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| http://dx.doi.org/10.1016/j.jaad.2025.04.092 | DOI Listing |
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Monogenic lupus offers valuable insights into the underlying mechanisms and therapeutic approaches for systemic lupus erythematosus (SLE). Here we report on five patients with SLE carrying recessive mutations in phospholipase D family member 4 (PLD4). Deleterious variants in PLD4 resulted in impaired single-stranded nucleic acid exonuclease activity in in vitro and ex vivo assays.
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Pregnancies in patients with systemic lupus erythematosus (SLE) and those positive for anti-SSA/SSB or antiphospholipid antibodies carry a heightened risk of adverse pregnancy outcomes (APOs), including preeclampsia, preterm birth, and congenital heart block. Among available therapies, hydroxychloroquine (HCQ) plays a pivotal role due to its immunomodulatory and antithrombotic properties, which may help improve pregnancy outcomes. Emerging evidence supports HCQ's role in reducing SLE flares, as well as lowering the recurrence risk of congenital heart block in anti-SSA/SSB-positive pregnancies.
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