Article ; Online: Heterozygous IKKβ activation loop mutation results in a complex immunodeficiency syndrome.
The Journal of allergy and clinical immunology
2020 Volume 147, Issue 2, Page(s) 737–740.e6
MeSH term(s) | Adult ; Bronchiectasis ; Fatal Outcome ; Hemorrhage ; Heterozygote ; Humans ; I-kappa B Kinase/genetics ; Immunologic Deficiency Syndromes/diagnosis ; Infections ; Lung/pathology ; Male ; Mutation/genetics ; Pedigree ; Protein Conformation ; Respiratory Insufficiency |
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Chemical Substances | I-kappa B Kinase (EC 2.7.11.10) ; IKBKB protein, human (EC 2.7.11.10) |
Language | English |
Publishing date | 2020-06-15 |
Publishing country | United States |
Document type | Case Reports ; Letter ; Research Support, N.I.H., Extramural |
ZDB-ID | 121011-7 |
ISSN | 1097-6825 ; 1085-8725 ; 0091-6749 |
ISSN (online) | 1097-6825 ; 1085-8725 |
ISSN | 0091-6749 |
DOI | 10.1016/j.jaci.2020.06.007 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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