Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. [electronic resource]
- Journal of clinical immunology Jul 2017
- 397-412 p. digital
Publication Type: Journal Article; Review
1573-2592
10.1007/s10875-017-0400-z doi
Alleles Animals Enzyme Activation Gain of Function Mutation Gene Expression Regulation Genetic Association Studies Genetic Predisposition to Disease Germ-Line Mutation Hematopoietic Stem Cell Transplantation Heterozygote Humans Immunity--genetics Immunologic Deficiency Syndromes--diagnosis NF-KappaB Inhibitor alpha--genetics Organ Specificity--genetics Phenotype Phosphorylation Proteolysis Severity of Illness Index Treatment Outcome