Skip to main content
. 2022 Jun 24;42(7):1473–1507. doi: 10.1007/s10875-022-01289-3

Table 10.

Phenocopies of inborn errors of immunity

graphic file with name 10875_2022_1289_Tab10_HTML.jpg

Total number of conditions for Table 10: 15 (7 due to somatic mutations; 8 due to autoAbs). New phenocopies: 3 (somatic variants in UBA1 [97], TLR8 [58]; autoAbs against type 1 IFNs [100104])

aHUS atypical hemolytic uremic syndrome, XL X-linked inheritance, AR autosomal recessive inheritance, AD autosomal dominant inheritance, LOF loss-of-function, GOF gain-of-function, PRCA pure red cell aplasia