Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4
AA de Jesus, A Brehm, R VanTries, P Pillet… - Journal of Allergy and …, 2019 - jacionline.org
PSMB8 and digenic with PSMB4 and PSMA3], 2, 3, E1-E3 PRAAS2 MIM# 618048 [POMP
haploinsufficiency], 3, 4 and PRAAS3 MIM# 617591 [recessive PSMB4 and digenic with
PSMB9]). 3 We report a patient with clinical features of CANDLE and an episode of
autoimmune hemolytic anemia (AIHA), who has 2 novel mutations in the proteasome
assembly gene PSMG2, identifying the earliest proteasome assembly chaperone PAC2 as
critical in human proteasome assembly and as a novel gene causing CANDLE, PRAAS4 …
haploinsufficiency], 3, 4 and PRAAS3 MIM# 617591 [recessive PSMB4 and digenic with
PSMB9]). 3 We report a patient with clinical features of CANDLE and an episode of
autoimmune hemolytic anemia (AIHA), who has 2 novel mutations in the proteasome
assembly gene PSMG2, identifying the earliest proteasome assembly chaperone PAC2 as
critical in human proteasome assembly and as a novel gene causing CANDLE, PRAAS4 …
