Progress and Challenges in the Use of Blood Biomarkers in Relapsing Polychondritis
Clin Exp Immunol. 2023 Feb 8:uxad014. doi: 10.1093/cei/uxad014. Online ahead of print.ABSTRACTRelapsing polychondritis (RP) is a rare inflammatory disease with significant individual heterogeneity that involves systemic organs. The diagnosis of RP mainly depends on the clinical manifestations; currently, there are no molecular biomarkers routinely evaluated in clinical practice. Biomarkers have diagnostic or monitoring values and can predict response to treatment or the disease course. Over the years, many biomarkers have been proposed to facilitate diagnosis and prognosis. Unfortunately, ideal biomarkers to diagnose RP ha...
Source: Clinical and Developmental Immunology - February 8, 2023 Category: Allergy & Immunology Authors: Yongmei Liu Xiaomeng Li Linlin Cheng Haoting Zhan Yuan Huang Haolong Li Yongzhe Li Source Type: research
Progress and Challenges in the Use of Blood Biomarkers in Relapsing Polychondritis
Clin Exp Immunol. 2023 Feb 8:uxad014. doi: 10.1093/cei/uxad014. Online ahead of print.ABSTRACTRelapsing polychondritis (RP) is a rare inflammatory disease with significant individual heterogeneity that involves systemic organs. The diagnosis of RP mainly depends on the clinical manifestations; currently, there are no molecular biomarkers routinely evaluated in clinical practice. Biomarkers have diagnostic or monitoring values and can predict response to treatment or the disease course. Over the years, many biomarkers have been proposed to facilitate diagnosis and prognosis. Unfortunately, ideal biomarkers to diagnose RP ha...
Source: Clinical and Developmental Immunology - February 8, 2023 Category: Allergy & Immunology Authors: Yongmei Liu Xiaomeng Li Linlin Cheng Haoting Zhan Yuan Huang Haolong Li Yongzhe Li Source Type: research
Macrocytic anemia and polychondritis: VEXAS syndrome
Z Rheumatol. 2023 Feb 3. doi: 10.1007/s00393-023-01318-5. Online ahead of print.ABSTRACTAn adult-onset autoinflammatory syndrome caused by somatic mutations in the UBA1 gene on the X chromosome was first reported in 2020. This VEXAS syndrome (acronym for vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) is characterized by an overlap of rheumatic inflammatory diseases with separate hematologic abnormalities. A substantial number of affected patients suffer from treatment refractory relapsing polychondritis and nearly always show signs of macrocytic anemia. This case report illustrates the diagnostic key points to...
Source: Zeitschrift fur Rheumatologie - February 3, 2023 Category: Rheumatology Authors: Markus Zeisbrich Viktoria Schindler M áté Krausz Michele Proietti Pavla Mrovecova Reinhard E Voll Cornelia Glaser Fabian R öther Klaus Warnatz Nils Venhoff Source Type: research
Macrocytic anemia and polychondritis: VEXAS syndrome
Z Rheumatol. 2023 Feb 3. doi: 10.1007/s00393-023-01318-5. Online ahead of print.ABSTRACTAn adult-onset autoinflammatory syndrome caused by somatic mutations in the UBA1 gene on the X chromosome was first reported in 2020. This VEXAS syndrome (acronym for vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) is characterized by an overlap of rheumatic inflammatory diseases with separate hematologic abnormalities. A substantial number of affected patients suffer from treatment refractory relapsing polychondritis and nearly always show signs of macrocytic anemia. This case report illustrates the diagnostic key points to...
Source: Zeitschrift fur Rheumatologie - February 3, 2023 Category: Rheumatology Authors: Markus Zeisbrich Viktoria Schindler M áté Krausz Michele Proietti Pavla Mrovecova Reinhard E Voll Cornelia Glaser Fabian R öther Klaus Warnatz Nils Venhoff Source Type: research
Macrocytic anemia and polychondritis: VEXAS syndrome
Z Rheumatol. 2023 Feb 3. doi: 10.1007/s00393-023-01318-5. Online ahead of print.ABSTRACTAn adult-onset autoinflammatory syndrome caused by somatic mutations in the UBA1 gene on the X chromosome was first reported in 2020. This VEXAS syndrome (acronym for vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) is characterized by an overlap of rheumatic inflammatory diseases with separate hematologic abnormalities. A substantial number of affected patients suffer from treatment refractory relapsing polychondritis and nearly always show signs of macrocytic anemia. This case report illustrates the diagnostic key points to...
Source: Zeitschrift fur Rheumatologie - February 3, 2023 Category: Rheumatology Authors: Markus Zeisbrich Viktoria Schindler M áté Krausz Michele Proietti Pavla Mrovecova Reinhard E Voll Cornelia Glaser Fabian R öther Klaus Warnatz Nils Venhoff Source Type: research
Macrocytic anemia and polychondritis: VEXAS syndrome
Z Rheumatol. 2023 Feb 3. doi: 10.1007/s00393-023-01318-5. Online ahead of print.ABSTRACTAn adult-onset autoinflammatory syndrome caused by somatic mutations in the UBA1 gene on the X chromosome was first reported in 2020. This VEXAS syndrome (acronym for vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) is characterized by an overlap of rheumatic inflammatory diseases with separate hematologic abnormalities. A substantial number of affected patients suffer from treatment refractory relapsing polychondritis and nearly always show signs of macrocytic anemia. This case report illustrates the diagnostic key points to...
Source: Zeitschrift fur Rheumatologie - February 3, 2023 Category: Rheumatology Authors: Markus Zeisbrich Viktoria Schindler M áté Krausz Michele Proietti Pavla Mrovecova Reinhard E Voll Cornelia Glaser Fabian R öther Klaus Warnatz Nils Venhoff Source Type: research
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases
AbstractVEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described pathological entity. It is an acquired monogenic autoinflammatory disease caused by somatic mutations of theUBA1 gene in blood cells precursors; the gene encodes one of the two E1 enzyme isoforms that initiates ubiquitylation in cell ’s cytoplasm. VEXAS syndrome leads to systemic inflammation, with all organs and tissues potentially involved. The clinical picture may be extremely heterogenous, mimicking different other systemic rheumatologic entities coexisting with haematological disorders, especially myelodysplasti...
Source: Internal and Emergency Medicine - January 20, 2023 Category: Emergency Medicine Source Type: research
Ocular Inflammation as the First Sign of Relapsing Polychondritis in Hispanic Patients: Report of Three Cases
CONCLUSION: This study extends the knowledge regarding ocular disease characteristics in patients with RP. Furthermore, it increases ophthalmologists' awareness of the findings, leading to earlier diagnoses and adequate treatment for improved patients' prognoses.PMID:36638347 | DOI:10.1080/09273948.2023.2165112 (Source: Ocular Immunology and Inflammation)
Source: Ocular Immunology and Inflammation - January 13, 2023 Category: Allergy & Immunology Authors: Jer ónimo Villa-Piñeros Mario Ramos-Santodomingo William Rojas-Carabali Alejandra de-la-Torre Source Type: research
