Satoshi Inaba Yuta Aizawa Yuki Miwa Chihaya Imai Hidenori Ohnishi Hirokazu Kanegane Akihiko Saitoh
10.3389/fimmu.2021.786164
Front Immunol
2021 Dec 22;12:786164.
nemo anhidrotic ectodermal dysplasia with immunodeficiency (eda-id) case report hyper igm syndrome preserved umbilical cord
CC BY
https://pubmed.ncbi.nlm.nih.gov/35003103/
Ectodermal Dysplasia / diagnosis Genetic Diseases, X-Linked / diagnosis I-kappa B Kinase / genetics Osteomyelitis / diagnosis Pneumococcal Infections / diagnosis Primary Immunodeficiency Diseases / diagnosis Umbilical Cord / pathology
Ectodermal Dysplasia / diagnosis Genetic Diseases, X-Linked / diagnosis I-kappa B Kinase / genetics Osteomyelitis / diagnosis Pneumococcal Infections / diagnosis Primary Immunodeficiency Diseases / diagnosis Umbilical Cord / pathology Case Reports Research Support, Non-U.S. Gov't DNA Mutational Analysis Delayed Diagnosis Ectodermal Dysplasia / complications Ectodermal Dysplasia / genetics Ectodermal Dysplasia / immunology Genetic Diseases, X-Linked / complications Genetic Diseases, X-Linked / genetics Genetic Diseases, X-Linked / immunology Humans Infant Male Osteomyelitis / genetics Osteomyelitis / immunology Osteomyelitis / microbiology Pedigree Pneumococcal Infections / genetics Pneumococcal Infections / immunology Pneumococcal Infections / microbiology Primary Immunodeficiency Diseases / complications Primary Immunodeficiency Diseases / genetics Primary Immunodeficiency Diseases / immunology Streptococcus pneumoniae / immunology Streptococcus pneumoniae / isolation & purification IKBKG protein, human I-kappa B Kinase Ectodermal dysplasia, hypohidrotic, with immune deficiency
PMC8727435
35003103
Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles
2021