Rheumatological manifestations in inborn errors of immunity

Bal, Sevgi Köstel; Pázmándi, Júlia; Boztuğ, Kaan; Özen, Seza

doi:10.1038/s41390-019-0600-8

Cited by 4 publications

(3 citation statements)

References 87 publications

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“…We performed a literature review of IEIs based on the 2017 IUIS classification ( 16 ) to identify monogenic gene defects underlying autoimmunity and autoinflammation. We queried for autoimmune/autoinflammatory phenotypes using the IUIS classification, as well as our recent review of autoimmune and autoinflammatory manifestations in monogenic IEIs ( 83 ) and IBD ( 84 ). Only gene defects with evidence of causality were included.…”

Section: Methodsmentioning

confidence: 99%

AutoCore: A network-based definition of the core module of human autoimmunity and autoinflammation

Guthrie,

Köstel Bal,

Lombardo

et al. 2023

Sci. Adv.

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Although research on rare autoimmune and autoinflammatory diseases has enabled definition of nonredundant regulators of homeostasis in human immunity, because of the single gene-single disease nature of many of these diseases, contributing factors were mostly unveiled in sequential and noncoordinated individual studies. We used a network-based approach for integrating a set of 186 inborn errors of immunity with predominant autoimmunity/autoinflammation into a comprehensive map of human immune dysregulation, which we termed “AutoCore.” The AutoCore is located centrally within the interactome of all protein-protein interactions, connecting and pinpointing multidisease markers for a range of common, polygenic autoimmune/autoinflammatory diseases. The AutoCore can be subdivided into 19 endotypes that correspond to molecularly and phenotypically cohesive disease subgroups, providing a molecular mechanism–based disease classification and rationale toward systematic targeting for therapeutic purposes. Our study provides a proof of concept for using network-based methods to systematically investigate the molecular relationships between individual rare diseases and address a range of conceptual, diagnostic, and therapeutic challenges.

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Section: Methodsmentioning

confidence: 99%

AutoCore: A network-based definition of the core module of human autoimmunity and autoinflammation

Guthrie,

Köstel Bal,

Lombardo

et al. 2023

Sci. Adv.

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“…Inflammatory arthritis can be a non-specific manifestation of monogenic inflammasomopathies, interferonopathies, and disorders affecting the NFκB pathway (13). For example, Blau syndrome is characterized by tenosynovitis (Figure 3E), arthritis and uveitis (among other features) and thus is often mistaken for JIA (84).…”

Section: Mimics Of Classic Rheumatologic Diseasementioning

confidence: 99%

“…For example, Blau syndrome is characterized by tenosynovitis (Figure 3E), arthritis and uveitis (among other features) and thus is often mistaken for JIA (84). Monogenic Autoimmune Lymphoproliferative Syndrome (ALPS) and complex immune dysregulation diseases such as CTLA4 and LRBA haploinsufficiency may also cause inflammatory arthritis (13). Paradoxically, inflammatory arthritis can be seen in immune deficiency disorders such as chronic granulomatous disease (85).…”

Section: Mimics Of Classic Rheumatologic Diseasementioning

confidence: 99%

Autoinflammatory Diseases: A Review

An,

Marwaha,

Laxer

2024

J Rheumatol

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Autoinflammatory Diseases (AIDs) are a vast spectrum of disorders characterized by recurrent attacks of sterile inflammation. Since the first cloning of the Familial Mediterranean Fever gene in 1997, there has been a rapid rate of discovery of new AIDs. As of 2022, there have been 485 inborn errors of immunity documented by the International Union of Immunological Societies, for which many display aspects of autoinflammation. The pathophysiology of AIDs is complex. While many are caused by rare mutations in genes that govern innate immunity, others are polygenic where disease expression is thought to be triggered by environmental factors in genetically predisposed hosts.AIDs range in prevalence from common entities like gout, to ultra rare monogenic diseases. While AIDs were initially studied in pediatric populations, it is now apparent that they can present in adulthood and even in the elderly. AIDs can be clinically challenging given their rarity, as well as the heterogeneity in presentation and underlying etiology. While the care of AIDs can span medical disciplines, the rheumatologist often plays a central role given the inflammatory nature of these illnesses.In this review, we explore the current understanding of pathophysiology of these complex conditions and describe a classification system for AIDs. We place an emphasis on AIDs that present to the adult rheumatologist and discuss important AIDs that can mimic more classic rheumatologic diseases such as systemic lupus and inflammatory arthritis. Finally, we offer an approach to clinical assessment, diagnosis and management of AIDs.

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