TY  - GEN
AU  - Boisson,Bertrand
AU  - Puel,Anne
AU  - Picard,Capucine
AU  - Casanova,Jean-Laurent
TI  - Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency
SN  - 1573-2592
PY  - 2018///0326
KW  - Alleles
KW  - Animals
KW  - Enzyme Activation
KW  - Gain of Function Mutation
KW  - Gene Expression Regulation
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Germ-Line Mutation
KW  - Hematopoietic Stem Cell Transplantation
KW  - Heterozygote
KW  - Humans
KW  - Immunity
KW  - genetics
KW  - Immunologic Deficiency Syndromes
KW  - diagnosis
KW  - NF-KappaB Inhibitor alpha
KW  - Organ Specificity
KW  - Phenotype
KW  - Phosphorylation
KW  - Proteolysis
KW  - Severity of Illness Index
KW  - Treatment Outcome
N1  - Publication Type: Journal Article; Review
UR  - https://doi.org/10.1007/s10875-017-0400-z
ER  -