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IntroductionActivated Phosphoinositide 3-Kinase Delta Syndrome (APDS) is a rare disease characterized by early-onset, progressive symptoms. Delayed diagnosis and inadequate treatment in childhood may exacerbate disease m...

RationaleActivated PI3K delta syndrome (APDS) is a rare primary immunodeficiency disease (PID) characterized in 2013. Caregivers of children with APDS juggle management of complex medical needs with family and work respo...

BackgroundX-linked hyper IgM syndrome (XHIGM) is a rare primary immunodeficiency (PID) caused by pathogenic variants in the CD40 ligand (CD40LG) gene, resulting in defective immunoglobulin class-switch recombination, cau...

RationaleCommon variable immunodeficiency (CVID) is a chronic, multisystem immune disorder associated with substantial symptom burden beyond infections, particularly among individuals with noninfectious inflammatory comp...

IntroductionNewborn screening (NBS) for severe combined immunodeficiency (SCID) leads to early diagnosis and hematopoietic cell transplant (HCT). Limited studies are available on the quality of life (QoL) of SCID patient...