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01-08-2007 | Original Paper

Successful unrelated bone marrow transplantation in a child with chronic granulomatous disease complicated by pulmonary and cerebral granuloma formation

Authors: Catharina Schuetz, Manfred Hoenig, Ansgar Schulz, Min Ae Lee-Kirsch, Joachim Roesler, Wilhelm Friedrich, Horst von Bernuth

Published in: European Journal of Pediatrics | Issue 8/2007

Abstract

We report on a 6-year-old boy with chronic granulomatous disease (CGD) complicated by chronic inflammatory reactions with formation of large pulmonary granuloma as well as intracerebral lesions. Bone marrow transplantation (BMT) from an unrelated donor led to stable reconstitution, to rapid resolution of pulmonary granuloma, and to rapid resolution of intracerebral lesions.

Agus S, Spektor S, Israel Z (2000) CNS granulomatosis in a child with chronic granulomatous disease. Br J Neurosurg 14:59–61PubMedCrossRef

Alsultan A, Williams MS, Lubner S, Goldman FD (2006) Chronic granulomatous disease presenting with disseminated intracranial aspergillosis. Pediatr Blood Cancer 47:107–110PubMedCrossRef

Brown JR, Goldblatt D, Buddle J, Morton L, Thrasher AJ (2003) Diminished production of anti-inflammatory mediators during neutrophil apoptosis and macrophage phagocytosis in chronic granulomatous disease (CGD). J Leukoc Biol 73:591–599PubMedCrossRef

Fleischmann J, Church JA, Lehrer RI (1986) Primary Candida meningitis and chronic granulomatous disease. Am J Med Sci 291:334–341PubMedCrossRef

Foster CB, Lehrnbecher T, Mol F, Steinberg SM, Venzon DJ, Walsh TJ, Noack D, Rae J, Winkelstein JA, Curnutte JT, Chanock SJ (1998) Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. J Clin Invest 102:2146–2155PubMedCrossRef

Gardai S, Whitlock BB, Helgason C, Ambruso D, Fadok V, Bratton D, Henson PM (2002) Activation of SHIP by NADPH oxidase-stimulated Lyn leads to enhanced apoptosis in neutrophils. J Biol Chem 277:5236–5246PubMedCrossRef

Goldblatt D (2002) Current treatment options for chronic granulomatous disease. Expert Opin Pharmacother 3:857–863PubMedCrossRef

Hadfield MG, Ghatak NR, Laine FJ, Myer EC, Massie FS, Kramer WM (1991) Brain lesions in chronic granulomatous disease. Acta Neuropathol (Berl) 81:467–470CrossRef

Kasahara Y, Iwai K, Yachie A, Ohta K, Konno A, Seki H, Miyawaki T, Taniguchi N (1997) Involvement of reactive oxygen intermediates in spontaneous and CD95 (Fas/APO-1)-mediated apoptosis of neutrophils. Blood 89:1748–1753PubMed

10.

Lekstrom-Himes JA, Kuhns DB, Alvord WG, Gallin JI (2005) Inhibition of human neutrophil IL-8 production by hydrogen peroxide and dysregulation in chronic granulomatous disease. J Immunol 174:411–417PubMed

11.

Liese J, Kloos S, Jendrossek V, Petropoulou T, Wintergerst U, Notheis G, Gahr M, Belohradsky BH (2000) Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. J Pediatr 137:687–693PubMedCrossRef

12.

Meischl C, Roos D (1998) The molecular basis of chronic granulomatous disease. Springer Semin Immunopathol 19:417–434PubMedCrossRef

13.

Roesler J, Heyden S, Burdelski M, Schafer H, Kreth HW, Lehmann R, Paul D, Marzahn J, Gahr M, Rosen-Wolff A (1999) Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease. Exp Hematol 27:505–511PubMedCrossRef

14.

Roesler J, Koch A, Porksen G, von Bernuth H, Brenner S, Hahn G, Fischer R, Lorenz N, Gahr M, Rosen-Wolff A (2005) Benefit assessment of preventive medical check-ups in patients suffering from chronic granulomatous disease (CGD). J Eval Clin Pract 11:513–521PubMedCrossRef

15.

Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM (2000) Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79:170–200CrossRef

16.

Seger RA, Gungor T, Belohradsky BH, Blanche S, Bordigoni P, Di Bartolomeo P, Flood T, Landais P, Muller S, Ozsahin H, Passwell JH, Porta F, Slavin S, Wulffraat N, Zintl F, Nagler A, Cant A, Fischer A (2002) Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985–2000. Blood 100:4344–50PubMedCrossRef

17.

von Bernuth H, Knoechel B, Bergert R, Winkler U, Wendisch J, Hahn G, Rupprecht E, Roesler J, Gahr M (2003) Clinical presentation, diagnosis and therapy of granulomatous inflammations in patients with chronic granulomatous disease (CGD). Monatsschr Kinderheilkd 151:49–56CrossRef

18.

Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JI, Malech HL, Holland SM, Ochs H, Quie P, Buckley RH, Foster CB, Chanock SJ, Dickler H (2000) Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79:155–169CrossRef

Title: Successful unrelated bone marrow transplantation in a child with chronic granulomatous disease complicated by pulmonary and cerebral granuloma formation
Authors: Catharina Schuetz
Manfred Hoenig
Ansgar Schulz
Min Ae Lee-Kirsch
Joachim Roesler
Wilhelm Friedrich
Horst von Bernuth
Publication date: 01-08-2007
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 8/2007
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-006-0317-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Successful unrelated bone marrow transplantation in a child with chronic granulomatous disease complicated by pulmonary and cerebral granuloma formation

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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