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

Kisa P., ARSLAN N.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.34, no.3, pp.277-294, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 34 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.1515/jpem-2020-0277
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.277-294
  • Keywords: autoimmunity, immunodeficiency, inborn errors of metabolism, infection, NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY, MEVALONATE KINASE-DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, AICARDI-GOUTIERES-SYNDROME, ADENOSINE-DEAMINASE, T-CELL, NEUTROPHIL DYSFUNCTION, CLINICAL PRESENTATION, CONGENITAL DISORDERS, PROPIONIC ACIDEMIA
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.