Pitfalls of genetic testing in a patient with IKBKG deficiency.

作者信息

Kilich Gonench, Patel Srushti, Hassey Kelly, Weinberger Tamar, Sullivan Kathleen E

机构信息

Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Division of Allergy Immunology, Hackensack University Medical Center, Hackensack, New Jersey.

出版信息

Ann Allergy Asthma Immunol. 2024 Oct;133(4):481-483. doi: 10.1016/j.anai.2024.06.018. Epub 2024 Jun 17.

DOI:10.1016/j.anai.2024.06.018

PMID:38897406

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11410526/

Abstract

摘要

相似文献

[1]

Pitfalls of genetic testing in a patient with IKBKG deficiency.

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[2]

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Long-read sequencing is required for precision diagnosis of incontinentia pigmenti.

HGG Adv. 2025-7-10

[6]

Derivation of human embryonic stem cells with NEMO deficiency.

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[7]

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Srp Arh Celok Lek. 2013

[8]

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[9]

EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.

Int Rev Immunol. 2015-8-13

[10]

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本文引用的文献

[1]

Reversion Mosaicism in Primary Immunodeficiency Diseases.

Front Immunol. 2021

[2]

Somatic Variants: New Kids on the Block in Human Immunogenetics.

Trends Genet. 2019-10-24

[3]

EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.

Int Rev Immunol. 2015-8-13

[4]

Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.

J Allergy Clin Immunol. 2008-12

[5]

IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.

J Allergy Clin Immunol. 2008-4

[6]

The NF-kappaB signaling pathway in human genetic diseases.

Cell Mol Life Sci. 2005-8

[7]

The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation.

J Allergy Clin Immunol. 2004-4

[8]

X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival.

Blood. 2004-6-15

[9]

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.

Am J Hum Genet. 2001-12

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Pitfalls of genetic testing in a patient with IKBKG deficiency.

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