Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing

Alizadeh, Z., M. R. Fazlollahi, M. Mazinani, M. Badalzadeh, H. Heydarlou, R. Carapito, A. Molitor, A. C. G. de Oteyza, M. Proietti, M. S. Bavani, M. Shariat, M. Fallahpour, M. Movahedi, L. Moradi, B. Grimbacher, S. Bahram, and Z. Pourpak. 2023. 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 Immun 24: 207-214. doi: 10.1038/s41435-023-00215-w.

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This post was written by Heike Ufheil