Tlr7 F507s Gain-Of-Function Mutation Presenting With Early-Onset Sle and Hypertriglyceridemia: Response to Jak Inhibition

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Tlr7 F507s Gain-Of-Function Mutation Presenting With Early-Onset Sle and Hypertriglyceridemia: Response to Jak Inhibition Publisher

Parvaneh N ; Karami H ; Shahbaznejad L ; Rezaei Z ; Rostami P ; Shahrooei M ; Ziaee V

Source: Journal of Human Immunity Published:2026

Abstract

We present a patient harboring the TLR7 F507S mutation who initially presented with refractory thrombocytopenia that evolved into SLE with subtle neurologic features, accompanied by hypertriglyceridemia. Both hematological and metabolic features responded to ruxolitinib, thereby expanding the phenotypic spectrum and therapeutic understanding of TLR7 GOF disease. © 2026 Parvaneh et al.

Style	Citing Format
MLA	Parvaneh N, et al.. "Tlr7 F507s Gain-Of-Function Mutation Presenting With Early-Onset Sle and Hypertriglyceridemia: Response to Jak Inhibition." Journal of Human Immunity, vol. 2, no. 2, 2026, pp. -.
APA	Parvaneh N, Karami H, Shahbaznejad L, Rezaei Z, Rostami P, Shahrooei M, Ziaee V (2026). Tlr7 F507s Gain-Of-Function Mutation Presenting With Early-Onset Sle and Hypertriglyceridemia: Response to Jak Inhibition. Journal of Human Immunity, 2(2), -.
Chicago	Parvaneh N, Karami H, Shahbaznejad L, Rezaei Z, Rostami P, Shahrooei M, Ziaee V. "Tlr7 F507s Gain-Of-Function Mutation Presenting With Early-Onset Sle and Hypertriglyceridemia: Response to Jak Inhibition." Journal of Human Immunity 2, no. 2 (2026): -.
Harvard	Parvaneh N et al. (2026) 'Tlr7 F507s Gain-Of-Function Mutation Presenting With Early-Onset Sle and Hypertriglyceridemia: Response to Jak Inhibition', Journal of Human Immunity, 2(2), pp. -.
Vancouver	Parvaneh N, Karami H, Shahbaznejad L, Rezaei Z, Rostami P, Shahrooei M, et al.. Tlr7 F507s Gain-Of-Function Mutation Presenting With Early-Onset Sle and Hypertriglyceridemia: Response to Jak Inhibition. Journal of Human Immunity. 2026;2(2):-.
BibTex	@article{ author = {Parvaneh N and Karami H and Shahbaznejad L and Rezaei Z and Rostami P and Shahrooei M and Ziaee V}, title = {Tlr7 F507s Gain-Of-Function Mutation Presenting With Early-Onset Sle and Hypertriglyceridemia: Response to Jak Inhibition}, journal = {Journal of Human Immunity}, volume = {2}, number = {2}, pages = {-}, year = {2026} }
RIS	TY - JOUR AU - Parvaneh N AU - Karami H AU - Shahbaznejad L AU - Rezaei Z AU - Rostami P AU - Shahrooei M AU - Ziaee V TI - Tlr7 F507s Gain-Of-Function Mutation Presenting With Early-Onset Sle and Hypertriglyceridemia: Response to Jak Inhibition JO - Journal of Human Immunity VL - 2 IS - 2 SP - EP - PY - 2026 ER -

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