Periodic Fever Syndromes

How I Treat: Haploinsufficiency of A20.

Haploinsufficiency of A20 (HA20) is a primary immune regulation disease caused by heterozygous loss-of-function variants in TNFAIP3, resulting in unchecked inflammatory signaling. HA20 is a highly heterogeneous disorder with overlapping features of autoinflammation, autoimmunity, immunodeficiency, a…

Perinatal and early childhood determinants of disease persistence in PFAPA.

Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) is a common childhood autoinflammatory disease. This study investigated the influence of early-life factors on attack frequency and treatment resistance in children with PFAPA. Eighty-one children with PFAPA (diagnosed A…

VEXAS syndrome in adults: A narrative review of genomic pathogenesis, multisystem phenotypes, diagnostic algorithms, and emerging therapeutic strategies.

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently defined adult-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene. This narrative review synthesizes current insights into its epidemiology, pathogenesis, clinical spectrum, diagnostic st…

VEXAS syndrome: a comprehensive clinicopathologic and genetic analysis of a predominantly Indian cohort.

VEXAS syndrome is a recently recognized, acquired monogenic adult onset hemato-inflammatory syndrome characterized by somatic mutations within the UBA1 gene. The acronym VEXAS stands for vacuoles, E1 enzyme, X-linked inheritance, autoinflammatory tendencies, and somatic mutations. It presents as a s…

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Monoallelic variants in catalytic immunoproteasome subunits have recently been linked to proteasome-associated autoinflammatory syndromes with immunodeficiency (PRAAS-ID), yet their molecular mechanisms and clinical spectra are not fully defined. In this study, seven individuals from five unrelated…

Genetic Diagnosis and Identification of a Novel De Novo RELA Variant in Familial Behçet-like Autoinflammatory Syndrome Type 3: A Case Report.

To perform genetic diagnosis and pedigree analysis in a case of autosomal dominant Familial Behçet-like Autoinflammatory Syndrome type 3 (AIFBL3) caused by a novel RELA variant. Peripheral blood samples collected from the proband and parents underwent conventional genetic screening, next-genera…

A practical approach to preventing surgical cancellation in periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome: tonsillectomy between febrile episodes: our experience.

IRAK2 deficiency causes immune dysregulation through defective Myddosome assembly and enhanced interferon responses.

Interleukin-1 receptor-associated kinase 2 (IRAK2) is essential for the Myddosome complex formation downstream of Toll-like receptors. We identify twelve patients with a homozygous loss-of-function copy number variant in IRAK2, designated IRAK2-∆ex2. Most patients present with recurrent infec…