Anifrolumab treatment of Singleton-Merten syndrome 2 due to a novel RIGI variant

Singleton-Merten syndrome kind 2 (SMS2) is an autosomal dominant, monogenic interferonopathy characterised by aortic calcification, skeletal abnormalities, and glaucoma. SMS2 is related to gain-of-function (GOF) variants in retinoic acid-inducible gene 1 (RIGI [previously known as DDX58]), an intracellular nucleic acid sensor that prompts manufacturing of kind I interferon on recognition of viral double-stranded RNA.1,2 Right here we characterize a novel RIGI variant in a younger affected person with SMS2 and describe our remedy expertise with anifrolumab, a mAb in opposition to the kind I interferon receptor.

Trending Merchandise

Added to wishlistRemoved from wishlist 0

Add to compare

Vimergy USDA Organic Cat’s Claw Extract, Trial Size – 30 Servings – Alcohol Free Cat’s Claw Tincture – Supports A Healthy Immune System – Gluten-Free, Non-GMO, Kosher, Vegan & Paleo Friendly (60 ml)

Added to wishlistRemoved from wishlist 0

Add to compare

$25.00

Added to wishlistRemoved from wishlist 0

Add to compare

ONNIT Alpha Brain Premium Nootropic Brain Supplement, 30 Count, for Men & Women – Caffeine-Free Focus Capsules for Concentration, Brain Booster& Memory Support – Cat’s Claw, Bacopa, Oat Straw

Added to wishlistRemoved from wishlist 0

Add to compare

$29.71

Added to wishlistRemoved from wishlist 0

Add to compare

Healthycell AC-11 Supplement – Supports Cell DNA Repair from Cat’s Claw – Anti Aging, Stem Cell Health, Immune Boost – 30 Capsules

Added to wishlistRemoved from wishlist 0

Add to compare

$32.99

Added to wishlistRemoved from wishlist 0

Add to compare

Cats Claw Tincture – Organic Cat’s Claw Herb Drops – Uncaria Tomentosa Bark Liquid Extract – Alcohol-Free – Vegan Supplement – 2 fl oz

Added to wishlistRemoved from wishlist 0

Add to compare

$13.99

Added to wishlistRemoved from wishlist 0

Add to compare

Cats Claw Tincture – Organic Cats Claw Herbal Supplement – Uncaria Tomentosa Bark Liquid Extract – Cat’s Claw Herb Drops – Vegan, Alcohol Free – 4 fl oz

Added to wishlistRemoved from wishlist 0

Add to compare

$17.99

Added to wishlistRemoved from wishlist 0

Add to compare

Cat’s Claw Tincture 2 Fl. Oz – Cat’s Claw Extract for Joint Support, Immune Support Supplement – Organic Cat’s Claw Liquid Drops Uncaria Tomentosa

Added to wishlistRemoved from wishlist 0

Add to compare

$7.85

Added to wishlistRemoved from wishlist 0

Add to compare

Swanson Full-Spectrum Cat’s Claw – Herbal Supplement Promoting Digestive Health & Immune System Support – Natural Formula Supporting Joint Health – (100 Capsules, 500mg Each)

Added to wishlistRemoved from wishlist 0

Add to compare

$8.83

Added to wishlistRemoved from wishlist 0

Add to compare

Pure Encapsulations Cat’s Claw | Supplement to Support Joints, Immune and Cardiovascular Systems, and Gastrointestinal Health* | 90 Capsules

Added to wishlistRemoved from wishlist 0

Add to compare

$45.40

Added to wishlistRemoved from wishlist 0

Add to compare

Cats Claw Herb Extract Tincture | 2 Fl Oz | Alcohol Free | Vegetarian, Non-GMO, Gluten Free Liquid | by Horbaach

Added to wishlistRemoved from wishlist 0

Add to compare

$9.99

Added to wishlistRemoved from wishlist 0

Add to compare

Carlyle Cat’s Claw Capsules 1000mg | 180 Count | Uncaria Tomentosa | Non-GMO, Gluten Free Supplement

Added to wishlistRemoved from wishlist 0

Add to compare

$15.28