available at sufficient levels. Some inherited metabolic diseases are detected shortly after birth, while others go undetected for many years, especially if the initial symptoms are mild. As their cause lies in (a) defective gene(s), for most maintenance therapy is the only treatment currently available; however, it usually cannot reverse the damage that is already present and often comes with severe side effects.


While a lot of research has been dedicated to elucidating the underlying mechanisms of inherited metabolic diseases and to the development of new therapeutic means, little remains known about how the patients’ immune system is affected by the disease itself, by the treatment options and how it may contribute to the progression of the disease. This is somewhat surprising as a growing number of case reports and singular research papers provide evidence of compromised immunity. One of the better-studied disorders is Wilson disease, a copper-storage disorder, in which altered T- and B cell responses and an increased risk for certain infections have been known to contribute to disease progression. In recent years, more immune-related changes have been described, all of which point at the importance of considering immunity not only in the context of disease progression and for the development of new therapies such as gene therapy; but they also hint at the need for an adjustment of currently available treatment. Other rare metabolic diseases have recently been described as novel or potential immunodeficiencies, or their clinical manifestations are triggered because the immune system is affected. The same is likely to be true for many others but the relevant information is lacking.


The scope of this Research Topic is to generate a collection of state-of-the-art research articles on the diverse mechanisms in which immunity is affected in the context of a metabolite/metal imbalance, on how an altered immune status impacts on patient health, the progression of the disease, and how immunity is changed by/affects current and potential novel treatments. We welcome the submission of Original Research, Review, Mini-Review, and Clinical Trial articles covering, but not limited to, the following topics:


1. Altered immune status of patients/in animal models – impairment of immune cell function, altered cytokine profiles, immunology of the CNS, development of autoimmunity

2. Mechanisms leading to altered immunity

3. Characteristic immune changes/signatures that could potentially help in diagnosing a rare metabolic disease

4. Impact of existing therapies on immunity and the requirement for their adjustment

5. How an altered immune status affects existing and novel therapies



Keywords: Rare metabolic diseases, immunity, disease susceptibility, therapy, diagnosis


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

30 July 2021 Abstract
29 October 2021 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

30 July 2021 Abstract
29 October 2021 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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