Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature

Seminars in Arthritis and Rheumatism

Volumn 43, Issue 2, 2013, Pages 217-219

  Bader Meunier, Brigitte ^a,b,c   Cavé, Hélène ^b,d   Jeremiah, Nadia ^a,b,c   Magerus, Aude ^b,c   Lanzarotti, Nina ^b,c   Rieux Laucat, Frédéric ^b,c   Cormier Daire, Valérie ^b,c,e  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c Imagine fundation ^*  (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e PARIS DESCARTES SORBONNE PARIS CITÉ UNIVERSITY   (France)

Author keywords

Lupus; Noonan; RASopathies

Indexed keywords

ACETYLSALICYLIC ACID; ANTINUCLEAR ANTIBODY; DNA ANTIBODY; HYDROXYCHLOROQUINE; K RAS PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2;

ARTICLE; AUTOIMMUNE DISEASE; CLINICAL FEATURE; CYTOPENIA; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC PREDISPOSITION; HUMAN; LOOSE ANAGEN HAIR SYNDROME; MONOGENIC DISORDER; MUTATIONAL ANALYSIS; NOONAN SYNDROME; ONCOGENE K RAS; ONSET AGE; PERICARDITIS; POLYARTHRITIS; PRIORITY JOURNAL; PTPN11 GENE; RARE DISEASE; RASOPATHY; SEX RATIO; SHOC2 GENE; SKIN MANIFESTATION; SYSTEMATIC REVIEW; SYSTEMIC LUPUS ERYTHEMATOSUS;

LUPUS; NOONAN; RASOPATHIES;

ADOLESCENT; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MUTATION; NOONAN SYNDROME;

EID: 84886085781     PISSN: 00490172     EISSN: 1532866X     Source Type: Journal    
DOI: 10.1016/j.semarthrit.2013.04.009     Document Type: Article

References (21)

1. Crow Y.J. Lupus: how much "complexity" is really (just) genetic heterogeneity?. Arthritis Rheum 2011, 63(12):3661-3664.
2. Quaio C.R., Carvalho J.F., da Silva C.A., Bueno C., Brasil A.S., Pereira A.C., et al. Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. Am J Med Genet A 2012, 158A(5):1077-1082.
3. Leventopoulos G., Denayer E., Makrythanasis P., Papapolychroniou C., Fryssira H. Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation. Clin Exp Rheumatol 2010, 28(4):556-557.
4. Lisbona M.P., Moreno M., Orellana C., Gratacos J., Larrosa M. Noonan syndrome associated with systemic lupus erythematosus. Lupus 2009, 18(3):267-269.
5. Lopez-Rangel E., Malleson P.N., Lirenman D.S., Roa B., Wiszniewska J., Lewis MES. Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome. Am J Med Genet A 2005, 139(3):239-242.
6. Alanay Y., Balci S., Ozen S. Noonan syndrome and systemic lupus erythematosus: presentation in childhood. Clin Dysmorphol 2004, 13(3):161-163.
7. Amoroso A., Garzia P., Vadacca M., et al. The unusual association of three autoimmune diseases in a patient with Noonan syndrome. J Adolesc Health 2003, 32(1):94-97.
8. Martin D.M., Gencyuz C.F., Petty E.M. Systemic lupus erythematosus in a man with Noonan syndrome. Am J Med Genet 2001, 102(1):59-62.
9. Tartaglia M., Gelb B.D., Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab 2011, 25(1):161-179.
10. Tsokos G.C. Systemic lupus erythematosus. New Engl J Med 2011, 365:2110-2121.
11. Rice G., Patrick T., Parmar R., et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007, 81:713-725.
12. Rice G.I., Kasher P.R., Forte G.M., Mannion N.M., Greenwood S.M., Szynkiewicz M., et al. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet 2012, 44(11):1243-1248.
13. Briggs T.A., Rice G.I., Daly S., et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet 2011, 43:127-131.
14. Lausch E., Janecke A., Bros M., Trojandt S., Alanay Y., De Laet C., et al. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet 2011, 43:132-137.
15. Dragon-Durey M.A., Fremeaux-Bacchi V. Complement component deficiencies in human disease. Presse Med 2006, 35(5, Pt 2):861-870.
16. Al-Mayouf S.M., Sunker A., Abdwani R., et al. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet 2011, 23(43):1186-1188.
17. Manzi S., Urbach A.H., McCune A.B., Altman H.A., Kaplan S.S., Medsger T.A., et al. Systemic lupus erythematosus in a boy with chronic granulomatous disease: case report and review of the literature. Arthritis Rheum 1991, 34:101-105.
18. Ramantani G., Kohlhase J., Hertzberg C., Innes A.M., Engel K., Hunger S., et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum 2010, 62:1469-1477.
19. Niemela J.E., Lu L., Fleisher T.A., et al. Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. Blood 2011, 117(10):2883-2886.
20. Takagi M., Shinoda K., Piao J. Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. Blood 2011, 117:2887-2890.
21. O'Neill S., Cervera R. Systemic lupus erythematosus. Best Pract Res Clin Rheumatol 2010, 24(6):841-855.