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Zinc is a key micronutrient of the skin, where it is responsible, among others, for regulating the processes of melanocyte proliferation, maturation, and differentiation. Recent research has revealed a possible link betw...

C1q deficiency is an inheritable immune disorder attributed to biallelic pathogenic mutations in C1q genes (C1QA, C1QB, or C1QC). Patients with C1q deficiency demonstrate increased susceptibility to severe infections and...

The interplay between thyroid hormone action and the immune system has been established in physiological and pathological settings. However, their connection is complex and still not completely understood. The thyroid ho...

Primary Immunodeficiencies (PI) include more than 550 monogenic disorders presenting with recurrent infections, autoimmunity, and significant morbidity. Early molecular diagnosis is essential for guiding targeted treatme...

BackgroundRegulator of telomere elongation helicase 1 (RTEL1) is a gene that encodes a DNA helicase crucial for DNA repair and telomere maintenance. It belongs to a family of genes associated with telomere biology disord...

IntroductionBACH2-related immunodeficiency and autoimmunity (BRIDA) increases the risk of developing B cell lymphoma. We present a case of a patient with a known history of common variable immunodeficiency (CVID) and BAC...

BackgroundCOPA syndrome is a rare autosomal-dominant immune dysregulation disorder caused by pathogenic variants in the COPA gene, typically presenting with autoimmunity, arthritis, and interstitial lung disease. However...

Autoimmune encephalitis are one of the emergent causes of subacute changes in the level of consciousness, behavior, cognitive impairment and seizures, mainly in young people. They are a consequence of inflammation or dys...