Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia

Sevgi Bilgic Eltan; Asena Pınar Sefer; İbrahim Serhat Karakus; Ahmet Ozen; Elif Karakoc-Aydiner; Safa Baris

doi:10.1007/s10875-021-00998-5

Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia

J Clin Immunol. 2021 Jul;41(5):1106-1111. doi: 10.1007/s10875-021-00998-5. Epub 2021 Feb 23.

Authors

Sevgi Bilgic Eltan^{1

2

3}, Asena Pınar Sefer^{1

2

3}, İbrahim Serhat Karakus⁴, Ahmet Ozen^{1

2

3}, Elif Karakoc-Aydiner^{1

2

3}, Safa Baris^{5

6

7}

Affiliations

¹ School of Medicine, Division of Pediatric Allergy and Immunology, Marmara University, 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 School of Medicine, Marmara University, Istanbul, Turkey.
⁵ School of Medicine, Division of Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey. [email protected].
⁶ Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey. [email protected].
⁷ The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey. [email protected].

PMID: 33624217
DOI: 10.1007/s10875-021-00998-5

No abstract available

Keywords: Clericuzio-type poikiloderma; Lymphopenia; Neutropenia; USB1.

Publication types

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

MeSH terms

Child
Female
Humans
Immunoglobulins / blood
Killer Cells, Natural / immunology*
Leukocyte Count
Lymphopenia* / genetics
Lymphopenia* / immunology
Mutation
Neutropenia* / genetics
Neutropenia* / immunology
Phosphoric Diester Hydrolases / genetics*
Skin Abnormalities* / genetics
Skin Abnormalities* / immunology
T-Lymphocytes / immunology*

Substances

Immunoglobulins
Phosphoric Diester Hydrolases
USB1 protein, human

Supplementary concepts

Poikiloderma with Neutropenia