Vasculitis and vasculopathy associated with inborn errors of immunity: an overview

Silvia Federici; Bianca Laura Cinicola; Francesco La Torre; Riccardo Castagnoli; Vassilios Lougaris; Giuliana Giardino; Stefano Volpi; Roberta Caorsi; Lucia Leonardi; Stefania Corrente; Annarosa Soresina; Caterina Cancrini; Antonella Insalaco; Marco Gattorno; Fabrizio De Benedetti; Gian Luigi Marseglia; Michele Miraglia Del Giudice; Fabio Cardinale

doi:10.3389/fped.2023.1258301

Vasculitis and vasculopathy associated with inborn errors of immunity: an overview

Front Pediatr. 2024 Jan 31:11:1258301. doi: 10.3389/fped.2023.1258301. eCollection 2023.

Authors

Silvia Federici^#¹, Bianca Laura Cinicola^#^{2

3}, Francesco La Torre^#⁴, Riccardo Castagnoli^{5

6}, Vassilios Lougaris⁷, Giuliana Giardino⁸, Stefano Volpi⁹, Roberta Caorsi⁹, Lucia Leonardi², Stefania Corrente¹⁰, Annarosa Soresina¹¹, Caterina Cancrini^{12

13}, Antonella Insalaco¹, Marco Gattorno², Fabrizio De Benedetti¹, Gian Luigi Marseglia^{5

6}, Michele Miraglia Del Giudice¹⁴, Fabio Cardinale⁴

Affiliations

¹ Division of Rheumatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
² Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
³ Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
⁴ Department of Pediatrics, Giovanni XXIII Pediatric Hospital, University of Bari, Bari, Italy.
⁵ Pediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy.
⁶ Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
⁷ Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, Italy.
⁸ Pediatric Section, Department of Translational Medical Sciences, Federico II University, Naples, Italy.
⁹ Center for Autoinflammatory Diseases and Immunodeficiency, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
¹⁰ Division of Pediatrics, S. Camillo-Forlanini Hospital, Rome, Italy.
¹¹ Unit of Pediatric Immunology, Pediatrics Clinic, University of Brescia, ASST-Spedali Civili Brescia, Brescia, Italy.
¹² Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
¹³ Academic Department of Pediatrics, Immune and Infectious Diseases Division, Research Unit of Primary Immunodeficiencies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
¹⁴ Department of Woman, Child and of General and Specialized Surgery, University of Campania 'Luigi Vanvitelli', Naples, Italy.

^# Contributed equally.

Abstract

Systemic autoinflammatory diseases (SAIDs) are disorders of innate immunity, which are characterized by unprovoked recurrent flares of systemic inflammation often characterized by fever associated with clinical manifestations mainly involving the musculoskeletal, mucocutaneous, gastrointestinal, and nervous systems. Several conditions also present with varied, sometimes prominent, involvement of the vascular system, with features of vasculitis characterized by variable target vessel involvement and organ damage. Here, we report a systematic review of vasculitis and vasculopathy associated with inborn errors of immunity.

Keywords: DADA2; SAVI; autoinflammatory diseases; haploinsufficiency A20; monogenic lupus; vasculopathy.

Publication types

Review