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Article

Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.

Journal of clinical immunology - 1 Aug 2020

Akdogan Neslihan, Kindis Erdem, Bostan Ecem, Utine Eda, Alikasifoglu Mehmet, Ersoy-Evans Sibel

Abstract excerpt

Poikiloderma with neutropenia (PN), Clericuzio-type is a rare autosomal recessively transmitted genodermatosis caused by biallelic mutations in the USB1 gene and is characterized by early-onset poikiloderma and chronic neutropenia. Nail dystrophy, palmoplantar hyperkeratosis, hypogonadotropic hypogonadism, and recurrent infections can be associated with the disease. Herein, we present a 27-year-old Turkish male...

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Disease Susceptibility
Immunoglobulins
Lymphocyte Subsets
Neutropenia
Osteomyelitis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phosphoric Diester Hydrolases

Skin Abnormalities

Symptom Assessment

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PMID: 32620997
DOI: 10.1007/s10875-020-00815-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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