000 01592 a2200469 4500
005 20250517160241.0
264 0 _c20180326
008 201803s 0 0 eng d
022 _a1573-2592
024 7 _a10.1007/s10875-017-0400-z
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aBoisson, Bertrand
245 0 0 _aHuman IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
_h[electronic resource]
260 _bJournal of clinical immunology
_cJul 2017
300 _a397-412 p.
_bdigital
500 _aPublication Type: Journal Article; Review
650 0 4 _aAlleles
650 0 4 _aAnimals
650 0 4 _aEnzyme Activation
650 0 4 _aGain of Function Mutation
650 0 4 _aGene Expression Regulation
650 0 4 _aGenetic Association Studies
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aGerm-Line Mutation
650 0 4 _aHematopoietic Stem Cell Transplantation
650 0 4 _aHeterozygote
650 0 4 _aHumans
650 0 4 _aImmunity
_xgenetics
650 0 4 _aImmunologic Deficiency Syndromes
_xdiagnosis
650 0 4 _aNF-KappaB Inhibitor alpha
_xgenetics
650 0 4 _aOrgan Specificity
_xgenetics
650 0 4 _aPhenotype
650 0 4 _aPhosphorylation
650 0 4 _aProteolysis
650 0 4 _aSeverity of Illness Index
650 0 4 _aTreatment Outcome
700 1 _aPuel, Anne
700 1 _aPicard, Capucine
700 1 _aCasanova, Jean-Laurent
773 0 _tJournal of clinical immunology
_gvol. 37
_gno. 5
_gp. 397-412
856 4 0 _uhttps://doi.org/10.1007/s10875-017-0400-z
_zAvailable from publisher's website
999 _c27260917
_d27260917