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IKBKG (NEMO) 5' Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections.
- Source :
-
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America [Clin Infect Dis] 2018 Jul 18; Vol. 67 (3), pp. 456-459. - Publication Year :
- 2018
-
Abstract
- Four patients with adult-onset, disseminated mycobacterial infection had 5' UTR mutations in IKBKG without clear physical stigmata of NEMO deficiency. These mutations caused decreased levels of NEMO protein and Toll-like receptor driven cytokine production. Three patients died from disseminated disease. These mutations may be missed by whole exome sequencing.
- Subjects :
- Adult
Ectodermal Dysplasia microbiology
Genetic Diseases, X-Linked microbiology
Humans
Immunologic Deficiency Syndromes microbiology
Male
Mutation
Mycobacterium Infections blood
Mycobacterium Infections mortality
Primary Immunodeficiency Diseases
Signal Transduction
Skin microbiology
Skin pathology
Ectodermal Dysplasia complications
Genetic Diseases, X-Linked complications
I-kappa B Kinase genetics
Immunologic Deficiency Syndromes complications
Mycobacterium Infections genetics
RNA Splice Sites
Subjects
Details
- Language :
- English
- ISSN :
- 1537-6591
- Volume :
- 67
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
- Publication Type :
- Academic Journal
- Accession number :
- 29534156
- Full Text :
- https://doi.org/10.1093/cid/ciy186