Brief report: IFIH1 mutation causes systemic lupus erythematosus with selective IgA deficiency

Arthritis and Rheumatology

Volumn 67, Issue 6, 2015, Pages 1592-1597

  Van Eyck, Lien ^a,b   De Somer, Lien ^c   Pombal, Diana ^a,b   Bornschein, Simon ^a,b   Frans, Glynis ^b   Humblet Baron, Stéphanie ^a,b   Moens, Leen ^b   De Zegher, Francis ^b,c   Bossuyt, Xavier ^b   Wouters, Carine ^b,c   Liston, Adrian ^a,b  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; DEAD BOX PROTEIN; IFIH1 PROTEIN, HUMAN;

ADOLESCENT; AICARDI GOUTIERES SYNDROME; ANTIPHOSPHOLIPID SYNDROME; ARTHRITIS; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CLINICAL FEATURE; COMPLEMENT ACTIVATION; DEEP VEIN THROMBOSIS; DISEASE ACTIVITY; EXOME; FEMALE; FLOW CYTOMETRY; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOGLOBULIN A DEFICIENCY; IMMUNOSUPPRESSIVE TREATMENT; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; RASH; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPASTICITY; SYSTEMIC LUPUS ERYTHEMATOSUS; UPREGULATION; VASCULITIS; COMPLICATION; DNA SEQUENCE; GENETICS;

ADOLESCENT; DEAD-BOX RNA HELICASES; FEMALE; HUMANS; IGA DEFICIENCY; LUPUS ERYTHEMATOSUS, SYSTEMIC; SEQUENCE ANALYSIS, DNA;

EID: 84929920092     PISSN: 23265191     EISSN: 23265205     Source Type: Journal    
DOI: 10.1002/art.39110     Document Type: Article

References (16)

1. Goubau D, Deddouche S, Reis e Sousa C., Cytosolic sensing of viruses. Immunity 2013; 38: 855-69.
2. Rice GI, del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, et al., Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet 2014; 46: 503-9.
3. La Piana R, Uggetti C, Olivieri I, Tonduti D, Balottin U, Fazzi E, et al., Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6). Am J Med Genet A 2014; 164A: 815-9.
4. Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, et al., Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics 2014; 45: 386-93.
5. Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, et al., Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci U S A 2003; 100: 2610-5.
6. Costa-Reis P, Sullivan KE., Genetics and epigenetics of systemic lupus erythematosus. Curr Rheumatol Rep 2013; 15: 369.
7. Cunninghame Graham DS, Morris DL, Bhangale TR, Criswell LA, Syvanen AC, Ronnblom L, et al., Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus. PLoS Genet 2011; 7: e1002341.
8. Liu S, Wang H, Jin Y, Podolsky R, Reddy MV, Pedersen J, et al., IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells. Hum Mol Genet 2009; 18: 358-65.
9. Ferreira RC, Pan-Hammarstrom Q, Graham RR, Gateva V, Fontan G, Lee AT, et al., Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. Nat Genet 2010; 42: 777-80.
10. -ΔΔCt method. Methods 2001; 25: 402-8.
11. Jacob CM, Pastorino AC, Fahl K, Carneiro-Sampaio M, Monteiro RC., Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. J Clin Immunol 2008; Suppl 1: S56-61.
12. high plasma cells and disease activity in patients with systemic lupus erythematosus. Arthritis Rheum 2003; 48: 1332-42.
13. Seifert M, Kuppers R., Molecular footprints of a germinal center derivation of human IgM+IgD+CD27+ B cells and the dynamics of memory B cell generation. J Exp Med 2009; 206: 2659-69.
14. Weller S, Braun MC, Tan BK, Rosenwald A, Cordier C, Conley ME, et al., Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire. Blood 2004; 104: 3647-54.
15. Bonelli M, Savitskaya A, Steiner CW, Rath E, Smolen JS, Scheinecker C., Phenotypic and functional analysis of CD4+ CD25-Foxp3+ T cells in patients with systemic lupus erythematosus. J Immunol 2009; 182: 1689-95.
16. Simpson N, Gatenby PA, Wilson A, Malik S, Fulcher DA, Tangye SG, et al., Expansion of circulating T cells resembling follicular helper T cells is a fixed phenotype that identifies a subset of severe systemic lupus erythematosus. Arthritis Rheum 2010; 62: 234-44.