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<p>Autoinflammatory diseases encompass a group of inherited disorders characterized by genetic defects in innate immunity and leading to uncontrolled systemic or organ-specific inflammation. While familial Mediterranean fever is a common example prevalent in Mediterranean regions, autoinflammatory phospholipase C gamma 2 (<i>PLCG2</i>)-associated antibody deficiency and immune dysregulation (APLAID) is extremely rare. We present a 36-year-old male patient with recurrent pustular eruptions who was on colchicine treatment for FMF. Genetic analysis revealed a heterozygous c.2120C &gt; A (Ser707Tyr) mutation in the <i>PLCG2</i> gene. Daily anakinra 100 mg therapy provided long-term control on skin eruptions. A case-based review following CaBArET guidelines was conducted using Medline/PubMed and Scopus databases and identified 30 cases of APLAID to review the clinical manifestations and treatment approaches of APLAID. No phenotype–genotype association has been established and treatment outcomes of APLAID patients are variable. Our case highlights reconsidering the diagnosis of a patient with persistent and atypical inflammatory manifestations even if he has a diagnosis of an autoinflammatory disorder. Although treatment responses to anakinra reported in the literature are scarce and highly variable, our observations demonstrated that anakinra seems to be a promising agent, especially for recurrent pustular eruptions of APLAID.<Table Float="No" ID="Taba"> <tgroup cols="2"> <colspec align="left" colname="c1" colnum="1" /> <colspec align="left" colname="c2" colnum="2" /> <tbody> <row> <entry align="left" nameend="c2" namest="c1"> <p><b>Key Points</b></p> <p>•<i> Skin is potentially the most demonstrative and available target of autoinflammatory disorders.</i></p> <p>• <i>Detailed history, examinations and subsequent WES analysis may provide the correct diagnosis of APLAID, even in a patient who has already an autoinflammatory disorder.</i></p> <p>• <i>Anakinra may be a promising agent for the treatment of skin eruptions in APLAID patients.</i></p> </entry> </row> </tbody> </tgroup> </Table></p>

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Overlap of familial Mediterranean fever and APLAID treated with anakinra: a case-based review

  • 期刊论文

  • 发表日期：

    2025年10月20日

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  • Gulsen Akoglu,
  • Ismail Yaz,
  • Saliha Esenboga,
  • Sedat Yilmaz,
  • Deniz Dogan Mulazimoglu,
  • Deniz Cagdas

摘要

Autoinflammatory diseases encompass a group of inherited disorders characterized by genetic defects in innate immunity and leading to uncontrolled systemic or organ-specific inflammation. While familial Mediterranean fever is a common example prevalent in Mediterranean regions, autoinflammatory phospholipase C gamma 2 (PLCG2)-associated antibody deficiency and immune dysregulation (APLAID) is extremely rare. We present a 36-year-old male patient with recurrent pustular eruptions who was on colchicine treatment for FMF. Genetic analysis revealed a heterozygous c.2120C > A (Ser707Tyr) mutation in the PLCG2 gene. Daily anakinra 100 mg therapy provided long-term control on skin eruptions. A case-based review following CaBArET guidelines was conducted using Medline/PubMed and Scopus databases and identified 30 cases of APLAID to review the clinical manifestations and treatment approaches of APLAID. No phenotype–genotype association has been established and treatment outcomes of APLAID patients are variable. Our case highlights reconsidering the diagnosis of a patient with persistent and atypical inflammatory manifestations even if he has a diagnosis of an autoinflammatory disorder. Although treatment responses to anakinra reported in the literature are scarce and highly variable, our observations demonstrated that anakinra seems to be a promising agent, especially for recurrent pustular eruptions of APLAID.

Key Points

• Skin is potentially the most demonstrative and available target of autoinflammatory disorders.

• Detailed history, examinations and subsequent WES analysis may provide the correct diagnosis of APLAID, even in a patient who has already an autoinflammatory disorder.

• Anakinra may be a promising agent for the treatment of skin eruptions in APLAID patients.