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

Front Immunol. 2021 Dec 22:12:786164. doi: 10.3389/fimmu.2021.786164. eCollection 2021.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Delayed Diagnosis
  • Ectodermal Dysplasia / complications
  • Ectodermal Dysplasia / diagnosis*
  • Ectodermal Dysplasia / genetics
  • Ectodermal Dysplasia / immunology
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / immunology
  • Humans
  • I-kappa B Kinase / genetics*
  • Infant
  • Male
  • Osteomyelitis / diagnosis*
  • Osteomyelitis / genetics
  • Osteomyelitis / immunology
  • Osteomyelitis / microbiology
  • Pedigree
  • Pneumococcal Infections / diagnosis*
  • Pneumococcal Infections / genetics
  • Pneumococcal Infections / immunology
  • Pneumococcal Infections / microbiology
  • Primary Immunodeficiency Diseases / complications
  • Primary Immunodeficiency Diseases / diagnosis*
  • Primary Immunodeficiency Diseases / genetics
  • Primary Immunodeficiency Diseases / immunology
  • Streptococcus pneumoniae / immunology
  • Streptococcus pneumoniae / isolation & purification
  • Umbilical Cord / pathology*

Substances

  • IKBKG protein, human
  • I-kappa B Kinase

Supplementary concepts

  • Ectodermal dysplasia, hypohidrotic, with immune deficiency