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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 5/2021

01-07-2021 | Neutropenia | Letter to Editor

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

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

Published in: Journal of Clinical Immunology | Issue 5/2021

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Excerpt

Letter to Editor: …
Appendix
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Literature
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Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010;19(22):4453–61.CrossRef
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Colombo EA, Bazan JF, Negri G, Gervasini C, Elcioglu NH, Yucelten D, et al. Novel C16orf57 mutations in patients with poikiloderma with neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. Orphanet J Rare Dis. 2012;7:7.CrossRef
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Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD, McLean WH, et al. Identification of a novel C16orf57 mutation in Athabaskan patients with poikiloderma with neutropenia. Am J Med Genet A. 2011;155A(2):337–42.CrossRef
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Farruggia P, Indaco S, Dufour C, Lanza T, Mosa C, Macaluso A, et al. Poikiloderma with neutropenia: a case report and review of the literature. J Pediatr Hematol Oncol. 2014;36(4):297–300.CrossRef
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Van Hove JL, Jaeken J, Proesmans M, Boeck KD, Minner K, Matthijs G, et al. Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am J Med Genet A. 2005;132A(2):152–8.CrossRef
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Concolino D, Sestito S, Falvo F, Romano G, Ceravolo M, Anastasio E, et al. Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. Eur J Med Genet. 2019;62(1):73–6.CrossRef
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Concolino D, Roversi G, Muzzi GL, Sestito S, Colombo EA, Volpi L, et al. Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. Am J Med Genet A. 2010;152A(10):2588–94.CrossRef
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Patiroglu T, Akar HH. Clericuzio-type poikiloderma with neutropenia syndrome in a Turkish family: a three report of siblings with mutation in the C16orf57 gene. Iran J Allergy Asthma Immunol. 2015;14(3):331–7.PubMed
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Metadata
Title
Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia
Authors
Sevgi Bilgic Eltan
Asena Pınar Sefer
İbrahim Serhat Karakus
Ahmet Ozen
Elif Karakoc-Aydiner
Safa Baris
Publication date
01-07-2021
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 5/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-021-00998-5

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