Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - Contribution to new findings of immune dysregulation in connective tissue disorders

Clinical Immunology

Volumn 150, Issue 1, 2014, Pages 43-50

  Felgentreff, Kerstin ^a,b   Siepe, Matthias ^c   Kotthoff, Stefan ^d   Von Kodolitsch, Yskert ^e   Schachtrup, Kristina ^b   Notarangelo, Luigi D ^a,f   Walter, Jolan E ^g   Ehl, Stephan ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY HEART CENTER FREIBURG BAD KROZINGEN   (Germany)

^d UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^e UNIVERSITY HEART CENTER HAMBURG   (Germany)

^f HARVARD STEM CELL INSTITUTE   (United States)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Allergy; Eczema; Hyper IgE; Loeys Dietz syndrome; TGF beta

Indexed keywords

IMMUNOGLOBULIN E; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1;

ALLERGIC RHINITIS; AORTA RUPTURE; ARTICLE; ASTHMA; CASE REPORT; CHILD; DECIDUOUS TOOTH; ECZEMA; FEMALE; HUMAN; HYPER IGE SYNDROME; IMMUNE DYSREGULATION; IMMUNOGLOBULIN BLOOD LEVEL; LOEYS DIETZ SYNDROME; LUNG LAVAGE; METHICILLIN RESISTANT STAPHYLOCOCCUS AUREUS; MISSENSE MUTATION; PHENOTYPE; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL;

ALLERGY; EBV; ECZEMA; EDS; EHLERS-DANLOS SYNDROME; EPSTEIN-BARR VIRUS; HIES; HYPER-IGE; HYPER-IGE SYNDROME; LDS; LOEYS-DIETZ SYNDROME; MARFAN SYNDROME; MFS; REGULATORY T CELLS; T(REG); TAAD; TGF-BETA; TGFBR; TGFΒ; THORACIC AORTIC ANEURYSM AND DISSECTIONS; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

ADOLESCENT; ADULT; CD4-POSITIVE T-LYMPHOCYTES; CHILD; CHILD, PRESCHOOL; CONNECTIVE TISSUE DISEASES; CYTOKINES; ECZEMA; FEMALE; HUMANS; IMMUNOGLOBULIN E; JOB SYNDROME; LOEYS-DIETZ SYNDROME; MIDDLE AGED; MUTATION, MISSENSE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; STAT3 TRANSCRIPTION FACTOR; TRANSFORMING GROWTH FACTOR BETA;

EID: 84890071803     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2013.11.008     Document Type: Article

References (34)

1. Oh S.A., Li M.O. TGF-beta: guardian of T cell function. J. Immunol. 2013, 191:3973-3979.
2. Kulkarni A.B., Huh C.G., Becker D., Geiser A., Lyght M., Flanders K.C., Roberts A.B., Sporn M.B., Ward J.M., Karlsson S. Transforming growth factor beta 1 null mutation in mice causes excessive inflammatory response and early death. Proc. Natl. Acad. Sci. U. S. A. 1993, 90:770-774.
3. Gorelik L., Flavell R.A. Abrogation of TGFbeta signaling in T cells leads to spontaneous T cell differentiation and autoimmune disease. Immunity 2000, 12:171-181.
4. Marie J.C., Liggitt D., Rudensky A.Y. Cellular mechanisms of fatal early-onset autoimmunity in mice with the T cell-specific targeting of transforming growth factor-beta receptor. Immunity 2006, 25:441-454.
5. Miyazono K., ten Dijke P., Heldin C.H. TGF-beta signaling by Smad proteins. Adv. Immunol. 2000, 75:115-157.
6. Kaartinen V., Warburton D. Fibrillin controls TGF-beta activation. Nat. Genet. 2003, 33:331-332.
7. Neptune E.R., Frischmeyer P.A., Arking D.E., Myers L., Bunton T.E., Gayraud B., Ramirez F., Sakai L.Y., Dietz H.C. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat. Genet. 2003, 33:407-411.
8. Loeys B.L., Chen J., Neptune E.R., Judge D.P., Podowski M., Holm T., Meyers J., Leitch C.C., Katsanis N., Sharifi N., Xu F.L., Myers L.A., Spevak P.J., Cameron D.E., De Backer J., Hellemans J., Chen Y., Davis E.C., Webb C.L., Kress W., Coucke P., Rifkin D.B., De Paepe A.M., Dietz H.C. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat. Genet. 2005, 37:275-281.
9. Boileau C., Guo D.C., Hanna N., Regalado E.S., Detaint D., Gong L., Varret M., Prakash S.K., Li A.H., d'Indy H., Braverman A.C., Grandchamp B., Kwartler C.S., Gouya L., Santos-Cortez R.L., Abifadel M., Leal S.M., Muti C., Shendure J., Gross M.S., Rieder M.J., Vahanian A., Nickerson D.A., Michel J.B., Jondeau G., Milewicz D.M. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat. Genet. 2012, 44:916-921.
10. Markowitz S., Wang J., Myeroff L., Parsons R., Sun L., Lutterbaugh J., Fan R.S., Zborowska E., Kinzler K.W., Vogelstein B., et al. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 1995, 268:1336-1338.
11. Wakefield L.M., Roberts A.B. TGF-beta signaling: positive and negative effects on tumorigenesis. Curr. Opin. Genet. Dev. 2002, 12:22-29.
12. Goudie D.R., D'Alessandro M., Merriman B., Lee H., Szeverenyi I., Avery S., O'Connor B.D., Nelson S.F., Coats S.E., Stewart A., Christie L., Pichert G., Friedel J., Hayes I., Burrows N., Whittaker S., Gerdes A.M., Broesby-Olsen S., Ferguson-Smith M.A., Verma C., Lunny D.P., Reversade B., Lane E.B. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat. Genet. 2011, 43:365-369.
13. Hatsushika K., Hirota T., Harada M., Sakashita M., Kanzaki M., Takano S., Doi S., Fujita K., Enomoto T., Ebisawa M., Yoshihara S., Sagara H., Fukuda T., Masuyama K., Katoh R., Matsumoto K., Saito H., Ogawa H., Tamari M., Nakao A. Transforming growth factor-beta(2) polymorphisms are associated with childhood atopic asthma. Clin. Exp. Allergy 2007, 37:1165-1174.
14. Kim S.H., Park H.S., Holloway J.W., Shin H.D., Park C.S. Association between a TGFbeta1 promoter polymorphism and rhinosinusitis in aspirin-intolerant asthmatic patients. Respir. Med. 2007, 101:490-495.
15. Morgan A.W., Pearson S.B., Davies S., Gooi H.C., Bird H.A. Asthma and airways collapse in two heritable disorders of connective tissue. Ann. Rheum. Dis. 2007, 66:1369-1373.
16. Bottema R.W., Kerkhof M., Reijmerink N.E., Thijs C., Smit H.A., van Schayck C.P., Brunekreef B., van Oosterhout A.J., Postma D.S., Koppelman G.H. Gene-gene interaction in regulatory T-cell function in atopy and asthma development in childhood. J. Allergy Clin. Immunol. 2010, 126:338-346. (346 e331-310).
17. Kim H.K., Jang T.W., Jung M.H., Park H.W., Lee J.E., Shin E.S., Cho S.H., Min K.U., Kim Y.Y. Association between genetic variations of the transforming growth factor ss receptor type III and asthma in a Korean population. Exp. Mol. Med. 2010, 42:420-427.
18. Frischmeyer-Guerrerio P.A., Guerrerio A.L., Oswald G., Chichester K., Myers L., Halushka M.K., Oliva-Hemker M., Wood R.A., Dietz H.C. TGFbeta receptor mutations impose a strong predisposition for human allergic disease. Sci. Transl. Med. 2013, 5:195ra194.
19. Abonia J.P., Wen T., Stucke E.M., Grotjan T., Griffith M.S., Kemme K.A., Collins M.H., Putnam P.E., Franciosi J.P., von Tiehl K.F., Tinkle B.T., Marsolo K.A., Martin L.J., Ware S.M., Rothenberg M.E. High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders. J. Allergy Clin. Immunol. 2013, 132:378-386.
20. Holland S.M., DeLeo F.R., Elloumi H.Z., Hsu A.P., Uzel G., Brodsky N., Freeman A.F., Demidowich A., Davis J., Turner M.L., Anderson V.L., Darnell D.N., Welch P.A., Kuhns D.B., Frucht D.M., Malech H.L., Gallin J.I., Kobayashi S.D., Whitney A.R., Voyich J.M., Musser J.M., Woellner C., Schaffer A.A., Puck J.M., Grimbacher B. STAT3 mutations in the hyper-IgE syndrome. N. Engl. J. Med. 2007, 357:1608-1619.
21. Minegishi Y., Saito M., Tsuchiya S., Tsuge I., Takada H., Hara T., Kawamura N., Ariga T., Pasic S., Stojkovic O., Metin A., Karasuyama H. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007, 448:1058-1062.
22. Worthington J.J., Fenton T.M., Czajkowska B.I., Klementowicz J.E., Travis M.A. Regulation of TGFbeta in the immune system: an emerging role for integrins and dendritic cells. Immunobiology 2012, 217:1259-1265.
23. Jones J.A., Spinale F.G., Ikonomidis J.S. Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis. J. Vasc. Res. 2009, 46:119-137.
24. Oshima M., Oshima H., Taketo M.M. TGF-beta receptor type II deficiency results in defects of yolk sac hematopoiesis and vasculogenesis. Dev. Biol. 1996, 179:297-302.
25. Ramalingam R., Larmonier C.B., Thurston R.D., Midura-Kiela M.T., Zheng S.G., Ghishan F.K., Kiela P.R. Dendritic cell-specific disruption of TGF-beta receptor II leads to altered regulatory T cell phenotype and spontaneous multiorgan autoimmunity. J. Immunol. 2012, 189:3878-3893.
26. Horbelt D., Guo G., Robinson P.N., Knaus P. Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. J. Cell Sci. 2010, 123:4340-4350.
27. Liu Y., Liu H., Meyer C., Li J., Nadalin S., Koenigsrainer A., Weng H., Dooley S., Ten Dijke P. TGF-beta mediated connective tissue growth factor (CTGF) expression in hepatic stellate cells requires Stat3 activation. J. Biol. Chem. 2013, 288(42):30708-30719.
28. Chandesris M.O., Melki I., Natividad A., Puel A., Fieschi C., Yun L., Thumerelle C., Oksenhendler E., Boutboul D., Thomas C., Hoarau C., Lebranchu Y., Stephan J.L., Cazorla C., Aladjidi N., Micheau M., Tron F., Baruchel A., Barlogis V., Palenzuela G., Mathey C., Dominique S., Body G., Munzer M., Fouyssac F., Jaussaud R., Bader-Meunier B., Mahlaoui N., Blanche S., Debre M., Le Bourgeois M., Gandemer V., Lambert N., Grandin V., Ndaga S., Jacques C., Harre C., Forveille M., Alyanakian M.A., Durandy A., Bodemer C., Suarez F., Hermine O., Lortholary O., Casanova J.L., Fischer A., Picard C. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore) 2012, 91:e1-e19.
29. Freeman A.F., Avila E.M., Shaw P.A., Davis J., Hsu A.P., Welch P., Matta J.R., Hadigan C., Pettigrew R.I., Holland S.M., Gharib A.M. Coronary artery abnormalities in hyper-IgE syndrome. J. Clin. Immunol. 2011, 31:338-345.
30. Volpe E., Servant N., Zollinger R., Bogiatzi S.I., Hupe P., Barillot E., Soumelis V. A critical function for transforming growth factor-beta, interleukin 23 and proinflammatory cytokines in driving and modulating human T(H)-17 responses. Nat. Immunol. 2008, 9:650-657.
31. de Beaucoudrey L., Puel A., Filipe-Santos O., Cobat A., Ghandil P., Chrabieh M., Feinberg J., von Bernuth H., Samarina A., Janniere L., Fieschi C., Stephan J.L., Boileau C., Lyonnet S., Jondeau G., Cormier-Daire V., Le Merrer M., Hoarau C., Lebranchu Y., Lortholary O., Chandesris M.O., Tron F., Gambineri E., Bianchi L., Rodriguez-Gallego C., Zitnik S.E., Vasconcelos J., Guedes M., Vitor A.B., Marodi L., Chapel H., Reid B., Roifman C., Nadal D., Reichenbach J., Caragol I., Garty B.Z., Dogu F., Camcioglu Y., Gulle S., Sanal O., Fischer A., Abel L., Stockinger B., Picard C., Casanova J.L. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J. Exp. Med. 2008, 205:1543-1550.
32. Habashi J.P., Judge D.P., Holm T.M., Cohn R.D., Loeys B.L., Cooper T.K., Myers L., Klein E.C., Liu G., Calvi C., Podowski M., Neptune E.R., Halushka M.K., Bedja D., Gabrielson K., Rifkin D.B., Carta L., Ramirez F., Huso D.L., Dietz H.C. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006, 312:117-121.
33. Holm T.M., Habashi J.P., Doyle J.J., Bedja D., Chen Y., van Erp C., Lindsay M.E., Kim D., Schoenhoff F., Cohn R.D., Loeys B.L., Thomas C.J., Patnaik S., Marugan J.J., Judge D.P., Dietz H.C. Noncanonical TGFbeta signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science 2011, 332:358-361.
34. Suda N., Moriyama K., Ganburged G. Effect of angiotensin II receptor blocker on experimental periodontitis in a mouse model of Marfan syndrome. Infect. Immun. 2013, 81:182-188.