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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;...

BackgroundTranscription factor forkhead box protein N1 (FOXN1) is the master transcription factor required for differentiation and maintenance of thymic epithelial cells (TECs) and is not only required for embryonic thym...

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...

NCKAP1L encodes hematopoietic protein-1 (HEM1), a component of the WASp family verproline-homologous protein (WAVE) actin regulatory complex, activated downstream of multiple immune receptors. HEM1 deficiency disrupts WA...

IntroductionMacrophage activation syndrome (MAS) is a rare, potentially fatal hyperinflammatory complication of autoimmune disease, characterized by fever, cytopenias, hyperferritinemia, and multiorgan involvement (1). I...

BackgroundTelomere biology disorders (TBD) are rare multisystem disorders characterized by a wide array of clinical presentations, including bone marrow failure, pulmonary fibrosis, and malignancy predisposition due to p...

IntroductionChronic granulomatous disease (CGD) is an inborn error of immunity (IEI) secondary to defects in the phagocyte oxidative burst. Patients mainly experience infections; however, many may also manifest inflammat...

IntroductionParvovirus B19 viremia has been reported as a cause of recurrent anemia in solid organ transplant (SOT) recipients. Many pediatric reports of this occurrence have been described in kidney transplant recipient...

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...