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Fig. 2 | Pediatric Rheumatology

Fig. 2

From: Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

Fig. 2

Genetic and molecular findings. a Pedigree of the family with ADA2 deficiency. Solid symbols indicate affected persons, open symbols unaffected relatives, squares male persons, circles female persons. The amino acid changes are indicated next to the symbols. b The upper panel shows electropherograms with the two heterozygous CECR1 mutations, c.139G>C (p.Gly47Arg) and c.1223G>A (p-Cys408Tyr), identified in both siblings. The lower panels show alignments of ADA2 protein sequences from different species. The positions of the altered amino acid residues Gly47 and Cys408 are marked by arrows. Highly conserved regions are marked in red and less conserved regions are indicated in blue. c, d Expression of interferon-stimulated genes, IFI27, IFI44, IFI44L, IFIT1, ISG15, RSAD2 and SIGLEC1 in peripheral blood. Shown is the fold-change of the respective mRNA relative to the mean expression of 10 healthy controls

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Pediatric Rheumatology

ISSN: 1546-0096