case_images: PMC10188974_01
case_images: PMC10188974_02
case_images: Pedigree of the family.
case_images: fimmu-14-1156689-g001.jpg
case_images: PMC10188974_02_fimmu-14-1156689-g001.jpg
case_images: f1
case_images: The patient had an older brother (III:1) who previously died from multiorgan failure at 12 years of age ( Figure 1 ). The segregation analysis identified the heterozygous c.1358A>G variant in both the maternal grandparents, whereas the maternal uncle was found homozygous for the wild-type allele ( Figure 1 ).
case_images: Clinical expression, treatment, and outcome in family members carrying biallelic (red timelines) or monoallelic (purple timelines) pathogenic variants of ADA2. For each person, the period following the first presentation of disease is represented by a bold bar. het, heterozygous; hom, homozygous; CCS, corticosteroids; TNF, tumor necrosis factor; IGRT, immunoglobulin replacement therapy.
case_images: fimmu-14-1156689-g002.jpg
case_images: PMC10188974_02_fimmu-14-1156689-g002.jpg
case_images: f2