Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles

Family history is one key in diagnosing inborn errors of immunity (IEI); however, disease status is difficult to determine in deceased relatives. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is one of the hyper IgM syndromes that is caused by a hypomorphic variant in the nuclear fa...

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Autores principales: Inaba, Satoshi, Aizawa, Yuta, Miwa, Yuki, Imai, Chihaya, Ohnishi, Hidenori, Kanegane, Hirokazu, Saitoh, Akihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8727435/
https://www.ncbi.nlm.nih.gov/pubmed/35003103
http://dx.doi.org/10.3389/fimmu.2021.786164
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author Inaba, Satoshi
Aizawa, Yuta
Miwa, Yuki
Imai, Chihaya
Ohnishi, Hidenori
Kanegane, Hirokazu
Saitoh, Akihiko
author_facet Inaba, Satoshi
Aizawa, Yuta
Miwa, Yuki
Imai, Chihaya
Ohnishi, Hidenori
Kanegane, Hirokazu
Saitoh, Akihiko
author_sort Inaba, Satoshi
collection PubMed
description Family history is one key in diagnosing inborn errors of immunity (IEI); however, disease status is difficult to determine in deceased relatives. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is one of the hyper IgM syndromes that is caused by a hypomorphic variant in the nuclear factor kappa beta essential modulator. We identified a novel IKBKG variant in a 7-month-old boy with pneumococcal rib osteomyelitis and later found that his mother has incontinentia pigmenti. Genetic analysis of preserved umbilical cords revealed the same variant in two of his deceased maternal uncles. Analysis of preserved umbilical cord tissue from deceased relatives can provide important information for diagnosing IEI in their descendants.
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spelling pubmed-87274352022-01-06 Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles Inaba, Satoshi Aizawa, Yuta Miwa, Yuki Imai, Chihaya Ohnishi, Hidenori Kanegane, Hirokazu Saitoh, Akihiko Front Immunol Immunology Family history is one key in diagnosing inborn errors of immunity (IEI); however, disease status is difficult to determine in deceased relatives. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is one of the hyper IgM syndromes that is caused by a hypomorphic variant in the nuclear factor kappa beta essential modulator. We identified a novel IKBKG variant in a 7-month-old boy with pneumococcal rib osteomyelitis and later found that his mother has incontinentia pigmenti. Genetic analysis of preserved umbilical cords revealed the same variant in two of his deceased maternal uncles. Analysis of preserved umbilical cord tissue from deceased relatives can provide important information for diagnosing IEI in their descendants. Frontiers Media S.A. 2021-12-22 /pmc/articles/PMC8727435/ /pubmed/35003103 http://dx.doi.org/10.3389/fimmu.2021.786164 Text en Copyright © 2021 Inaba, Aizawa, Miwa, Imai, Ohnishi, Kanegane and Saitoh https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Inaba, Satoshi
Aizawa, Yuta
Miwa, Yuki
Imai, Chihaya
Ohnishi, Hidenori
Kanegane, Hirokazu
Saitoh, Akihiko
Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles
title Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles
title_full Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles
title_fullStr Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles
title_full_unstemmed Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles
title_short Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles
title_sort case report: analysis of preserved umbilical cord clarified x-linked anhidrotic ectodermal dysplasia with immunodeficiency in deceased, undiagnosed uncles
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8727435/
https://www.ncbi.nlm.nih.gov/pubmed/35003103
http://dx.doi.org/10.3389/fimmu.2021.786164
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