Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.

doi:10.1007/s10875-021-00967-y

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Article

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.

Journal of clinical immunology - 1 May 2021

Giardino Giuliana, Sharapova Svetlana O, Ciznar Peter, Dhalla Fatima, Maragliano Luca, Radha Rama Devi Akella, Islamoglu Candan, Ikinciogullari Aydan, Haskologlu Sule, Dogu Figen, Hanna-Wakim Rima, Dbaibo Ghassan, Chou Janet, Cirillo Emilia, Borzacchiello Carla, Kreins Alexandra Y, Worth Austen, Rota Ioanna A, Marques José G, Sayitoglu Muge, Firtina Sinem, Mahdi Moaffaq, Geha Raif, Neven Bénédicte, Sousa Ana E, Benfenati Fabio, Hollander Georg A, Davies E Graham, Pignata Claudio

Abstract excerpt

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...

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PMID: 33464451
DOI: 10.1007/s10875-021-00967-y
PMCID: PMC8068652

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