RESUMEN
Defining monogenic drivers of autoinflammatory syndromes elucidates mechanisms of disease in patients with these inborn errors of immunity and can facilitate targeted therapeutic interventions. Here, we describe a cohort of patients with a Behçet's- and inflammatory bowel disease (IBD)-like disorder termed "deficiency in ELF4, X-linked" (DEX) affecting males with loss-of-function variants in the ELF4 transcription factor gene located on the X chromosome. An international cohort of fourteen DEX patients was assessed to identify unifying clinical manifestations and diagnostic criteria as well as collate findings informing therapeutic responses. DEX patients exhibit a heterogeneous clinical phenotype including weight loss, oral and gastrointestinal aphthous ulcers, fevers, skin inflammation, gastrointestinal symptoms, arthritis, arthralgia, and myalgia, with findings of increased inflammatory markers, anemia, neutrophilic leukocytosis, thrombocytosis, intermittently low natural killer and class-switched memory B cells, and increased inflammatory cytokines in the serum. Patients have been predominantly treated with anti-inflammatory agents, with the majority of DEX patients treated with biologics targeting TNFα.
Asunto(s)
Artritis , Síndrome de Behçet , Productos Biológicos , Enfermedades Inflamatorias del Intestino , Masculino , Humanos , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/genética , Enfermedades Inflamatorias del Intestino/diagnóstico , Enfermedades Inflamatorias del Intestino/genética , Artralgia , Proteínas de Unión al ADN , Factores de Transcripción/genéticaAsunto(s)
Artritis Juvenil/diagnóstico , Enfermedad de Hirschsprung/complicaciones , Antirreumáticos/uso terapéutico , Artritis Juvenil/complicaciones , Artritis Juvenil/tratamiento farmacológico , Desarrollo Infantil , Diagnóstico Diferencial , Fiebre de Origen Desconocido/etiología , Humanos , Lactante , Proteína Antagonista del Receptor de Interleucina 1/uso terapéutico , Articulaciones/diagnóstico por imagen , Rodilla/diagnóstico por imagen , Ganglios Linfáticos/diagnóstico por imagen , Imagen por Resonancia Magnética , Masculino , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
A 13-year-old Black male patient with a history of Kikuchi-Fujimoto disease (KFD) and sickle cell trait presented with acute painless vision loss and no light perception vision (NLP) in his left eye. The examination was indicative of occlusive retinal vasculitis with near total central retinal artery occlusion (CRAO). He was started on oral steroids with dramatic reperfusion and improvement of the retinal hemorrhages. However, his vision remained at NLP. Oral steroids were tapered, and rituximab infusion was initiated. While ocular involvement is uncommon in KFD, vision-limiting complications, such as occlusive retinal vasculitis, ophthalmic artery occlusion, and CRAO can occur. Early systemic immunosuppression is key in achieving rapid remission. [Ophthalmic Surg Lasers Imaging Retina 2024;55:235-239.].