Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing-Reference-Cited by-同舟云学术

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

Published:2023-07-29 Issue:4 Volume:24 Page:207-214
ISSN:1476-5470
Container-title:Genes & Immunity
language:en
Short-container-title:Genes Immun

Author:

Alizadeh Zahra,Fazlollahi Mohammad Reza,Mazinani Marzieh,Badalzadeh Mohsen,Heydarlou Hanieh,Carapito Raphael^ORCID,Molitor Anne,de Oteyza Andrés Caballero Garcia^ORCID,Proietti Michele,Bavani Maryam Soleimani,Shariat Mansoureh,Fallahpour Morteza,Movahedi Masoud,Moradi Leila,Grimbacher Bodo,Bahram Seiamak^ORCID,Pourpak Zahra^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Immunology

Link

https://www.nature.com/articles/s41435-023-00215-w.pdf

Reference34 articles.

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2. Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Prim. 2015;1:15061.

3. Fazlollahi MR, Pourpak Z, Hamidieh AA, Movahedi M, Houshmand M, Badalzadeh M, et al. Clinical, laboratory, and molecular findings for 63 patients with severe combined immunodeficiency: a decade´s experience. J Investig Allergol Clin Immunol. 2017;27:299–304.

4. Cirillo E, Cancrini C, Azzari C, Martino S, Martire B, Pession A, et al. Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: report of the Italian primary immunodeficiency network. Front Immunol. 2019;10:1908.

5. Lim CK, Abolhassani H, Appelberg SK, Sundin M, Hammarstrom L. IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature. Allergy Asthma Clin Immunol. 2019;15:2.

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