由于白细胞介素7受体（IL7R）突变导致的重症联合免疫缺陷（SCID）中的不寻常皮肤表现和免疫表型：全外显子测序的价值及新生儿筛查的潜在益处 - Suppr

Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.

作者信息

Marquardt L, Lacour M, Hoernes M, Opitz L, Lecca R, Volkmer B, Reichenbach J, Hohl D, Ansari M, Ozsahin H, Güngör T, Pachlopnik Schmid J

机构信息

Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.

Paediatric Practice, Carouge, Switzerland.

出版信息

J Eur Acad Dermatol Venereol. 2017 Mar;31(3):e147-e148. doi: 10.1111/jdv.13888. Epub 2016 Sep 5.

DOI:10.1111/jdv.13888

PMID:27593400

Abstract

摘要

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Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.

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引用本文的文献

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Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.

作者信息

Marquardt L, Lacour M, Hoernes M, Opitz L, Lecca R, Volkmer B, Reichenbach J, Hohl D, Ansari M, Ozsahin H, Güngör T, Pachlopnik Schmid J

机构信息

Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.

Paediatric Practice, Carouge, Switzerland.

出版信息

J Eur Acad Dermatol Venereol. 2017 Mar;31(3):e147-e148. doi: 10.1111/jdv.13888. Epub 2016 Sep 5.

DOI:10.1111/jdv.13888

PMID:27593400

Abstract

摘要

相似文献

Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.

J Eur Acad Dermatol Venereol. 2017 Mar;31(3):e147-e148. doi: 10.1111/jdv.13888. Epub 2016 Sep 5.

A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing.

J Microbiol Immunol Infect. 2020 Feb;53(1):99-105. doi: 10.1016/j.jmii.2018.02.003. Epub 2018 Mar 2.

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

J Allergy Clin Immunol. 2012 Dec;130(6):1414-6. doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25.

A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.

BMC Med Genomics. 2023 Dec 11;16(1):323. doi: 10.1186/s12920-023-01765-8.

Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report.

J Allergy Clin Immunol Pract. 2017 Sep-Oct;5(5):1442-1444. doi: 10.1016/j.jaip.2017.03.004. Epub 2017 Apr 21.

Exfoliative erythroderma, recurrent infections, generalized lymphadenopathy and hepatosplenomegaly in a newborn: Omenn syndrome.

Australas J Dermatol. 2007 May;48(2):133-4. doi: 10.1111/j.1440-0960.2007.00354.x.

Whole-exome sequencing of T B severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants.

Clin Exp Immunol. 2021 Mar;203(3):448-457. doi: 10.1111/cei.13536. Epub 2020 Nov 2.

MHC II deficient infant identified by newborn screening program for SCID.

Immunol Res. 2018 Aug;66(4):537-542. doi: 10.1007/s12026-018-9019-2.

Newborn screening for SCID identifies patients with ataxia telangiectasia.

J Clin Immunol. 2013 Apr;33(3):540-9. doi: 10.1007/s10875-012-9846-1. Epub 2012 Dec 20.

Mutational landscape of severe combined immunodeficiency patients from Turkey.

Int J Immunogenet. 2020 Dec;47(6):529-538. doi: 10.1111/iji.12496. Epub 2020 May 22.

引用本文的文献

Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform.

J Clin Immunol. 2024 Apr 8;44(4):96. doi: 10.1007/s10875-024-01688-8.

Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening.

J Clin Immunol. 2024 Jan 2;44(1):39. doi: 10.1007/s10875-023-01640-2.

Whole-exome sequencing of T B severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants.

Clin Exp Immunol. 2021 Mar;203(3):448-457. doi: 10.1111/cei.13536. Epub 2020 Nov 2.

Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.

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Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.

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