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Journal article

Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations

Abstract:

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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Publisher copy:
10.1007/s10875-021-00967-y

Authors


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Italian Ministry of Health More from this funder
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:
1573-2592
ISSN:
0271-9142
Pmid:
33464451
Language:
English
Keywords:
Pubs id:
1158151
Local pid:
pubs:1158151
Deposit date:
2021-01-27

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