Immunophenotypic analysis of lymphocyte subsets in newborns with biotinidase deficiency

Murat Karaoglan; Gulper Nacarkahya; Mehmet Keskin; Ozlem Keskin

doi:10.1111/pai.13416

Immunophenotypic analysis of lymphocyte subsets in newborns with biotinidase deficiency

Pediatr Allergy Immunol. 2021 Apr;32(3):586-598. doi: 10.1111/pai.13416. Epub 2020 Dec 27.

Authors

Murat Karaoglan¹, Gulper Nacarkahya², Mehmet Keskin¹, Ozlem Keskin³

Affiliations

¹ Department of Pediatric Endocrinology and Metabolism, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey.
² Department of Molecular Biology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey.
³ Deaprtment of Pediatric Allergy and Immunology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey.

PMID: 33217065
DOI: 10.1111/pai.13416

Abstract

Background/aim: Biotin is a vital micronutrient that plays a role in metabolic homeostasis and the regulation of innate and adaptive immune system functions. Biotinidase deficiency (BTD) leads to impairment in biotin-dependent immune functions. This study focused on immunophenotypic analysis of lymphocyte subsets in newborns with BTD.

Patients and methods: A total of 181 (95 female and 86 male; 114 had BTD and 67 were healthy) newborns underwent biotinidase enzyme activity, molecular and lymphocyte immunophenotyping analyses. BTD is classified into four biochemical phenotypes: profound, partial, heterozygous and normal. The following lymphocyte subsets were studied in all participants: total B lymphocyte (CD19), total T lymphocyte (CD3), helper T lymphocyte (CD3/CD4), cytotoxic T lymphocyte (CTL) (CD3/CD8), natural killer T lymphocyte (CD16/56) and a T-lymphocyte activation marker (HLA-DR).

Results: The percentages of lymphocyte subsets were similar in newborns with and without BTD. In all newborns with BTD, the mean CD3/CD4 levels were higher in females, while the CD3/CD8 levels were higher in males (P < .001 for each). In female and male newborns, the CD3/CD4 levels were 53.83 ± 9.46 and 16.82 ± 5.19, respectively, and the CD3/CD8 levels were 48.80 ± 8.65 and 21.48 ± 6.02, respectively. A moderate negative correlation was found between CD3/CD4 and CD3/CD8 in female and male newborns (r_female = -0.488, r_male = -0.574, P < .001).

Conclusion: This study showed that although there were no differences in the lymphocyte subsets in newborns with BTD, the CD3/CD4 levels were higher in females, and the CD3/CD8 levels were higher in males. In addition, there was a negative correlation between the CD3/CD4 and CD3/CD8 levels in both genders. Although these results indicate sexual dimorphism between CD3/CD4 and CD3/CD8 levels, whether this dissociation is unique to BTD in newborns is not fully clear.

Keywords: biotinidase deficiency; lymphocyte immunophenotyping; sexual immune dimorphism.

MeSH terms

Biotinidase Deficiency*
Female
Flow Cytometry
Humans
Immunophenotyping
Infant, Newborn
Killer Cells, Natural
Lymphocyte Count
Lymphocyte Subsets
Male
T-Lymphocyte Subsets