article_metadata: Silvia Ricci Francesca Romano Francesco Nieddu Capucine Picard Chiara Azzari
article_metadata: 10.1007/s10875-016-0350-x
article_metadata: J Clin Immunol
article_metadata: 2017 Jan;37(1):7-11.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/27838798/
article_metadata: 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
article_metadata: 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
article_metadata: PMC5226985
article_metadata: 27838798
article_metadata: OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH
article_metadata: 2017