Lupus Erythematosus and Chronic Granulomatous Disease: Report of Four Iranian Patients with AR-CGD and One XL-CGD
-
Marzieh Maddah
,
Mohammad Reza Fazlollahi
,
Reza Shiari
,
Farhad Shahram
,
Setareh Mamishi
,
Delara Babaie
,
Maryam Monajemzadeh
,
Soheila Sotudeh
,
Amir Ali Hamidieh
,
Mohsen Badalzadeh
,
Shaghayegh Tajik
,
Leila Sedighipour
,
Zahra Pourpak
Abstract
Chronic granulomatous disease (CGD) is a rare genetic disorder of neutrophil activity, resulting in increased rate of recurrent infections with catalase–positive bacteria and fungi, as well as various autoimmune diseases such as sarcoidosis, rheumatoid arthritis, and discoid and/or systemic lupus erythematosus. Few reports have reported lupus erythematosus (LE) in patients with X–linked CGD (XL-CGD) and carriers, and very few in autosomal recessive CGD (AR-CGD). Here, we present 5 patients with CGD developing LE at different ages to emphasize on the importance of appropriate follow–up and treatment in patients with CGD with clinical signs and symptoms of autoimmune diseases and even in those with negative serologic results.
1. Holland SM. Chronic granulomatous disease. Hematol Oncol Clin N Am 2013; 27:89-99.
2. 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.
3. 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.
4. Fattahi F, Badalzadeh M, Sedighipour L, Movahedi M, Fazlollahi MR, Mansouri SD, et al. Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease. J Clin Immunol 2011; 31(5):792-801.
5. Tajik S, Badalzadeh M, Fazlollahi MR, Houshmand M, Zandieh F, Khandan S, et al. A Novel CYBB Mutation in Chronic Granulomatous Disease in Iran. Iran J Allergy Asthma Immunol 2016; 15(5):426-9.
6. Kang EM, Marciano BE, DeRavin S, et al. Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. J Allergy Clin Immunol 2011; 127(6):1319-26.
7. Winkelstein JA, Marino MC, Johnston RB, Jr., Boyle J, Curnutte J, Gallin JI, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine 2000; 79(3):155-69.
8. De Ravin SS, Naumann N, Robinson MR, Barron KS, Kleiner DE, Ulrick J, et al. Sarcoidosis in chronic granulomatous disease. Pediatrics 2006; 117(3):e590-5.
9. 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.
10. Rosenzweig SD. Inflammatory manifestations in chronic granulomatous disease (CGD). J Clin Immunol 2008; (28 Suppl 1):S67-72.
11. Cale CM, Morton L, Goldblatt D. Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology. Clin Exp Immunol 2007; 148(1):79-84.
12. Cordoba-Guijarro S, Feal C, Dauden E, Fraga J, Garcia-Diez A. Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease. J Eur Acad Dermatol Venereol 2000; 14(5):409-11.
13. Foti C, Cassano N, Martire B, Filotico R, Mastrandrea V, Vena GA. Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: a case report and personal considerations. Int J Dermatol 2004; 43(11):840-2.
14. Rupec RA, Petropoulou T, Belohradsky BH, Walchner M, Liese JG, Plewing G, et al. Lupus erythematosus tumidus and chronic discoid lupus erythematosus in carriers of X-linked chronic granulomatous disease. Eur J Dermatol 2000; 10(3):184-9.
15. Sillevis Smitt JH, Wulffraat NM, Kuijpers TW. The skin in primary immunodeficiency disorders. Eur J Dermatol 2005; 15(6):425-32.
16. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997; 40(9):1725.
17. Tajik S, Badalzadeh M, Fazlollahi MR, Houshmand M, Bazargan N, Movahedi M, et al. Genetic and Molecular Findings of 38 Iranian Patients with Chronic Granulomatous Disease Caused by p47-phox defect. Scandinavian journal of immunology 2019:e12767.
18. Badalzadeh M, Fattahi F, Fazlollahi MR, Tajik S, Bemanian MH, Behmanesh F, et al. Molecular analysis of four cases of chronic granulomatous disease caused by defects in NCF-2: the gene encoding the p67-phox. Iran J Allergy Asthma Immunol 2012; 11(4):340-4.
19. Badalzadeh M, Tajik S, Fazlollahi M, Houshmand M, Fattahi F, Alizadeh Z, et al. Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease. Int J Immunogenet 2017; 44(6):314-21.
20. Brown JR, Goldblatt D, Buddle J, Morton L, Thrasher AJ. Diminished production of anti-inflammatory mediators during neutrophil apoptosis and macrophage phagocytosis in chronic granulomatous disease (CGD). J Leukoc Biol 2003; 73(5):591-9.
21. Xie C, Cole T, McLean C, Su JC. Association Between Discoid Lupus Erythematosus and Chronic Granulomatous Disease—Report of Two Cases and Review of the Literature. Pediatr Dermatol 2016; 33(2):e114-20.
22. Stalder JF, Dreno B, Bureau B, Hakim J. Discoid lupus erythematosus-like lesions in an autosomal form of chronic granulomatous disease. Br J Dermatol 1986; 114(2):251-4.
23. Strate M, Brandrup F, Wang P. Discoid lupus erythematosus‐like skin lesions in a patient with autosomal recessive chronic granulomatous disease. Clin Genet. 1986; 30(3):184-90.
24 Magnani A, Brosselin P, Beaute J, de Vergnes N, Mouy R, Debre M, et al. Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. J Allergy Clin Immunol 2014; 134(3):655-62.
25. Sanford AN, Suriano AR, Herche D, Dietzmann K, Sullivan KE. Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus. Rheumatology 2006; 45(2):178-81.
26. Pessach IM. The relationship of x-linked primary immune deficiencies and autoimmunity. Curr Allergy Asthma Rep 2010; 10(5):311-9.
27. Lood C, Blanco LP, Purmalek MM, Carmona-Rivera C, De Ravin SS, Smith CK, et al. Neutrophil extracellular traps enriched in oxidized mitochondrial DNA are interferogenic and contribute to lupus-like disease. Nat Med 2016; 22(2):146-53.
28. Movahedi M, Aghamohammadi A, Rezaei N, Shahnavaz N, Jandaghi AB, Farhoudi A, et al. Chronic granulomatous disease: a clinical survey of 41 patients from the Iranian primary immunodeficiency registry. Int Arch Allergy Immunol 2004; 134(3):253-9.
29. Cale C, Morton L, Goldblatt D. Cutaneous and other lupus‐like symptoms in carriers of X‐linked chronic granulomatous disease: incidence and autoimmune serology. Clin Exp Immunol 2007; 148(1):79-84.
30. Turegano MM, Lee C-CR, Malech HL, De Ravin SS, Cowen EW, Brownell I. Recurrent erythematous plaques on sun-exposed sites in an African American boy with chronic granulomatous disease. J Am Acad Dermatol 2014; 70(3):576-80.
31. Frisch S, Askari SK, Beaty SR, Burkemper CN. X-linked chronic granulomatous disease with voriconazole-induced photosensitivity/ photoaging reaction. J Drugs Dermatol 2010; 9(5):562-4.
2. 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.
3. 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.
4. Fattahi F, Badalzadeh M, Sedighipour L, Movahedi M, Fazlollahi MR, Mansouri SD, et al. Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease. J Clin Immunol 2011; 31(5):792-801.
5. Tajik S, Badalzadeh M, Fazlollahi MR, Houshmand M, Zandieh F, Khandan S, et al. A Novel CYBB Mutation in Chronic Granulomatous Disease in Iran. Iran J Allergy Asthma Immunol 2016; 15(5):426-9.
6. Kang EM, Marciano BE, DeRavin S, et al. Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. J Allergy Clin Immunol 2011; 127(6):1319-26.
7. Winkelstein JA, Marino MC, Johnston RB, Jr., Boyle J, Curnutte J, Gallin JI, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine 2000; 79(3):155-69.
8. De Ravin SS, Naumann N, Robinson MR, Barron KS, Kleiner DE, Ulrick J, et al. Sarcoidosis in chronic granulomatous disease. Pediatrics 2006; 117(3):e590-5.
9. 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.
10. Rosenzweig SD. Inflammatory manifestations in chronic granulomatous disease (CGD). J Clin Immunol 2008; (28 Suppl 1):S67-72.
11. Cale CM, Morton L, Goldblatt D. Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology. Clin Exp Immunol 2007; 148(1):79-84.
12. Cordoba-Guijarro S, Feal C, Dauden E, Fraga J, Garcia-Diez A. Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease. J Eur Acad Dermatol Venereol 2000; 14(5):409-11.
13. Foti C, Cassano N, Martire B, Filotico R, Mastrandrea V, Vena GA. Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: a case report and personal considerations. Int J Dermatol 2004; 43(11):840-2.
14. Rupec RA, Petropoulou T, Belohradsky BH, Walchner M, Liese JG, Plewing G, et al. Lupus erythematosus tumidus and chronic discoid lupus erythematosus in carriers of X-linked chronic granulomatous disease. Eur J Dermatol 2000; 10(3):184-9.
15. Sillevis Smitt JH, Wulffraat NM, Kuijpers TW. The skin in primary immunodeficiency disorders. Eur J Dermatol 2005; 15(6):425-32.
16. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997; 40(9):1725.
17. Tajik S, Badalzadeh M, Fazlollahi MR, Houshmand M, Bazargan N, Movahedi M, et al. Genetic and Molecular Findings of 38 Iranian Patients with Chronic Granulomatous Disease Caused by p47-phox defect. Scandinavian journal of immunology 2019:e12767.
18. Badalzadeh M, Fattahi F, Fazlollahi MR, Tajik S, Bemanian MH, Behmanesh F, et al. Molecular analysis of four cases of chronic granulomatous disease caused by defects in NCF-2: the gene encoding the p67-phox. Iran J Allergy Asthma Immunol 2012; 11(4):340-4.
19. Badalzadeh M, Tajik S, Fazlollahi M, Houshmand M, Fattahi F, Alizadeh Z, et al. Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease. Int J Immunogenet 2017; 44(6):314-21.
20. Brown JR, Goldblatt D, Buddle J, Morton L, Thrasher AJ. Diminished production of anti-inflammatory mediators during neutrophil apoptosis and macrophage phagocytosis in chronic granulomatous disease (CGD). J Leukoc Biol 2003; 73(5):591-9.
21. Xie C, Cole T, McLean C, Su JC. Association Between Discoid Lupus Erythematosus and Chronic Granulomatous Disease—Report of Two Cases and Review of the Literature. Pediatr Dermatol 2016; 33(2):e114-20.
22. Stalder JF, Dreno B, Bureau B, Hakim J. Discoid lupus erythematosus-like lesions in an autosomal form of chronic granulomatous disease. Br J Dermatol 1986; 114(2):251-4.
23. Strate M, Brandrup F, Wang P. Discoid lupus erythematosus‐like skin lesions in a patient with autosomal recessive chronic granulomatous disease. Clin Genet. 1986; 30(3):184-90.
24 Magnani A, Brosselin P, Beaute J, de Vergnes N, Mouy R, Debre M, et al. Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. J Allergy Clin Immunol 2014; 134(3):655-62.
25. Sanford AN, Suriano AR, Herche D, Dietzmann K, Sullivan KE. Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus. Rheumatology 2006; 45(2):178-81.
26. Pessach IM. The relationship of x-linked primary immune deficiencies and autoimmunity. Curr Allergy Asthma Rep 2010; 10(5):311-9.
27. Lood C, Blanco LP, Purmalek MM, Carmona-Rivera C, De Ravin SS, Smith CK, et al. Neutrophil extracellular traps enriched in oxidized mitochondrial DNA are interferogenic and contribute to lupus-like disease. Nat Med 2016; 22(2):146-53.
28. Movahedi M, Aghamohammadi A, Rezaei N, Shahnavaz N, Jandaghi AB, Farhoudi A, et al. Chronic granulomatous disease: a clinical survey of 41 patients from the Iranian primary immunodeficiency registry. Int Arch Allergy Immunol 2004; 134(3):253-9.
29. Cale C, Morton L, Goldblatt D. Cutaneous and other lupus‐like symptoms in carriers of X‐linked chronic granulomatous disease: incidence and autoimmune serology. Clin Exp Immunol 2007; 148(1):79-84.
30. Turegano MM, Lee C-CR, Malech HL, De Ravin SS, Cowen EW, Brownell I. Recurrent erythematous plaques on sun-exposed sites in an African American boy with chronic granulomatous disease. J Am Acad Dermatol 2014; 70(3):576-80.
31. Frisch S, Askari SK, Beaty SR, Burkemper CN. X-linked chronic granulomatous disease with voriconazole-induced photosensitivity/ photoaging reaction. J Drugs Dermatol 2010; 9(5):562-4.
| Files | ||
| Issue | Vol 18, No 4 (2019) | |
| Section | Case Series | |
| DOI | https://doi.org/10.18502/ijaai.v18i4.1426 | |
| PMID | 31522454 | |
| Keywords | ||
| Chronic Cutaneous Granulomatous disease Iran Lupus erythematosus Rare diseases | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Maddah M, Fazlollahi MR, Shiari R, Shahram F, Mamishi S, Babaie D, Monajemzadeh M, Sotudeh S, Hamidieh AA, Badalzadeh M, Tajik S, Sedighipour L, Pourpak Z. Lupus Erythematosus and Chronic Granulomatous Disease: Report of Four Iranian Patients with AR-CGD and One XL-CGD. Iran J Allergy Asthma Immunol. 2019;18(4):452-458.
