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Licensed Unlicensed Requires Authentication Published by De Gruyter December 16, 2020

Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches

Pelin Teke Kisa ORCID logo EMAIL logo and Nur Arslan ORCID logo


Inborn errors of metabolism consist of a heterogeneous group of disorders with various organ systems manifestations, and some metabolic diseases also cause immunological disorders or dysregulation. In this review, metabolic diseases that affect the immunological system and particularly lead to primary immune deficiency will be reviewed. In a patient with frequent infections and immunodeficiency, the presence of symptoms such as growth retardation, abnormal facial appearance, heart, skeletal, lung deformities, skin findings, arthritis, motor developmental retardation, seizure, deafness, hepatomegaly, splenomegaly, impairment of liver function tests, the presence of anemia, thrombocytopenia and eosinophilia in hematological examinations should suggest metabolic diseases for the underlying cause. In some patients, these phenotypic findings may appear before the immunodeficiency picture. Metabolic diseases leading to immunological disorders are likely to be rare but probably underdiagnosed. Therefore, the presence of recurrent infections or autoimmune findings in a patient with a suspected metabolic disease should suggest that immune deficiency may also accompany the picture, and diagnostic examinations in this regard should be deepened.

Nur Arslan, MD, PhD, Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey; and Department of Inborn Errors of Metabolism, Dokuz Eylul University Faculty of Medicine, Biomedicine and Genome Center (IBG-Izmir), Balcova, 35330, Izmir, Turkey, Phone: +90 90 2324126107, Fax: +90 90 2324126005, E-mail:

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.


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Received: 2020-05-15
Accepted: 2020-11-19
Published Online: 2020-12-16
Published in Print: 2021-03-26

© 2020 Walter de Gruyter GmbH, Berlin/Boston

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