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Published in: Journal of Clinical Immunology 4/2020

01-05-2020 | Anakinra | Letter to Editor

Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)

Authors: Vahid Ziaee, Leila Youssefian, Masoomeh Faghankhani, Ali Jazayeri, Amir Hossein Saeidian, Hassan Vahidnezhad, Jouni Uitto

Published in: Journal of Clinical Immunology | Issue 4/2020

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Excerpt

To the Editor: …
Literature
15.
go back to reference Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Abiri M, Sotoudeh S, et al. Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. Exp Derm. 2019;28(10):1118–21. https://doi.org/10.1111/exd.13501.CrossRefPubMed Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Abiri M, Sotoudeh S, et al. Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. Exp Derm. 2019;28(10):1118–21. https://​doi.​org/​10.​1111/​exd.​13501.CrossRefPubMed
16.
go back to reference Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, et al. Mutations in PLOD3, encoding lysyl hydroxylase 3, cause syndromic recessive dystrophic epidermolyis bullosa-like phenotype with abnormal anchoring fibrils and deficiency in type VII collagen. Matrix Biol. 2019;81:91–106.CrossRef Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, et al. Mutations in PLOD3, encoding lysyl hydroxylase 3, cause syndromic recessive dystrophic epidermolyis bullosa-like phenotype with abnormal anchoring fibrils and deficiency in type VII collagen. Matrix Biol. 2019;81:91–106.CrossRef
Metadata
Title
Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)
Authors
Vahid Ziaee
Leila Youssefian
Masoomeh Faghankhani
Ali Jazayeri
Amir Hossein Saeidian
Hassan Vahidnezhad
Jouni Uitto
Publication date
01-05-2020
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 4/2020
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-020-00767-w

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