Silvia Ricci Francesca Romano Francesco Nieddu Capucine Picard Chiara Azzari
10.1007/s10875-016-0350-x
J Clin Immunol
2017 Jan;37(1):7-11.
CC BY
https://pubmed.ncbi.nlm.nih.gov/27838798/
Ectodermal Dysplasia / diagnosis Genetic Diseases, X-Linked / diagnosis I-kappa B Kinase / genetics Immunologic Deficiency Syndromes / diagnosis Lymphedema / diagnosis Lymphohistiocytosis, Hemophagocytic / diagnosis Mutation / genetics Osteopetrosis / diagnosis
Ectodermal Dysplasia / diagnosis Genetic Diseases, X-Linked / diagnosis I-kappa B Kinase / genetics Immunologic Deficiency Syndromes / diagnosis Lymphedema / diagnosis Lymphohistiocytosis, Hemophagocytic / diagnosis Mutation / genetics Osteopetrosis / diagnosis Case Reports Letter Ectodermal Dysplasia / genetics Fatal Outcome Genetic Diseases, X-Linked / genetics Humans Immunologic Deficiency Syndromes / genetics Infant Lymphedema / genetics Lymphohistiocytosis, Hemophagocytic / genetics Male NF-kappa B / metabolism Osteopetrosis / genetics Primary Immunodeficiency Diseases Signal Transduction IKBKG protein, human NF-kappa B I-kappa B Kinase Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema
PMC5226985
27838798
OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH
2017