Article
Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.
Genes and immunity - 1 Aug 2023
Alizadeh Zahra, Fazlollahi Mohammad Reza, Mazinani Marzieh, Badalzadeh Mohsen, Heydarlou Hanieh, Carapito Raphael, Molitor Anne, de Oteyza Andrés Caballero Garcia, Proietti Michele, Bavani Maryam Soleimani, Shariat Mansoureh, Fallahpour Morteza, Movahedi Masoud, Moradi Leila, Grimbacher Bodo, Bahram Seiamak, Pourpak Zahra
Abstract excerpt
Severe combined immunodeficiency (SCID) is one of the severe inborn errors of the immune system associated with life-threatening infections. Variations in SCID phenotypes, especially atypical SCID, may cause a significant delay in diagnosis. Therefore, SCID patients need to receive an early diagnosis. Here, we describe the clinical manifestations and genetic results of four SCID and atypical SCID patients. All...
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