medigraphic.com
ISSN 1561-2996 (Electronic)
ISSN 0864-0289 (Print)

2014, Number 3

<< Back Next >>

Rev Cubana Hematol Inmunol Hemoter 2014; 30 (3)

Chronic granulomatous disease

Marsán SV, del Valle PLO, Macías AC, Palma SL, García GI, Sánchez SM, Arce HAA, Villaescusa BR

Language: Spanish
References: 20
Page: 280-287
PDF size: 152.04 Kb.


ABSTRACT

Chronic granulomatous disease (CGD) is a primary immunodeficiency with a defect of the phagocytosis process. A 13 year-old adolescent with recurrent lifethreatening episodes since one month of birth is presented. The main clinical manifestations included diarrhea, stomatitis, cellulitis, lymphadenitis, pneumonia, granuloma formation, pulmonary tuberculosis, pulmonary and hepatic abscesses. Physical examination showed poor growth, hepatomegaly, adenopathies, hyperextension of extremities and chronic gingivitis. Immunological studies showed normal concentrations of immunoglobulins (Ig): IgM: 0.98 g/L (0.69-2.69 g/L), IgA: 2.76 g/L (1.58–3.94 g/L) and IgE: 11.70 UI/mL (< 50 UI/mL), C3 and C4 (1.28 g/L (0.9–1.7 g/L) and 0.30 g/L (0.2–0.4 g/L), respectively, and hypergammaglobulinemia of 17.2 g/L (7.81–15.30 g/L). Lymphocytes count T CD3, CD4 and CD8 positive were normal: 62 % (52-78 %), 45 % (25-48 %) y 15 % (9-35 %) and B lymphocytes count was also normal: 24 % (8-24 %). Opsonophagocytic index was normal at time 15 and 60 minutes: 35 % (22.99–53.95 %) and 12.50 % (6.63–28.43 %), respectively. Diagnosis was confirmed with negative nitroblue tetrazolium test. Treatment with antibiotics, fungistats, as well as gamma interferon contributed to a favorable response, presenting a lower amount of infectious episodes as well as a recovery of weight and height. Early diagnosis and treatment of CGD has improved prognosis and reduced patients´ morbidity and mortality.


REFERENCES

  1. Wintergerst U, Rosenzweig SD, Abinun M, Malech HL. Phagocytes defects. In: Reza N, Notarangelo LD, Aghamohammadi A, ed. Primary immunodeficiency diseases. Berlin: Springer Berlin Heidelberg; 2008. p. 143-56.

  2. Rezaei N, Aghamohammadi A, Notarangelo L. Primary immunodeficiency disease. 1st ed. Bagdad: Springer-Verlag Berlin Heidelberg; 2008.

  3. Janeway CA, Craig J, Davison M, Doropney W. Hypergammaglobulinemia associated with severe, recurrent, and chronic non specific infection. Am J Dis Child. 1954;88:388-92.

  4. Geha RS, Notarangelo LD, Casanova J. The International Union of Immunological Societies (IUIS) Primary Immunodeficiency Diseases (PID) Classification Committee. J Allergy Clin Immunol. 2007 Oct;120(4):776-94.

  5. Leiva LE, Zelazco M, Oleastro M, Carneiro-Sampaio M. Primary immunodeficiency diseases in Latin America: The second report of the LAGID registry. J Clin Immunol. 2007 Jan;27(1):101-8.

  6. Stasia MJ, Li XJ. Genetics and immunopathology of chronic granulomatous disease. Semin Immunopathol. 2008 Jul;30(3):209-35. doi:10.1007/s00281-008-0121-8.

  7. Cornejo M, López JA, Navarro S, García D, Patiño PJ. Caracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox. Rev Med Chile. [revista en la Internet]. 2000 Mayo [citado 2011 Dic 26] ;128(5):490-8. Disponible en: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S003498872000000500006 &lng=es . doi: 10.4067/S0034-98872000000500006

  8. García-Hernández A, Lugo-Reyes S, Yamazaki-Nakashimada MA.Reporte de una familia con enfermedad granulomatosa crónica con afección en gp91phox. Rev Alerg Mex. 2010 Mar-Apr;57(2):60-5.

  9. Castillo JL, Venegas O, Pereira P, Ibacache M. Evaluacion del estallido respiratorio en granulocitos de pacientes con alteraciones clínicas de la función fagocitica. Rev Latinoam Actual Biomed. 2008;2:26-30.

  10. Martire B, Rondelli R, Soresina A, Pignata C. Clinical features, long-term followup and outcome of a large cohort of patients with chronic granulomatous disease: an Italian Multicenter Study. Clin Immunol. 2008 Feb;126(2):155-64.

  11. Álvarez-Cardona A, Yamazaki-Nakashimada MA, Espinosa-Padilla SE. Enfermedad granulomatosa crónica. Alergia Rev Mex. 2009;56(5):165-74.

  12. Segal BH, Romani L, Puccetti P. Chronic granulomatous disease. Cell Mol Life Sci. 2009 Feb;66(4):553-8. doi:10.1007/s00018-009-8506-y

  13. Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010 Feb;38(1):3-10. doi:10.1007/s12016-009-8136-z

  14. Rosenzweig SD. Inflammatory manifestations in chronic granulomatous disease (CGD). J Clin Immunol. 2008 May;28(Suppl 1):S67-72. doi:10.1007/s10875-007-9160-5

  15. Ramírez-Vargas NG, Berrón-Ruiz LR, Berrón-Pérez R, Blancas-Galicia L. Diagnóstico de enfermedad granulomatosa crónica; pacientes y portadoras. Rev Alergia Mex. 2011;58(2):120-5.

  16. Palma-Salgado L, Macías-Abraham C, del Valle-Pérez LO, Marsán-Suárez V. Comparación de dos métodos de cuantificación de la capacidad oxidativa de los neutrófilos. Rev Cubana Hematol Inmunol Hemoter. 2013 Abr-Jun;29(2):207-12.

  17. Qin Y, Lu M, Gong X. Dihydrorhodamine 123 is superior to 2,7-dichlorodihydrofluorescein diacetate and dihydrorhodamine 6G in detecting intracellular hydrogen peroxide in tumor cells. Cell Biol International. 2008 Feb;32(2):224-8.

  18. Errante PR, Frazão JB, Condino-Neto A. The use of interferon-gamma therapy in chronic granulomatous disease. Recent Pat Antiinfect Drug Discov. 2008 Nov;3(3):225-30.

  19. Porta F, Forino C, De Martiis D, Soncini E, Notarangelo L, Tettoni K, et al. Stem cell transplantation for primary immunodeficiencies. Bone Marrow Transplant. 2008 Jun;41(Suppl 2):S83-6. doi:10.1038/bmt.2008.61

  20. Thrasher AJ. Gene therapy for primary immunodeficiencies. Immunol Allergy Clin North Am. 2008 May;28(2):457-71, xi. doi:10.1016/j.iac.2008.02.001




2020     |     www.medigraphic.com