Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features.
Background: Monogenic autoinflammatory diseases (AID) are caused by mutations in innate immune genes. The effects of these mutations on allergic inflammation are unknown.Objectives: We investigated allergic, immunological and clinical phenotypes in FMF (familial Mediterranean fever), CAPS (cryopyrin...
| Publicado en: | Annals of the Rheumatic Diseases Vol. 80; no. 6; pp. 788 - 796 |
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| Autores principales: | , , , , , , , , , , , , , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Elsevier B.V.
Jun2021
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=150353244&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 150353244 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00034967 ANR jtl: Annals of the Rheumatic Diseases issn: 00034967 maglogo: N pubinfo: dt: Jun2021 vid: 80 iid: 6 pid: 467 pub: Elsevier B.V. place: New York, New York artinfo: ui: 150353244 150353244 NLM33619160 150353244 10.1136/annrheumdis-2020-219137 NLM33619160 150353244 ppf: 788 ppct: 8 formats: tig: atl: Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features. aug: au: Schwartz, Daniella Muallem Kitakule, Moses M. Dizon, Brian L. P. Gutierrez-Huerta, Cristhian Blackstone, Sarah A. Burma, Aarohan M. Son, Aran Deuitch, Natalie Rosenzweig, Sofia Komarow, Hirsh Stone, Deborah L. Jones, Anne Nehrebecky, Michele Hoffmann, Patrycja Romeo, Tina Almeida de Jesus, Adriana Alehashemi, Sara Garg, Megha Torreggiani, Sofia Sanchez, Gina A. Montealegre affil: Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA sug: subj: Hereditary Autoinflammatory Diseases Diagnosis Hypersensitivity Cryopyrin-Associated Periodic Syndromes Skin Diseases Autoimmune Diseases Intercellular Signaling Peptides and Proteins Therapeutic Use Leukocytes, Mononuclear Cross Sectional Studies Hydrolases Funding Source Human ab: Background: Monogenic autoinflammatory diseases (AID) are caused by mutations in innate immune genes. The effects of these mutations on allergic inflammation are unknown.Objectives: We investigated allergic, immunological and clinical phenotypes in FMF (familial Mediterranean fever), CAPS (cryopyrin-associated periodic syndrome), TRAPS (tumour necrosis factor receptor-associated periodic syndrome), HIDS (hyper-IgD syndrome), PAPA (pyogenic arthritis, pyoderma gangrenosum and acne), DADA2 (deficiency of adenosine deaminase 2), HA20 (haploinsufficiency of A20), CANDLE (chronic atypical neutrophilic dermatosis, lipodystrophy, elevated temperature) and SAVI (STING-associated vasculopathy of infancy).Methods: In this cross-sectional study, clinical data were assessed in 425 patients with AID using questionnaires and chart reviews. Comparator data were obtained from public databases. Peripheral blood mononuclear cells obtained from 55 patients were stimulated and CD4+ cytokine production assessed.Results: Clinical laboratory features of Type 2 immunity were elevated in CAPS but reduced in most AID, particularly DADA2. Physician-diagnosed allergic diseases were prevalent in multiple AID, including CAPS and DADA2. T helper 2 (Th2) cells were expanded in CAPS, TRAPS and HIDS; Th9 cells were expanded in HA20.Conclusions: CAPS is characterised by an enhanced Type 2 signature, whereas FMF and CANDLE are associated with reduced Type 2 responses. DADA2 is associated with reduced Type 2 responses but a high rate of physician-diagnosed allergy. Therefore, NLRP3-driven autoinflammation may promote Type 2 immunity, whereas AID like DADA2 may manifest clinical phenotypes that masquerade as allergic disorders. Further investigations are needed to determine the contribution of autoinflammation to allergic clinical and immunological phenotypes, to improve the treatment of patients with AID. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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