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

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

Giardino, G; Sharapova, SO; Ciznar, P; Dhalla, F; Maragliano, L; Devi, ARR; Islamoglu, C; Ikinciogullari, A; Haskologlu, S; Dogu, F; Hanna-Wakim, R; Dbaibo, G; Chou, J; Cirillo, E; Borzacchiello, C; Kreins, AY; Worth, A; Rota, IA; Marques, JG; Sayitoglu, M; Firtina, S; Mahdi, M; Geha, R; Neven, B; Sousa, AE; Benfenati, F; Hollander, GA; Davies, EG; Pignata, C

Pignata, C (corresponding author), Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, Italy.

Abstract

Human nude SCID is a rare autosomal recessive inborn error of immunity (IEI) characterized by congenital athymia, alopecia, and nail dystrophy. Few ca......

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

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