Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 5, 2012, Pages 1077-1082

  Quaio, Caio R D C ^a   Carvalho, Jozélio F ^a   da Silva, Clovis A ^a   Bueno, Cleonice ^a   Brasil, Amanda S ^a   Pereira, Alexandre C ^a   Jorge, Alexander A L ^a   Malaquias, Alexsandra C ^a   Kim, Chong A ^a   Bertola, Débora R ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Autoantibodies; Autoimmunity; Noonan syndrome; RAS MAPK; RASopathy

Indexed keywords

ANTINUCLEAR ANTIBODY; AUTOANTIBODY; C REACTIVE PROTEIN; CARDIOLIPIN ANTIBODY; DOUBLE STRANDED DNA ANTIBODY; ENDOMYSIUM ANTIBODY; IMMUNOGLOBULIN G ANTIBODY; IMMUNOGLOBULIN M ANTIBODY; JO 1 ANTIBODY; LA ANTIBODY; LIVER CYTOSOLIC PROTEIN TYPE 1 ANTIBODY; LIVER KIDNEY MICROSOME TYPE 1 ANTIBODY; LUPUS ANTICOAGULANT; MITOCHONDRION ANTIBODY; PARIETAL CELL ANTIBODY; RIBONUCLEOPROTEIN ANTIBODY; RIBOSOMAL P ANTIBODY; RO ANTIBODY; SCL 70 ANTIBODY; SMOOTH MUSCLE ANTIBODY; THYROID ANTIBODY; THYROTROPIN; UNCLASSIFIED DRUG;

ADULT; ANTIPHOSPHOLIPID SYNDROME; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNE HEPATITIS; AUTOIMMUNE POLYENDOCRINOPATHY; AUTOIMMUNE THYROIDITIS; BRAF GENE; CARDIOFACIOCUTANEOUS SYNDROME; CELIAC DISEASE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; ERYTHROCYTE SEDIMENTATION RATE; FEMALE; GENE; GENE MUTATION; GLUTEN FREE DIET; HUMAN; HUMAN CELL; INCIDENCE; MALE; NOONAN SYNDROME; NOONAN SYNDROME WITH LOOSE ANAGEN HAIR; NOONAN SYNDROME WITH MULTIPLE LENTIGINE; ONCOGENE K RAS; ONCOGENE RAS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; PTPN11 GENE; SCHOOL CHILD; SHOC2 GENE; SOS1 GENE; SYSTEMIC LUPUS ERYTHEMATOSUS; VITILIGO;

AUTOANTIBODIES; AUTOIMMUNE DISEASES; HUMANS; NOONAN SYNDROME;

EID: 84859975852     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35290     Document Type: Article

References (36)

1. Aikawa NE, Jesus AA, Liphaus BL, Silva CA, Carneiro-Sampaio M, Viana VST, Sallum AME. 2012. Organ-specific autoantibodies and autoimmune diseases in juvenile systemic lupus erythematosus and juvenile dermatomyositis patients. Clin Exp Rheumatol. In press.
2. Alanay Y, Balc S, Ozen S. 2004. Noonan syndrome and systemic lupus erythematosus: Presentation in childhood. Clin Dysmorphol 13: 161-163.
3. Alvarez F, Berg PA, Bianchi FB, Burroughs AK, Cancado EL, Chapman RW, Cooksley WGE, Czaja AJ, Desmet VJ, Donaldson PT, Eddleston ALWF, Fainboim L, Heathcote J, Homberg JC, Hoofnagle JH, Kakumu S, Krawitt EL, Mackay IR, MacSween RNM, Maddrey WC, Manns MP, McFarlane IG, Meyer zum, Büschenfelde KH, Mieli-Vergani G, Nakanuma Y, Nishioka M, Penner E, Porta G, Portmann BC, Reed WD, Rodes J, Schalm SW, Scheuer PJ, Schrumpf E, Seki T, Toda G, Tsuji T, Tygstrup N, Vergani D, Zeniyaet M. 1999. International Autoimmune Hepatitis Group Report: Review of criteria for diagnosis of autoimmune hepatitis. J Hepatol 31: 929-938.
4. Amoroso A, Garzia P, Vadaeea M, Galluzzo S, Del Porto F, Mitterhofer AP, Meltra A. 2003. The unusual association of three autoimmune diseases in a patient with Noonan syndrome. J Adolesc Health 32: 94-97.
5. Benseñor IM, Goulart AC, Lotufo PA, Menezes PR, Scazufca M. 2011. Prevalence of thyroid disorders among older people: Results from the São Paulo Ageing & Health Study. Cad Saude Publica 27: 155-161.
6. Berberich MS, Hall JG. 1976. Noonan syndrome-an unusual family with above average intelligence, a high incidence of cancer and rare type of vasculitis. Birth Defects Orig Artic Ser 12: 181-186.
7. Catassi C, Fasano A. 2010. Celiac disease diagnosis: Simple rules are better than complicated algorithms. Am J Med 123: 691-693.
8. Chaves-Carballo E, Hayles AB. 1966. Ullrich- Turner syndrome in the male:Review of the literature and report of a case with Iymphocytic (Hashimoto's) thyroiditis. Mayo Clin Proc 41: 843-854.
9. De Block CE, De Leeuw IH, Van Gaal LF. 2008. Autoimmune gastritis in type 1 diabetes: A clinically oriented review. J Clin Endocrinol Metab 93: 363-371.
10. Espinosa G, Cervera R. 2010. Antiphospholipid syndrome: Frequency, main causes and risk factors of mortality. Nat Rev Rheumatol 6: 296-300.
11. Franklyn JA. Hypothyroidism. Medicine 2005. 33: 27-29.
12. Hochberg MC. 1997. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum Sep 40: 1725.
13. Iivanainen AV, Lindqvist C, Mustelin T, Andersson LC. 1990. Phosphotirisine phosphatases are involved in reversion of T linphoblastic proliferation. Eur J Immunol 20: 2509-2512.
14. Kavamura MI, Peres CA, Alchorne MM, Brunoni D. 2002. CFC index for the diagnosis of cardiofaciocutaneous syndrome. Am J Med Genet 112: 12-16.
15. Leventopoulos G, Denayer E, Makrythanasis P, Papapolychroniou C, Fryssira H. 2010. Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation. Clin Exp Rheumatol 28: 556-557.
16. Lisbona MP, Moreno M, Orellana C, Gratacos J, Larrosa M. 2009. Noonan syndrome associated with systemic lupus erythematosus. Lupus 18: 267-269.
17. Lopez-Rangel E, Malleson PN, Lirenman DS, Roa B, Wiszniewska J, Lewis ME. 2005. Systemic Lupus Erythematous and other autoimmune disorders in children with Noonan Syndrome. Am J Med Genet Part A 139A: 239-242.
18. Martin DM, Gencyuz CF, Petty EM. 2001. Systemic lupus erythematosus in a man with Noonan syndrome. Am J Med Genet 102: 59-62.
19. Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R, Derksen RH, DE Groot PG, Koike T, Meroni PL, Reber G, Shoenfeld Y, Tincani A, Vlachoyiannopoulos PG, Krilis SA. 2006. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 4: 295-306.
20. Mor A, Philips MR, Pillinger MH. 2007. The role of Ras signaling in lupus T lymphocytes: Biology and pathogenesis. Clin Immunol 125: 215-223.
21. Mustelin T, Vang T, Bottini N. 2005. Protein tyrosine phosphatases and the immune response. Nat Rev Immunol 5: 43-57.
22. Mustelin T. 2006. Are other protein tyrosine phosphatases than PTPN22 associated with autoimmunity? Semin Immunol 18: 254-260.
23. National Institutes of Health Autoimmune Disease Coordinating Committee Report, 2002. Bethesda (MD): The Institutes; 2002.
24. Primo J, Merino C, Fernández J, Molés JR, Llorca P, Hinojosa J. 2004. Incidence and prevalence of autoimmune hepatitis in the area of the Hospital de Sagunto (Spain). Gastroenterol Hepatol 27: 239-243.
25. Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G. 2006. The cardiofaciocutaneous syndrome. J Med Genet 43: 833-842.
26. Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. 2010. Noonan syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics 126: 746-759.
27. Sehgal VN, Srivastava G. 2007. Vitiligo: Compendium of clinico-epidemilogical features. Indian J Dermatol Venereol Leprol 73: 149-156.
28. Sharland M, Burch M, McKena WM, Patton MA. 1992. A clinicaI study of Noonan syndrome. Arch Dis Child 67: 178-183.
29. Stone JC. 2006. Regulation of Ras in lymphocytes: Get a GRP. Biochem Soc Trans 34: 858-861.
30. Svensson J, Carlsson A, Ericsson UB, Westphal O, Ivarsson SA. 2003. Noonan's syndrome and autoimmune diseases. J Pediatr Endocrinol Metab 16: 217-218.
31. Tartaglia M, Gelb BD, Zenker M. 2011. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab 25: 161-179.
32. van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. 1994. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 53: 187-191.
33. Vang T, Miletic AV, Bottini N, Mustelin T. 2007. Protein tyrosine phosphatase in human autoimmunity. Autoimmunity 40: 453-461.
34. Vesterhus P, Aarskog D. 1973. Noonan's syndrome and autoimmune thyroiditis. J Pediatr 83: 237-240.
35. Voron DA, Hatfield HH, Kalkhoff RK. 1976. Multiple lentigines syndrome. Case report and review of the literature. Am J Med 60: 447-456.
36. Yamashita Y, Kusaga A, Koga Y, Nagamitsu S, Matsuishi T. 2004. Noonan syndrome, moyamoya-like vascular changes, and antiphospholipid syndrome. Pediatr Neurol 31: 364-366.