TLR7 F507S gain-of-function mutation presenting with early-onset SLE and hypertriglyceridemia: Response to JAK inhibition

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.

Authors

Parastoo Rostami (ORCID: https://orcid.org/0000-0001-9691-7558)
Nima Parvaneh (ORCID: https://orcid.org/0000-0002-3397-9716)
H Karami
Leila Shahbaznejad (ORCID: https://orcid.org/0000-0002-3224-6457)
Mohammad Shahrooei
Vahid Ziaee
Zahra Rezaei

Institutions

Shahed University (IR)
University of Shahrood (IR)
Children's Medical Center (IR)
Tehran University of Medical Sciences (IR)
Mazandaran University of Medical Sciences (IR)

Publication Details

Journal: Journal of Human Immunity
Published: 2025-12-19
DOI: https://doi.org/10.70962/jhi.20250196
Citations: 1
Primary Topic: Myeloproliferative Neoplasms: Diagnosis and Treatment
Type: article
Field-Weighted Citation Impact: 1.63

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article

TLR7 F507S gain-of-function mutation presenting with early-onset SLE and hypertriglyceridemia: Response to JAK inhibition

Parastoo Rostami, Nima Parvaneh, H Karami, Leila Shahbaznejad et al.

Dec 19, 2025

1 citations

Journal of Human Immunity

Myeloproliferative Neoplasms: Diagnosis and Treatment

1.63

article

TLR7 F507S gain-of-function mutation presenting with early-onset SLE and hypertriglyceridemia: Response to JAK inhibition

Parastoo Rostami, Nima Parvaneh, H Karami, Leila Shahbaznejad, Mohammad Shahrooei, Vahid Ziaee, Zahra Rezaei

December 19, 2025article en

1 citations

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.

Journal of Human ImmunityVol. 2(2)

Shahed University (IR), University of Shahrood (IR), Children's Medical Center (IR), Tehran University of Medical Sciences (IR), Mazandaran University of Medical Sciences (IR)

Good health and well-being

Openalex Percentile: Top 11%

Myeloproliferative Neoplasms: Diagnosis and Treatment

1.63

DOI Open Access PDF OpenAlex

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TLR7 F507S gain-of-function mutation presenting with early-onset SLE and hypertriglyceridemia: Response to JAK inhibition — Parastoo Rostami, Nima Parvaneh, et al. · Journal of Human Immunity (2025) | TGRS Research Map | TGRS