An update on autoinflammatory diseases

First author: S. Georgin-Lavialle

Abstract:

Autoinflammatory diseases (AIDs) are defined as disorders of innate immunity. They were initially defined in opposition to autoimmune diseases, due to the absence of involvement of the adaptive immune system and circulating autoantibodies. The 4 IADs first described are known as the “historic” IADs and include: familial Mediterranean fever (associated with mutations in the MEFV gene), cryopyrinopathies (associated with mutations in NLRP3), tumor necrosis factor receptor-associated periodic syndrome (associated with mutations in TNFRSF1A) and mevalonate kinase deficiency (associated with mutations in MVK). Over the past 10 years, more than 50 new monogenic IBDs have been discovered thanks to advances in genetics. Diagnosis is facilitated by personal and family history-taking and detailed analysis of the signs and symptoms associated with febrile attacks, which must be associated with the presence of elevated blood biomarkers of inflammation. Increasingly powerful genetic analysis techniques can help refine the diagnosis. This chapter describes the main types of IJD, and helps to guide the clinician in the suspicion and diagnosis of IJD.

MAi en français

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Break down the barriers of auto-inflammation:How to deal with a monogenic auto-inflammatorydisease and immuno-haematological features in 2022?

First author : Hélène Vergneault

Review: Immunology

Link to article: DOI: 10.1111/imm.13579

Principales caractéristiques immuno-hématologiques en fonction du principal mécanisme physiopathologique impliqué.

Abstract:

In the past few years, the spectrum of monogenic systemic auto-inflammatory diseases (MSAID) has widely expanded beyond the typical recurrent fever. Immunohaematological features, as cytopenias, hypogammaglobulinemia, hypereosinophilia,lymphoproliferation and immunodeficiency, have been described in association of several MSAID. The objective of this review was to describe these particular MSAID. MSAID must be suspected in front of immuno-haematological features associated with non-infectious recurrent fever, chronic systemic inflammation, inflammatory cutaneous manifestations, arthritis or inflammatory bowel disease. Genes and cellular mechanisms involved are various but some of them are of special interest. Defects in actine regulation pathway are notably associated with cytopenia and immune deficiency. Because of their frequency, ADA2 deficiency and Vacuoles, E1-Enzyme, X-linked, auto-inflammatory, Somatic (VEXAS) syndrome deserve to be noticed. ADA2 deficiency results in polyarteritis nodosalike presentation with a wide panel of manifestations including cytopenia(s), lymphoproliferation and immune deficiency. Neutrophilic dermatosis or chondritis associated with macrocytic anaemia or myelodysplasia should lead to screen for VEXAS. Of note, most of MSAID are associated with inflammatory anaemia. We proposed here a clinical and pragmatic approach of MSAID associated with immuno-haematological features.

Vergneault - Break down the barriers of auto‐inflammation How to deal with a monogenic AI

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Provisional diagnostic criteria for systemic inflammatory trunkrecurrent acute macular eruption diagnosis

First author: Angèle Soria

Link to article: https://pubmed.ncbi.nlm.nih.gov/36426626/

We have identified a previously unclassified entity among systemic autoinflammatory diseases, which we named the SITRAME syndrome, short for "Systemic Inflammatory Trunk Recurrent Acute Macular Eruption." We report 16 adult patients who presented with recurrent, non-pruritic macular eruptions on the trunk and systemic inflammation. The median age at diagnosis was 55 years, affecting both men and women equally. All patients had elevated C-reactive protein (CRP), and 56% experienced fever during flare-ups. The disease typically began around age 35. During recurrences, the skin lesions were consistent in each patient, with a median duration of 3 days. Seven out of 16 patients reported more than 20 episodes over several decades, without worsening symptoms over time. Skin biopsies performed during flare-ups in 8 patients were uninformative, showing nonspecific results. No biological abnormalities were noted, except for elevated CRP during flare-ups. Genetic exploration using next-generation sequencing in 10 of the 16 patients did not identify any specific mutations in known autoinflammatory disease genes as of 2022. Continuous colchicine treatment was effective in 6 patients, reducing the number and duration of flare-ups.

Following this publication, we aim to gather patients internationally and attempt to determine the cause and treatment of this syndrome. You can contact us for advice at angele.soria@aphp.fr or sophie.georgin-lavialle@aphp.fr, or make an appointment through our website via our secretariat. Dedicated appointment slots are available for this syndrome.

Provisional diagnostic criteria for systemic inflammatory trunk recurrent acute

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