Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
http://link.springer.com/content/pdf/10.1007/s10875-020-00815-5.pdf
Reference18 articles.
1. Clericuzio C, Hoyme HE, Asse JM. Immune deficient poikiloderma: a new genodermatosis. Am J Hum Genet. 1991;49(Suppl):A661.
2. 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.
3. Mostefai R, Morice-Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, et al. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet. 2008;146A:2762–9.
4. Colombo EA, Carra S, Fontana L, Bresciani E, Cotelli F, Larizza L. A zebrafish model of Poikiloderma with neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor. Sci Rep. 2015;5:15814.
5. Mills JA, Hudock KM, Sullivan SK, Herrera P, Sullivan LM, Gadue P, et al. Generation of poikiloderma with neutopenia (PN) induced pluripotent stem cells (iPSCs). Stem Cell Res. 2015;15:595–7.
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1. Defective monocyte plasticity and altered cAMP pathway characterize USB1‐mutated poikiloderma with neutropenia Clericuzio type;British Journal of Haematology;2023-10
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