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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

ID

Sex

Age

Age of onset (year)

Skin lesions

System involvemenets

Mutation status

I-2

F

Deceased (Unknow reason)

NA

+

NA

NA

II-2

M

Deceased (Vital myocarditis)

NA

+

NA

NA

II-3

F

54

Early childhood

+

N

NA

II-4

F

Deceased (Suicide)

NA

+

NA

NA

II-5

M

47

Early childhood

+

N

+

III-3

F

27

Early childhood

+

Arthritis

+

III-4

F

27

Early childhood

+

N

NA

III-5

F

25

Early childhood

+

N

NA

III-6

F

24

Early childhood

+

Arthritis

+

III-7

F

15

Early childhood

+

N

+

IV-1

M

3.8

0.5

+

Arthritis

+

IV-2

F

1.6

0.6

+

Arthritis

+

IV-4

M

3.9

0.6

+

N

NA

  1. (+) positive; N no, NA not available