Details

Autor(en) / Beteiligte

• Seo, Jieun, BS
• Kang, Jung-Ah, MS
• Suh, Dong In, MD
• Park, Eun-Byeol, BS
• Lee, Cho-Rong, MS
• Choi, Sun Ah, MD
• Kim, Soo Yeon, MD
• Kim, Yeji, BS
• Park, Sang-Heon, MS
• Ye, Michael, PhD
• Kwon, Soon-Hak, MD
• Park, June Dong, MD, PhD
• Lim, Byung Chan, MD
• Lee, Dong Hun, MD, PhD
• Kang, Suk-Jo, PhD
• Choi, Murim, PhD
• Park, Sung-Gyoo, PhD
• Chae, Jong-Hee, MD, PhD

Titel

Tofacitinib relieves symptoms of stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173

Ist Teil von

• Journal of allergy and clinical immunology, 2017-04, Vol.139 (4), p.1396-1399.e12

Ort / Verlag

United States: Elsevier Limited

Erscheinungsjahr

2017

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• [...]the patient experienced sudden left leg weakness and headache. [...]at a baseline level, the mutant STING proteins barely displayed any IFN-β promoter activity, whereas the V147L mutation showed increased activity even without cGAMP (Fig 2, B and C). Patient ID Liu et al, 2014E7 Jeremiah et al, 2014E8 Munoz et al, 2015E9 Chia et al, 2016E10 Current study N1 N2 N3 N4 N5 N6 J1 J2 J3 J4 A1 - - Inheritance pattern Unrelated Familial - - - Sex (M/F) M F M F F M M M M F M M M Variant origin De novo NA Inherited De novo - De novo (two) Variant c.439G>C, p.Val147Leu c.461A>G, p.Asn154Ser c.463G>A, p.Val155Met c.463G>A, p.Val155Met c.439G>C, p.Val147Leu c.461A>G, p.Asn154Ser c.304T>C, p.Ser102Pro & c.835T>C, p.Phe279Leu Age of onset Infancy (8 wk) Adulthood Teenager Teenager Infancy Infancy Infancy Childhood (3 years) Status at last follow-up Alive Alive Alive Alive Dead Dead Alive Dead Alive Alive Alive Alive Alive Rash or Tachypnea + + + + + + − + + + + + + Gangrene of finger/toe 4/6 NA + + + Lung disease 5/6 − + + + + + + CNS vessel involvement Not reported Not reported Not reported Not reported + Table E4Primers used in this study Primer name Primer sequences Primer name Primer sequences TMEM173_S102P_F 5′-AGGAGGATGTTCAGTGCCTG-3′ TMEM173_S102P_R 5′-GGGTATCCAACGTGTGTCAC-3′ TMEM173_F279L_F 5′-ATCAACCCCTCACCCTACCA-3′ TMEM173_F279L_R 5′-GTTACAGGCTGAGGGAGTGG-3′ MYO18A_A1729V_F 5′-CTGTCTAGGGTGAAGGGAGC-3′ MYO18A_A1729V_R 5′-TCTTTCCTGTACAGCCCTCC-3′ BBS1_R196W_F 5′-AGAATGATGGAGGAGGGCAG-3′ BBS1_R196W_R 5′-TGGAAGTCACTGCAGCTTTA-3′ MMP13_I165N_F 5′-CCAGGAGTACTTAGCACAGGT-3′ MMP13_I165N_R 5′-GCCTTCAAAGTTTGGTCCGA-3′ BRWD3_G1286Q_F 5′-TTCTCCAGACTCTGCCTGTG-3′ BRWD3_G1286Q_F 5′-TTGTTCTACTTGCTGCTCCA-3′ IFN-β_qPCR_F 5′-AAACTCATGAGCAGTCTGCA-3′ IFN-β_qPCR_R 5′-AGGAGATCTTCAGTTTCGGAGG-3′ References 1 G.N. Barber, STING: infection, inflammation...