nach oben

Erschienen in:

01.05.2013 | Original Research

Diabetes, Renal and Cardiovascular Disease in p47^phox−/− Chronic Granulomatous Disease

verfasst von: Jennifer W. Leiding, Beatriz E. Marciano, Christa S. Zerbe, Suk See DeRavin, Harry L. Malech, Steven M. Holland

Erschienen in: Journal of Clinical Immunology | Ausgabe 4/2013

Einloggen, um Zugang zu erhalten

Abstract

Chronic granulomatous disease is a rare immunodeficiency due to defects in the phagocyte NADPH oxidase. The X-linked form (gp91^phox deficiency) accounts for about 70 % of cases; autosomal recessive p47^phox deficiency accounts for about 25 % of cases. We identified a 10 % incidence of diabetes in p47^phox deficient CGD, but none in X-linked CGD. Renal and cardiovascular diseases were also higher in p47^phox deficiency. p47^phox deficient CGD has non-infectious morbidities distinct from those in X-linked CGD.

Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010;38(1):3–10.PubMedCrossRef

Matute JD, Arias AA, Wright NA, Wrobel I, Waterhouse CC, Li XJ, et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood. 2009;114(15):3309–15. Epub 2009/08/21.PubMedCrossRef

Ushio-Fukai M. Localizing NADPH oxidase-derived ROS. Sci STKE. 2006;2006(349):re8. Epub 2006/08/24.PubMed

Martire B, Rondelli R, Soresina A, Pignata C, Broccoletti T, Finocchi A, et al. Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study. Clin Immunol. 2008;126(2):155–64. Epub 2007/11/27.PubMedCrossRef

Winkelstein JA, Marino MC, Johnston Jr RB, Boyle J, Curnutte J, Gallin JI, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore). 2000;79(3):155–69. Epub 2000/06/09.

Kuhns DB, Alvord WG, Heller T, Feld JJ, Pike KM, Marciano BE, et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010;363(27):2600–10. Epub 2010/12/31.PubMedCrossRef

Wynne SM, Kwon-Chung KJ, Shea YR, Filie AC, Varma A, Lupo P, et al. Invasive infection with Trichosporon inkin in 2 siblings with chronic granulomatous disease. J Allergy Clin Immunol. 2004;114(6):1418–24. Epub 2004/12/04.PubMedCrossRef

Nerurkar LS, Jacob A, Zeligs B, Walser J, Yeager Jr H, Bellanti JA. Chronic granulomatous disease in an adult. South Med J. 1987;80(10):1296–302. Epub 1987/10/01.PubMedCrossRef

Siddiqui S, Anderson VL, Hilligoss DM, Abinun M, Kuijpers TW, Masur H, et al. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin Infect Dis. 2007;45(6):673–81. Epub 2007/08/23.PubMedCrossRef

10.

Bolanowski A, Mannon RB, Holland SM, Malech HL, Aschan J, Palmblad J, et al. Successful renal transplantation in patients with chronic granulomatous disease. Am J Transplant. 2006;6(3):636–9. Epub 2006/02/14.PubMedCrossRef

11.

Walther MM, Malech H, Berman A, Choyke P, Venzon DJ, Linehan WM, et al. The urological manifestations of chronic granulomatous disease. J Urol. 1992;147(5):1314–8. Epub 1992/05/01.PubMed

12.

Carson MJ, Chadwick DL, Brubaker CA, Cleland RS, Landing BH. Thirteen boys with progressive septic granulomatosis. Pediatrics. 1965;35:405–12. Epub 1965/03/01.PubMed

13.

Dilworth JA, Mandell GL. Adults with chronic granulomatous disease of “childhood”. Am J Med. 1977;63(2):233–43. Epub 1977/08/01.PubMedCrossRef

14.

Kimpen J, Van Damme-Lombaerts R, Van den Berghe G, Proesmans W. Autosomal recessive chronic granulomatous disease associated with 18q-syndrome and end-stage renal failure due to Henoch-Schonlein nephritis. Eur J Pediatr. 1991;150(5):325–6. Epub 1991/03/01.PubMedCrossRef

15.

van Rhenen DJ, Koolen MI, Feltkamp-Vroom TM, Weening RS. Immune complex glomerulonephritis in chronic granulomatous disease. Case report of an eighteen-year-old girl. Acta Med Scand. 1979;206(3):233–7. Epub 1979/01/01.PubMed

16.

Frifelt JJ, Schonheyder H, Valerius NH, Strate M, Starklint H. Chronic granulomatous disease associated with chronic glomerulonephritis. Acta Paediatr Scand. 1985;74(1):152–7. Epub 1985/01/01.PubMedCrossRef

17.

Forbes GS, Hartman GW, Burke EC, Segura JW. Genitourinary involvement in chronic granulomatous disease of childhood. AJR Am J Roentgenol. 1976;127(4):683–6. Epub 1976/10/01.PubMedCrossRef

18.

De Seigneux R, Kanfer A, Terrioux P, Sraer JD, Whitworth JA. Letter: Renal amyloidosis in chronic granulomatous disease. Br Med J. 1974;4(5938):230. Epub 1974/10/26.PubMedCrossRef

19.

Dechelette E, Rossignol AM, Gout JP, Poirot P, Frappat P, Bost M. [Renal amylosis and chronic septic granulomatosis. Apropos of a case]. Pediatrie. 1977;32(6):UNKNOWN. Epub 1977/09/01. Amylose renale et granulomatose septique chronique. A propos d’une observation.

20.

Kaltenis P, Mudeniene V, Maknavicius S, Seinin D. Renal amyloidosis in a child with chronic granulomatous disease and invasive aspergillosis. Pediatr Nephrol. 2008;23(5):831–4. Epub 2008/01/12.PubMedCrossRef

21.

Peces R, Ablanedo P, Seco M. [Amyloidosis associated with chronic granulomatous disease in a patient with a renal transplant and recurrent urinary tract infections]. Nefrologia. 2002;22(5):486–91. Epub 2002/12/25. Amiloidosis asociada a enfermedad granulomatosa cronica en una paciente con un trasplante renal e infecciones urinarias de repeticion.PubMed

22.

Yamazaki H, Nishi S, Chou T, Nakagawa Y, Shimada H, Nunoi H, et al. Two brothers with p47-phox-deficient chronic granulomatous disease associated with end-stage renal failure. Nephrol Dial Transplant. 1995;10(12):2334–6. Epub 1995/12/01.PubMed

23.

Hafner J, Enderlin A, Seger RA, Wuthrich B, Bruckner-Tudermann L, Panizzoni P, et al. Discoid lupus erythematosus-like lesions in carriers of X-linked chronic granulomatous disease. Br J Dermatol. 1992;127(4):446–7. Epub 1992/10/01.PubMedCrossRef

24.

De Ravin SS, Naumann N, Cowen EW, Friend J, Hilligoss D, Marquesen M, et al. Chronic granulomatous disease as a risk factor for autoimmune disease. J Allergy Clin Immunol. 2008;122(6):1097–103.PubMedCrossRef

25.

Tse HM, Thayer TC, Steele C, Cuda CM, Morel L, Piganelli JD, et al. NADPH oxidase deficiency regulates Th lineage commitment and modulates autoimmunity. J Immunol. 2010;185(9):5247–58. Epub 2010/10/01.PubMedCrossRef

26.

Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, et al. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells Mol Dis. 2010;44(4):291–9. Epub 2010/02/20.PubMedCrossRef

27.

Gorlach A, Lee PL, Roesler J, Hopkins PJ, Christensen B, Green ED, et al. A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease. J Clin Invest. 1997;100(8):1907–18. Epub 1997/10/23.PubMedCrossRef

28.

Brunson T, Wang Q, Chambers I, Song Q. A copy number variation in human NCF1 and its pseudogenes. BMC Genet. 2010;11:13. Epub 2010/02/25.PubMedCrossRef

29.

Pignatelli P, Carnevale R, Di Santo S, Bartimoccia S, Sanguigni V, Lenti L, et al. Inherited human gp91phox deficiency is associated with impaired isoprostane formation and platelet dysfunction. Arterioscler Thromb Vasc Biol. 2011;31(2):423–34. Epub 2010/11/13.PubMedCrossRef

30.

Violi F, Sanguigni V, Carnevale R, Plebani A, Rossi P, Finocchi A, et al. Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study. Circulation. 2009;120(16):1616–22. Epub 2009/10/07.PubMedCrossRef

31.

Loukogeorgakis SP, van den Berg MJ, Sofat R, Nitsch D, Charakida M, Haiyee B, et al. Role of NADPH oxidase in endothelial ischemia/reperfusion injury in humans. Circulation. 2010;121(21):2310–6. Epub 2010/05/19.PubMedCrossRef

Titel: Diabetes, Renal and Cardiovascular Disease in p47 phox−/− Chronic Granulomatous Disease
verfasst von: Jennifer W. Leiding
Beatriz E. Marciano
Christa S. Zerbe
Suk See DeRavin
Harry L. Malech
Steven M. Holland
Publikationsdatum: 01.05.2013
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 4/2013
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-013-9871-8

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Innere Medizin

23.04.2024 | Ablationstherapie | Nachrichten

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Diabetes, Renal and Cardiovascular Disease in p47^phox−/− Chronic Granulomatous Disease

Abstract

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Wie erfolgreich ist eine Re-Ablation nach Rezidiv?

Europäische Ernährungsgewohnheiten: Das sind die häufigsten Fehler

Hinter dieser Appendizitis steckte ein Erreger

Demenzkranke durch Antipsychotika vielfach gefährdet

Update Innere Medizin

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 4/2013

Imbalanced Expression of T-bet and T Cell Immunoglobulin Mucin-3 in Patients with Aplastic Anaemia

Rapid Detection of Intracellular p47phox and p67phox by Flow Cytometry; Useful Screening Tests for Chronic Granulomatous Disease

Clinical, Immunological and Genetic Findings of a Large Tunisian Series of Major Histocompatibility Complex Class II Deficiency Patients

Common Variable Immune Deficiency in Children—Clinical Characteristics Varies Depending on Defect in Peripheral B Cell Maturation

Critical Differences in Hematopoiesis and Lymphoid Development between Humans and Mice

Quantification of IgM and IgA Anti-Pneumococcal Capsular Polysaccharides by a New ELISA Assay: a Valuable Diagnostic and Prognostic Tool for Common Variable Immunodeficiency

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Wie erfolgreich ist eine Re-Ablation nach Rezidiv?

Europäische Ernährungsgewohnheiten: Das sind die häufigsten Fehler

Hinter dieser Appendizitis steckte ein Erreger

Demenzkranke durch Antipsychotika vielfach gefährdet

Update Innere Medizin