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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...

Immune dysregulation can lead to autoimmunity and autoinflammation. The goal of treatment is to balance targeted therapies while avoiding infections or other side effects, which becomes complicated with multiple diagnose...

BackgroundSolid organ transplantation is an effective treatment for end-stage organ diseases, including renal, hepatic, cardiac, and pulmonary failure (1). Long-term graft survival depends on sustained immunosuppression;...

BackgroundGATA2 deficiency results from heterozygous pathogenic variants in the GATA2 gene, which encodes a zinc-finger transcription factor essential for hematopoietic stem and progenitor cell development. It is a highl...

The IKAROS family of zinc finger transcription factors (IKZF1–4) plays a central role in lymphocyte development and immune regulation. Pathogenic IKZF1 variants produce a wide phenotypic spectrum related to whether the...

IntroductionSystemic lupus erythematosus (SLE) in prepubertal children is rare and can indicate a monogenic cause. Although outcomes are variable, monogenic lupus is often difficult to treat with long-term complications ...