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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 4.

Known LOF mutations that cause AD STAT1 deficiency.

Functional domains LOF mutations References
Coiled coil domain (CCD) E157K (23)
G250A (26)
G250E (23)
DNA binding domain (DBD) E320Q (21)
Q463H (21)
SH2 domain (SH2D) K637E (22)
M654K (25)
K673R (22)
Tail segment domain (TSD) Y701C (24)
L706S (20)