Aggiornamento monografico
Malattia granulomatosa cronica: una diagnosi che può sfuggire
CHRONIC GRANULOMATOUS DISEASE
1CLAUDIO PIGNATA, 2LUCIANO BALDUCCI, 3MARIA BARDARE, 4DOMENICO DE MATTIA, 5MAURO GIACCA, 6ALESSANDRO VENTURA
1Dipartimento di Pediatria, Università “Federico II”, Napoli
2Clinica Pediatrica, Università “La Sapienza”, Roma
3Clinica Pediatrica 1a, Università di Milano
4Dipartimento di Biomedicina dell’Età Evolutiva, Università di Bari
5International Centre for Genetic Engineering and Biotechnology, Trieste
6Clinica Pediatrica, IRCCS “Burlo Garofolo”, Trieste
Marzo 1998 - pagg. 155 -160
Abstract
This is a comprehensive review article aimed
at providing to paediatricians the basic
knowledge on CGD and at improving
the quality of care of patients affected by
this rare disorder of cellular immune response.
Since early diagnosis is very important,
signs and symptoms that should
lead paediatricians to suspect a CGD are
illustrated. A diagnostic approach based
on first level screening investigations and
second level confirmatory tests is also suggested.
The biochemical and molecular features
of the disease are analyzed, as they
provide the basis for understanding the clinical
etherogeneity of the disease, as well
as the innovative therapeutic strategies that
are being at present evaluated.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
1. Curnutte JT: Chronic granulomatous disease:
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2. Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, Ahlin A, Nemet K, Hossle JP, Bernatowska-Matuszkiewicz E, Middleton-Price H: Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 87, 1663, 1996.
3. Orkin SH: Molecular genetics of chronic granulomatous disease. Ann Rev Immunol 7, 277, 1989.
4. Smith RM, Curnutte JT: Molecular basis of chronic granulomatous disease. Blood 77, 673, 1991.
5. Roos D: The genetic basis of chronic granulomatous disease. Immunol Rev 138, 121, 1994.
6. Weening RS, Adriaansz LH, Weemaes CMR, Lutter R, Roos D: Clinical differences in chronic granulomatous disease in patients with cytochrome b-negative or cytochrome bpositive neutrophils. J Pediatr 107, 102, 1985.
7. Forehand JR, Johnston RBJ: Chronic granulomatous disease: newly defined molecular abnormalities explain disease variability and normal phagocyte physiology. Current Opinion in Pediatrics 6, 668, 1994.
8. Liese JG, Jendrossek V, Jansson A, Petropoulou T, Kloos S, Gahr M, Belohradsky BH: Chronic granulomatous disease in adults. Lancet 347, 220, 1996.
9. Mouy R, Fischer A, Vilmer E, Seger R, Griscelli C: Incidence, severity, and prevention of infections in chronic granulomatous disease. J Pediatr 114, 555, 1989.
10. Johnston RBJ, Newman SL: Chronic granulomatous disease. Pediatr Clin North Am 24, 365, 1977.
11. Forrest CB, Forehand JR, Axtell RA, Roberts RL, Johnston RBJ: Clinical features and current management of chronic granulomatous disease. In: Curnutte JT, ed. Hematology Oncology Clinics of North America: Phagocytic Defects II. Philadelphia PA, WB Saunders Company, 253, 1988.
12. Hitzig WH, Seger RA: Chronic granulomatous disease, a heterogeneous syndrome. Hum Genet 64, 207, 1983.
13. Hayakawa H, Kobayashi N, Yata J: Chronic granulomatous disease in Japan: a summary of the clinical features of 84 registered patients. Acta Paediatr Jpn 27, 1, 1985.
14. Tauber AI, Borregaard N, Simons E, Wright J: Chronic granulomatous disease: a syndrome of phagocyte oxidase deficiencies. Medicine 62, 286, 1983.
15. Gallin JI, Buescher ES, Seligmann BE, Nath J, Gaither T, Kazt P: Recent advances in chronic granulomatous disease. Ann Intern Med 99, 657, 1983.
16. Cohen MS, Isturiz RE, Malech HL, Root RK, Wilfert CM, Gutman L, Buckley RH: Fungal infection in chronic granulomatous disease. Am J Med 71, 59, 1981.
17. Schettini F: La Malattia Granulomatosa Cronica. Riv Ital Ped 13, 495, 1987.
18. Jacobs R, Wilson C: Activity of antibiotics in chronic granulomatous disease leukocytes. Pediatr Res 17, 916, 1983.
19. Neijens H: Invasive Aspergillus infection in chronic granulomatous disease: treatment with itraconazole. J Pediatr 115, 1016, 1989.
20. Todd P, Goa K: Interferon g 1-b. A review of its pharmacology and therapeutic potential in chronic granulomatous disease. Drugs 43, 111, 1982.
21. The international chronic granulomatous disease cooperative study group: A controlled trial of interferon g to prevent infection in chronic granulomatous disease. N Engl J Med 8, 509, 1981.
22. Buescher E: Leukocyte transfusion in chronic granulomatous disease. N Engl J Med 307, 800, 1982.
23. Di Bartolomeo P, Schettini F, De Mattia D, Manzionna M: Reconstitution of normal neutrophil function in chronic granulomatous disease by bone marrow transplantation. Bone Marrow Transplantation 4, 695, 1989.
24. Thrasher A, Chetty M, Casimir C, Segal AW: Restoration of superoxide generation to a chronic granulomatous disease-derived Bcell line by retrovirus mediated gene transfer. Blood 80, 1125, 1992.
25. Li F, Linton GF, Sekhsaria S, Whiting- Theobald N, Katkin JP, Gallin JI, Malech HL: CD34+ peripheral blood progenitors as a targt for genetic correction of the two flavocytochrome b558 defective forms of chronic granulomatous disease. Blood 84, 53, 1994.
26. Zentilin L, Tafuro S, Grassi G, Garcia R, Ventura A, Baralle FE, Falaschi A, Giacca M: Functional reconstitution of oxidase activity in X-linked chronic granulomatous disease by retrovirus-mediated gene transfer. Exp Cell Res 225, 257, 1996.
27. Ding C, Kume A, Bjorgvinsdottir H, Hawley RG, Pech N, Dinauer MC: High-level reconstitution of respiratory burst activity in a human X-linked chronic granulomatous disease (X-CGD) cell line and correction of murine X-CGD bone marrow cells by retroviralmediated gene transfer of human gp91phox. Blood 88, 1834, 1996.
28. Okamura N, Curnutte JT, Roberts RL, Babior BM: Relationship of protein phosphorylation to the activation of the respiratory burst in human neutrophils. Defects in the phosphorylation of a group closely related 48-kDa proteins in two forms of chronic granulomatous disease. J Biol Chem 263, 6777, 1988.
29. Andrews PC, Babior BM: Phosphorylation of cytosolic proteins by resting and activated human neutrophils. Blood 64, 883, 1984.
30. Hayakawa T, Suzuiki K, Suzuki S, Andrews PC, Babior BM: A possible role for protein phosphorylation in the activation of the respiratory burst in human neutrophils. Evidence from studies with cells from patients with chronic granulomatous disease. J Biol Chem 261, 9109, 1986.
31. White JR, Huang CK, Hill JMJ: Effect of phorbol 12-myristate 13-acetate and its analogue 4-alpha-phorbol 12,13-didecanoate on protein phosphorylation and lysosomal enzyme release in rabbit neutrophils. J Biol Chem 259, 8605, 1984.
32. Pontremoli S, Melloni E, Salamino F, Sparatore B, Michetti M, Sacco O, Horecker BL: Phosphorylation of proteins in human neutrophils activated with phorbol myristate acetate or with chromotactic factor. Arch Biochem Biophys 250, 23, 1986.
33. Segal WW, Heyworth PG, Cockcroft S, Barrowman MM: Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein. Nature 316, 547, 1985.
34. Abo A, Pick E, Hall A, Totty N, Teahan CG, Segal AW: Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1. Nature 353, 668, 1991.
35. Knaus UG, Heyworth PG, Evans T, Curnutte JT, Bokoch GM: Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2. Science 254, 1512, 1991.
2. Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, Ahlin A, Nemet K, Hossle JP, Bernatowska-Matuszkiewicz E, Middleton-Price H: Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 87, 1663, 1996.
3. Orkin SH: Molecular genetics of chronic granulomatous disease. Ann Rev Immunol 7, 277, 1989.
4. Smith RM, Curnutte JT: Molecular basis of chronic granulomatous disease. Blood 77, 673, 1991.
5. Roos D: The genetic basis of chronic granulomatous disease. Immunol Rev 138, 121, 1994.
6. Weening RS, Adriaansz LH, Weemaes CMR, Lutter R, Roos D: Clinical differences in chronic granulomatous disease in patients with cytochrome b-negative or cytochrome bpositive neutrophils. J Pediatr 107, 102, 1985.
7. Forehand JR, Johnston RBJ: Chronic granulomatous disease: newly defined molecular abnormalities explain disease variability and normal phagocyte physiology. Current Opinion in Pediatrics 6, 668, 1994.
8. Liese JG, Jendrossek V, Jansson A, Petropoulou T, Kloos S, Gahr M, Belohradsky BH: Chronic granulomatous disease in adults. Lancet 347, 220, 1996.
9. Mouy R, Fischer A, Vilmer E, Seger R, Griscelli C: Incidence, severity, and prevention of infections in chronic granulomatous disease. J Pediatr 114, 555, 1989.
10. Johnston RBJ, Newman SL: Chronic granulomatous disease. Pediatr Clin North Am 24, 365, 1977.
11. Forrest CB, Forehand JR, Axtell RA, Roberts RL, Johnston RBJ: Clinical features and current management of chronic granulomatous disease. In: Curnutte JT, ed. Hematology Oncology Clinics of North America: Phagocytic Defects II. Philadelphia PA, WB Saunders Company, 253, 1988.
12. Hitzig WH, Seger RA: Chronic granulomatous disease, a heterogeneous syndrome. Hum Genet 64, 207, 1983.
13. Hayakawa H, Kobayashi N, Yata J: Chronic granulomatous disease in Japan: a summary of the clinical features of 84 registered patients. Acta Paediatr Jpn 27, 1, 1985.
14. Tauber AI, Borregaard N, Simons E, Wright J: Chronic granulomatous disease: a syndrome of phagocyte oxidase deficiencies. Medicine 62, 286, 1983.
15. Gallin JI, Buescher ES, Seligmann BE, Nath J, Gaither T, Kazt P: Recent advances in chronic granulomatous disease. Ann Intern Med 99, 657, 1983.
16. Cohen MS, Isturiz RE, Malech HL, Root RK, Wilfert CM, Gutman L, Buckley RH: Fungal infection in chronic granulomatous disease. Am J Med 71, 59, 1981.
17. Schettini F: La Malattia Granulomatosa Cronica. Riv Ital Ped 13, 495, 1987.
18. Jacobs R, Wilson C: Activity of antibiotics in chronic granulomatous disease leukocytes. Pediatr Res 17, 916, 1983.
19. Neijens H: Invasive Aspergillus infection in chronic granulomatous disease: treatment with itraconazole. J Pediatr 115, 1016, 1989.
20. Todd P, Goa K: Interferon g 1-b. A review of its pharmacology and therapeutic potential in chronic granulomatous disease. Drugs 43, 111, 1982.
21. The international chronic granulomatous disease cooperative study group: A controlled trial of interferon g to prevent infection in chronic granulomatous disease. N Engl J Med 8, 509, 1981.
22. Buescher E: Leukocyte transfusion in chronic granulomatous disease. N Engl J Med 307, 800, 1982.
23. Di Bartolomeo P, Schettini F, De Mattia D, Manzionna M: Reconstitution of normal neutrophil function in chronic granulomatous disease by bone marrow transplantation. Bone Marrow Transplantation 4, 695, 1989.
24. Thrasher A, Chetty M, Casimir C, Segal AW: Restoration of superoxide generation to a chronic granulomatous disease-derived Bcell line by retrovirus mediated gene transfer. Blood 80, 1125, 1992.
25. Li F, Linton GF, Sekhsaria S, Whiting- Theobald N, Katkin JP, Gallin JI, Malech HL: CD34+ peripheral blood progenitors as a targt for genetic correction of the two flavocytochrome b558 defective forms of chronic granulomatous disease. Blood 84, 53, 1994.
26. Zentilin L, Tafuro S, Grassi G, Garcia R, Ventura A, Baralle FE, Falaschi A, Giacca M: Functional reconstitution of oxidase activity in X-linked chronic granulomatous disease by retrovirus-mediated gene transfer. Exp Cell Res 225, 257, 1996.
27. Ding C, Kume A, Bjorgvinsdottir H, Hawley RG, Pech N, Dinauer MC: High-level reconstitution of respiratory burst activity in a human X-linked chronic granulomatous disease (X-CGD) cell line and correction of murine X-CGD bone marrow cells by retroviralmediated gene transfer of human gp91phox. Blood 88, 1834, 1996.
28. Okamura N, Curnutte JT, Roberts RL, Babior BM: Relationship of protein phosphorylation to the activation of the respiratory burst in human neutrophils. Defects in the phosphorylation of a group closely related 48-kDa proteins in two forms of chronic granulomatous disease. J Biol Chem 263, 6777, 1988.
29. Andrews PC, Babior BM: Phosphorylation of cytosolic proteins by resting and activated human neutrophils. Blood 64, 883, 1984.
30. Hayakawa T, Suzuiki K, Suzuki S, Andrews PC, Babior BM: A possible role for protein phosphorylation in the activation of the respiratory burst in human neutrophils. Evidence from studies with cells from patients with chronic granulomatous disease. J Biol Chem 261, 9109, 1986.
31. White JR, Huang CK, Hill JMJ: Effect of phorbol 12-myristate 13-acetate and its analogue 4-alpha-phorbol 12,13-didecanoate on protein phosphorylation and lysosomal enzyme release in rabbit neutrophils. J Biol Chem 259, 8605, 1984.
32. Pontremoli S, Melloni E, Salamino F, Sparatore B, Michetti M, Sacco O, Horecker BL: Phosphorylation of proteins in human neutrophils activated with phorbol myristate acetate or with chromotactic factor. Arch Biochem Biophys 250, 23, 1986.
33. Segal WW, Heyworth PG, Cockcroft S, Barrowman MM: Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein. Nature 316, 547, 1985.
34. Abo A, Pick E, Hall A, Totty N, Teahan CG, Segal AW: Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1. Nature 353, 668, 1991.
35. Knaus UG, Heyworth PG, Evans T, Curnutte JT, Bokoch GM: Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2. Science 254, 1512, 1991.