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. Author manuscript; available in PMC: 2021 Nov 2.
Published in final edited form as: J Clin Immunol. 2020 Aug 27;40(8):1065–1081. doi: 10.1007/s10875-020-00847-x

Table 2.

Known LOF mutations that cause AR complete STAT1 deficiency.

Functional domains LOF mutations References
N-terminal domain (NTD) Q124H (Δexon 5) (16)
c.128+2 T>G (177)
Coiled coil domain (CCD) c.542-8 A>G (177)
SH2 domain (SH2D) c.1757_1758delAG (14)
L600P (14)
c.1928insA (15)