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

Satoshi Inaba; Yuta Aizawa; Yuki Miwa; Chihaya Imai; Hidenori Ohnishi; Hirokazu Kanegane; Akihiko Saitoh

doi:10.3389/fimmu.2021.786164

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

Satoshi Inaba, Yuta Aizawa^*, Yuki Miwa, Chihaya Imai, Hidenori Ohnishi, Hirokazu Kanegane, Akihiko Saitoh

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

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.

Original language	English
Article number	786164
Journal	Frontiers in Immunology
Volume	12
DOIs	https://doi.org/10.3389/fimmu.2021.786164
State	Published - 2021/12/22

Keywords

NEMO
anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID)
case report
hyper IgM syndrome
preserved umbilical cord

ASJC Scopus subject areas

Immunology and Allergy
Immunology

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10.3389/fimmu.2021.786164

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

abstract = "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.",

keywords = "NEMO, anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), case report, hyper IgM syndrome, preserved umbilical cord",

author = "Satoshi Inaba and Yuta Aizawa and Yuki Miwa and Chihaya Imai and Hidenori Ohnishi and Hirokazu Kanegane and Akihiko Saitoh",

note = "Publisher Copyright: Copyright {\textcopyright} 2021 Inaba, Aizawa, Miwa, Imai, Ohnishi, Kanegane and Saitoh.",

year = "2021",

month = dec,

day = "22",

doi = "10.3389/fimmu.2021.786164",

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AU - Inaba, Satoshi

AU - Aizawa, Yuta

AU - Miwa, Yuki

AU - Imai, Chihaya

AU - Ohnishi, Hidenori

AU - Kanegane, Hirokazu

AU - Saitoh, Akihiko

PY - 2021/12/22

Y1 - 2021/12/22

N2 - 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.

AB - 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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KW - case report

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

Abstract

Keywords

ASJC Scopus subject areas

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