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Table 1 Clinical manifestations of 13 affected individuals in the FCL family

From: Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome

IDSexAgeAge of onset (year)Skin lesionsSystem involvemenetsMutation status
I-2FDeceased (Unknow reason)NA+NANA
II-2MDeceased (Vital myocarditis)NA+NANA
II-3F54Early childhood+NNA
II-4FDeceased (Suicide)NA+NANA
II-5M47Early childhood+N+
III-3F27Early childhood+Arthritis+
III-4F27Early childhood+NNA
III-5F25Early childhood+NNA
III-6F24Early childhood+Arthritis+
III-7F15Early childhood+N+
  1. (+) positive; N no, NA not available