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Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations. 2021
Giuliana Giardino, and
Svetlana O Sharapova, and
Peter Ciznar, and
Fatima Dhalla, and
Luca Maragliano, and
Akella Radha Rama Devi, and
Candan Islamoglu, and
Aydan Ikinciogullari, and
Sule Haskologlu, and
Figen Dogu, and
Rima Hanna-Wakim, and
Ghassan Dbaibo, and
Janet Chou, and
Emilia Cirillo, and
Carla Borzacchiello, and
Alexandra Y Kreins, and
Austen Worth, and
Ioanna A Rota, and
José G Marques, and
Muge Sayitoglu, and
Sinem Firtina, and
Moaffaq Mahdi, and
Raif Geha, and
Bénédicte Neven, and
Ana E Sousa, and
Fabio Benfenati, and
Georg A Hollander, and
E Graham Davies, and
Claudio Pignata
Department of Translational Medical Sciences, Pediatrics Section, Federico II University of Naples, via S. Pansini 5, 80131, Naples, Italy.
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 phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations. We collected clinical and laboratory information of a cohort of 11 homozygous, 2 compound heterozygous, and 5 heterozygous patients with recurrent severe infections. All, except one heterozygous patient, had signs of CID or SCID. Nail dystrophy and alopecia, that represent the hallmarks of the syndrome, were not always present, while almost 50% of the patients developed Omenn syndrome. One patient with hypomorphic compound heterozygous mutations had a late-onset atypical phenotype. A SCID-like phenotype was observed in 4 heterozygous patients coming from the same family. A spectrum of clinical manifestations may be associated with different mutations. The severity of the clinical phenotype likely depends on the amount of residual activity of the gene product, as previously observed for other SCID-related genes. The severity of the manifestations in this heterozygous family may suggest a mechanism of negative dominance of the specific mutation or the presence of additional mutations in noncoding regions.
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