The Risk of the Next Child Getting Affected by Chronic Granulomatous Disease in Families with at Least One Autosomal Recessive CGD Child
-
Seyedeh Zalfa Modarresi
,
Shagayegh Tajik
,
Mohsen Badalzadeh
,
Mohammad Reza Fazlollahi
,
Massoud Houshmand
,
Marzieh Maddah
,
Zahra Alizadeh
,
Mohammad Nabavi
,
Nasrin Bazargan
,
Masoud Movahedi
,
Zahra Pourpak
Abstract
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder more common in autosomal recessive (AR) than X-linked in Iran.
This study aimed to assess whether having a child with AR-CGD would increase the likelihood of the next child being affected by CGD.
Ninety-one families with at least one child affected by AR-CGD entered this study. Out of the 270 children, 128 were affected by AR-CGD. We used a cross tab for the odds ratio (OR) calculation, in which exposure to a previously affected child and the next child’s status were evaluated. This study illustrated that the chances of having another child afflicted with AR-CGD are significantly increased if the previous child had AR-CGD (OR=2.77, 95% CI=1.35-5.69).Althoug
h AR disorders affect 25% of each pregnancy, we showed that the chance that the next child would be affected by CGD, given that the previous child was affected, is 2.77 times greater than in families with a normal child. It is recommended to warn families with one or more affected children to evaluate the risk of CGD in their subsequent pregnancies with prenatal diagnosis.
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12. Prando-Andrade C, Agudelo-Florez P, Lopez JA, Paiva MA, Costa-Carvalho BT, Condino-Neto A. [Autosomal chronic granulomatous disease: case report and mutation analysis of two Brazilian siblings]. J Pediatr (Rio J). 2004;80(5):425-8.
13. Ayatollahi M, Tabei Z, Ramzi M, Kashef S, Haghshenas M. A fast and easy nitroblue tetrazolium method for carrier screening and prenatal detection of chronic granulomatous disease. Arch Iran Med. 2006;9(4):335-8.
14. Elgefors B, Olling S, Peterson H. Chronic granulomatous disease in three siblings. Scand J Infect Dis. 1978;10(1):79-85.
15. Rezaei N, Pourpak Z, Aghamohammadi A, Farhoudi A, Movahedi M, Gharagozlou M, et al. Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. Am J Reprod Immunol. 2006;56(2):145-51.
16. Teeuw ME, Henneman L, Bochdanovits Z, Heutink P, Kuik DJ, Cornel MC, et al. Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study. BMC Med Genet. 2010;11:113.
17. Rawat A, Vignesh P, Sudhakar M, Sharma M, Suri D, Jindal A, et al. Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India. Front Immunol. 2021;12:625320.
18. Oikonomopoulou Z, Shulman S, Mets M, Katz B. Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features. J Clin Immunol. 2022.
2. Yu HH, Yang YH, Chiang BL. Chronic Granulomatous Disease: a Comprehensive Review. Clin Rev Allergy Immunol. 2021;61(2):101-13.
3. Yu JE, Azar AE, Chong HJ, Jongco AM, 3rd, Prince BT. Considerations in the Diagnosis of Chronic Granulomatous Disease. J Pediatric Infect Dis Soc. 2018;7(suppl_1):S6-s11.
4. Arnold DE, Heimall JR. A Review of Chronic Granulomatous Disease. Adv Ther. 2017;34(12):2543-57.
5. Bittles AH, Black ML. Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A. 2010;107 Suppl 1(Suppl 1):1779-86.
6. Bittles A. Consanguinity and its relevance to clinical genetics. Clin Genet. 2001;60(2):89-98.
7. 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.
8. Hosseini-Chavoshi M, Abbasi-Shavazi MJ, Bittles AH. Consanguineous marriage, reproductive behaviour and postnatal mortality in contemporary Iran. Hum Hered. 2014;77(1-4):16-25.
9. Al-Zadjali S, Al-Tamemi S, Elnour I, AlKindi S, Lapoumeroulie C, Al-Maamari S, et al. Clinical and molecular findings of chronic granulomatous disease in Oman: family studies. Clin Genet. 2015;87(2):185-9.
10. Köker MY, Camcıoğlu Y, van Leeuwen K, Kılıç S, Barlan I, Yılmaz M, et al. Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. J Allergy Clin Immunol. 2013;132(5):1156-63.e5.
11. Köker MY, van Leeuwen K, de Boer M, Celmeli F, Metin A, Ozgür TT, et al. Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease. Eur J Clin Invest. 2009;39(4):311-9.
12. Prando-Andrade C, Agudelo-Florez P, Lopez JA, Paiva MA, Costa-Carvalho BT, Condino-Neto A. [Autosomal chronic granulomatous disease: case report and mutation analysis of two Brazilian siblings]. J Pediatr (Rio J). 2004;80(5):425-8.
13. Ayatollahi M, Tabei Z, Ramzi M, Kashef S, Haghshenas M. A fast and easy nitroblue tetrazolium method for carrier screening and prenatal detection of chronic granulomatous disease. Arch Iran Med. 2006;9(4):335-8.
14. Elgefors B, Olling S, Peterson H. Chronic granulomatous disease in three siblings. Scand J Infect Dis. 1978;10(1):79-85.
15. Rezaei N, Pourpak Z, Aghamohammadi A, Farhoudi A, Movahedi M, Gharagozlou M, et al. Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. Am J Reprod Immunol. 2006;56(2):145-51.
16. Teeuw ME, Henneman L, Bochdanovits Z, Heutink P, Kuik DJ, Cornel MC, et al. Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study. BMC Med Genet. 2010;11:113.
17. Rawat A, Vignesh P, Sudhakar M, Sharma M, Suri D, Jindal A, et al. Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India. Front Immunol. 2021;12:625320.
18. Oikonomopoulou Z, Shulman S, Mets M, Katz B. Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features. J Clin Immunol. 2022.
| Files | ||
| Issue | Vol 22 No 1 (2023) | |
| Section | Brief Communication | |
| DOI | https://doi.org/10.18502/ijaai.v22i1.12014 | |
| Keywords | ||
| Autosomal recessive Chronic granulomatous disease Parental consanguinity Siblings | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Modarresi SZ, Tajik S, Badalzadeh M, Fazlollahi MR, Houshmand M, Maddah M, Alizadeh Z, Nabavi M, Bazargan N, Movahedi M, Pourpak Z. The Risk of the Next Child Getting Affected by Chronic Granulomatous Disease in Families with at Least One Autosomal Recessive CGD Child. Iran J Allergy Asthma Immunol. 2023;22(1):119-123.
