PMC10188974_01
PMC10188974_02
Pedigree of the family.
fimmu-14-1156689-g001.jpg
PMC10188974_02_fimmu-14-1156689-g001.jpg
f1
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 ).
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.
fimmu-14-1156689-g002.jpg
PMC10188974_02_fimmu-14-1156689-g002.jpg
f2