A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells

Asena Pınar Sefer; Louis Marie Charbonnier; Nurhan Kasap; Bengu Akcam; Yasemin Kendir Demirkol; Sevgi Bilgic Eltan; Ahmet Ozen; Elif Karakoc-Aydiner; Safa Baris

doi:10.1007/s10875-020-00889-1

A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells

J Clin Immunol. 2021 Jan;41(1):251-255. doi: 10.1007/s10875-020-00889-1. Epub 2020 Oct 10.

Authors

Asena Pınar Sefer^{1

2

3}, Louis Marie Charbonnier⁴, Nurhan Kasap^{1

2

3}, Bengu Akcam^{1

2

3}, Yasemin Kendir Demirkol⁵, Sevgi Bilgic Eltan^{1

2

3}, Ahmet Ozen^{1

2

3}, Elif Karakoc-Aydiner^{1

2

3}, Safa Baris^{6

7

8}

Affiliations

¹ School of Medicine, Division of Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.
² Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.
³ The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.
⁴ Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
⁵ Umraniye Education and Research Hospital, Department of Pediatric Genetics, Health Science University, Istanbul, Turkey.
⁶ School of Medicine, Division of Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey. [email protected].
⁷ Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey. [email protected].
⁸ The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey. [email protected].

PMID: 33040278
DOI: 10.1007/s10875-020-00889-1

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
B-Lymphocytes / metabolism*
Biomarkers
DNA Mutational Analysis
Disease Management
Female
Genetic Association Studies* / methods
Genetic Predisposition to Disease*
Genotype
Humans
Immunoglobulins, Intravenous / therapeutic use
Inducible T-Cell Co-Stimulator Protein / genetics*
Lymphocyte Count
Lymphopenia / diagnosis*
Lymphopenia / genetics*
Lymphopenia / therapy
Mutation*
Phenotype

Substances

Biomarkers
ICOS protein, human
Immunoglobulins, Intravenous
Inducible T-Cell Co-Stimulator Protein