SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies

Figure 2

Pedigrees of patients with autoimmune juvenile arthritis and novel SIAE mutations. (a) Pedigree of the family with the p.Q343P variant; (b) pedigree of the family with the p.Y495X variant; (c) pedigree of the family with the c.1320+33T>C variant. Patients with autoimmunity are depicted in dark grey (HT, Hashimoto’s thyroiditis; oJIA, oligoarticular JIA; pJIA, polyarticular JIA; and RA, rheumatoid arthritis). Patients suffering from other diseases are shown in light grey (AS, asthma; CC, colorectal carcinoma). All identified SIAE variants were in heterozygous state. The age of the individuals for whom genetic analysis was performed is also presented. Individual II-11: death by car accident; individuals II-12, −13, and −14: death during childhood.

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