Journal article
Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations
- Abstract:
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Human nude SCID is a rare autosomal recessive inborn error of immunity (IEI) characterized by congenital athymia, alopecia, and nail dystrophy. Few cases have been reported to date. However, the recent introduction of newborn screening for IEIs and high-throughput sequencing has led to the identification of novel and atypical cases. Moreover, immunological alterations have been recently described in patients carrying heterozygous mutations. The aim of this paper is to describe the extended ph...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Version of record, 3.5MB)
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- Publisher copy:
- 10.1007/s10875-021-00967-y
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Authors
Funding
Italian Ministry of Health
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Bibliographic Details
- Publisher:
- Springer Publisher's website
- Journal:
- Journal of Clinical Immunology Journal website
- Volume:
- 41
- Issue:
- 4
- Pages:
- 756–768
- Publication date:
- 2021-01-19
- Acceptance date:
- 2021-01-06
- DOI:
- EISSN:
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1573-2592
- ISSN:
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0271-9142
- Pmid:
-
33464451
Item Description
- Language:
- English
- Keywords:
- Pubs id:
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1158151
- Local pid:
- pubs:1158151
- Deposit date:
- 2021-01-27
Terms of use
- Copyright holder:
- Giardino et al.
- Copyright date:
- 2021
- Rights statement:
- ©2021 The Author(s). Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
- Licence:
- CC Attribution (CC BY)
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