000 01548 a2200409 4500
005 20250518020605.0
264 0 _c20200615
008 202006s 0 0 eng d
022 _a1097-6825
024 7 _a10.1016/j.jaci.2018.12.1012
_2doi
040 _aNLM
_beng
_cNLM
100 1 _ade Jesus, Adriana A
245 0 0 _aNovel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.
_h[electronic resource]
260 _bThe Journal of allergy and clinical immunology
_c05 2019
300 _a1939-1943.e8 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
650 0 4 _aChaperonins
_xgenetics
650 0 4 _aChild
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aImmunologic Deficiency Syndromes
_xgenetics
650 0 4 _aInterferons
650 0 4 _aMolecular Chaperones
_xgenetics
650 0 4 _aMutation
650 0 4 _aProteasome Endopeptidase Complex
_xgenetics
700 1 _aBrehm, Anja
700 1 _aVanTries, Rachel
700 1 _aPillet, Pascal
700 1 _aParentelli, Anne-Sophie
700 1 _aMontealegre Sanchez, Gina A
700 1 _aDeng, Zuoming
700 1 _aPaut, Isabelle Koné
700 1 _aGoldbach-Mansky, Raphaela
700 1 _aKrüger, Elke
773 0 _tThe Journal of allergy and clinical immunology
_gvol. 143
_gno. 5
_gp. 1939-1943.e8
856 4 0 _uhttps://doi.org/10.1016/j.jaci.2018.12.1012
_zAvailable from publisher's website
999 _c29275552
_d29275552