First Report of Clinical, Functional, and Molecular Investigation of Chronic Granulomatous Disease in Nine Jordanian Families

Overview

Journal J Clin Immunol

Publisher Springer

Specialty Allergy & Immunology

Date 2008 Sep 6

PMID 18773283

Citations 17

Authors

Faris G Bakri

Cecile Martel

Najwa Khuri-Bulos

Azmi Mahafzah

Mohammad S El-Khateeb

Adel M Al-Wahadneh

Wail A Hayajneh

Hanan A Hamamy

Elisabeth Maquet

Michelle Molin

Marie Jose Stasia

Affiliations

Soon will be listed here.

Abstract

Introduction: Chronic granulomatous disease is a rare inherited immunodeficiency syndrome caused by mutations in four genes encoding essential nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex components.

Material And Methods: Clinical, functional, and molecular investigations were conducted in 15 Jordanian CGD patients from nine families.

Results And Discussion: Fourteen patients were children of consanguineous parents and suffered from autosomal recessive (AR) CGD forms with mutations in the CYBA, NCF1, and NCF2 genes encoding p22phox, p47phox, and p67phox proteins, except for one patient in whom the mutation's location was not found. One patient had an extremely rare X(+)CGD subtype resulting from a novel missense mutation (G1234C) in exon 10 of CYBB. We found a genetic heterogeneity in the Jordanian families with a high frequency of rare ARCGD, probably because consanguineous marriages are common in Jordan. No clear correlation between the severity of the clinical symptoms and the CGD types could be established.

Citing Articles

Tuberculosis and Bacillus Calmette-Guérin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India.

Vignesh P, Sil A, Aggarwal R, Laha W, Mondal S, Dhaliwal M J Clin Immunol. 2023; 43(8):2049-2061.

PMID: 37721651 DOI: 10.1007/s10875-023-01581-w.

Variant Type X91 Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.

Sun B, Zhu Z, Hui X, Sun J, Wang W, Ying W J Clin Immunol. 2022; 42(7):1564-1579.

PMID: 35796921 PMC: 9674757. DOI: 10.1007/s10875-022-01324-3.

Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.

Bakri F, Mollin M, Beaumel S, Vigne B, Roux-Buisson N, Al-Wahadneh A Front Immunol. 2021; 12:639226.

PMID: 33746979 PMC: 7973097. DOI: 10.3389/fimmu.2021.639226.

A novel mutation in induced X-linked chronic granulomatous disease: A case report.

Xu X, Lu B, Xie Y, Yang D, Lu G, Fan H Respir Med Case Rep. 2020; 31:101213.

PMID: 32963958 PMC: 7490557. DOI: 10.1016/j.rmcr.2020.101213.

Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.

Mollin M, Beaumel S, Vigne B, Brault J, Roux-Buisson N, Rendu J Clin Exp Immunol. 2020; 203(2):247-266.

PMID: 32954498 PMC: 7806450. DOI: 10.1111/cei.13520.

References

Morel F, Doussiere J, Stasia M, Vignais P . The respiratory burst of bovine neutrophils. Role of a b type cytochrome and coenzyme specificity. Eur J Biochem. 1985; 152(3):669-79. DOI: 10.1111/j.1432-1033.1985.tb09247.x. View

de Boer M, Singh V, Dekker J, Di Rocco M, Goldblatt D, Roos D . Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1. Prenat Diagn. 2002; 22(3):235-40. DOI: 10.1002/pd.296. View

Verhoeven A, Bolscher B, Meerhof L, van Zwieten R, Keijer J, Weening R . Characterization of two monoclonal antibodies against cytochrome b558 of human neutrophils. Blood. 1989; 73(6):1686-94. View

Stasia M, Lardy B, Maturana A, Rousseau P, Martel C, Bordigoni P . Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail. Biochim Biophys Acta. 2002; 1586(3):316-30. DOI: 10.1016/s0925-4439(01)00110-7. View

El Kares R, Barbouche M, Elloumi-ZghaL H, Bejaoui M, Chemli J, Mellouli F . Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia. J Hum Genet. 2006; 51(10):887-895. DOI: 10.1007/s10038-006-0039-8. View

Dinauer M, Pierce E, BRUNS G, Curnutte J, Orkin S . Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. J Clin Invest. 1990; 86(5):1729-37. PMC: 296926. DOI: 10.1172/JCI114898. View

Noack D, RAE J, Cross A, Ellis B, Newburger P, Curnutte J . Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. Blood. 2001; 97(1):305-11. DOI: 10.1182/blood.v97.1.305. View

Leusen J, Meischl C, Eppink M, Hilarius P, de Boer M, Weening R . Four novel mutations in the gene encoding gp91-phox of human NADPH oxidase: consequences for oxidase assembly. Blood. 2000; 95(2):666-73. View

Stasia M, Li X . Genetics and immunopathology of chronic granulomatous disease. Semin Immunopathol. 2008; 30(3):209-35. DOI: 10.1007/s00281-008-0121-8. View

10.

Dekker J, de Boer M, Roos D . Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease. Exp Hematol. 2001; 29(11):1319-25. DOI: 10.1016/s0301-472x(01)00731-7. View

11.

Roos D, de Boer M, Koker M, Dekker J, Singh-Gupta V, Ahlin A . Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase. Hum Mutat. 2006; 27(12):1218-29. DOI: 10.1002/humu.20413. View

12.

Towbin H, Staehelin T, Gordon J . Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc Natl Acad Sci U S A. 1979; 76(9):4350-4. PMC: 411572. DOI: 10.1073/pnas.76.9.4350. View

13.

Ishibashi F, Nunoi H, Endo F, Matsuda I, Kanegasaki S . Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. Hum Genet. 2000; 106(5):473-81. DOI: 10.1007/s004390000288. View

14.

Li X, Grunwald D, Mathieu J, Morel F, Stasia M . Crucial role of two potential cytosolic regions of Nox2, 191TSSTKTIRRS200 and 484DESQANHFAVHHDEEKD500, on NADPH oxidase activation. J Biol Chem. 2005; 280(15):14962-73. DOI: 10.1074/jbc.M500226200. View

15.

Hamamy H, Masri A, Al-Hadidy A, Ajlouni K . Consanguinity and genetic disorders. Profile from Jordan. Saudi Med J. 2007; 28(7):1015-7. View

16.

Bionda C, Li X, van Bruggen R, Eppink M, Roos D, Morel F . Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells. Hum Genet. 2004; 115(5):418-27. DOI: 10.1007/s00439-004-1173-z. View

17.

Yu L, Cross A, Zhen L, Dinauer M . Functional analysis of NADPH oxidase in granulocytic cells expressing a delta488-497 gp91(phox) deletion mutant. Blood. 1999; 94(7):2497-504. View

18.

Li X, Fieschi F, Paclet M, Grunwald D, Campion Y, Gaudin P . Leu505 of Nox2 is crucial for optimal p67phox-dependent activation of the flavocytochrome b558 during phagocytic NADPH oxidase assembly. J Leukoc Biol. 2006; 81(1):238-49. DOI: 10.1189/jlb.0905541. View

19.

Stasia M . [The X+ chronic granulomatous disease as a fabulous model to study the NADPH oxidase complex activation]. Med Sci (Paris). 2007; 23(5):526-32. DOI: 10.1051/medsci/2007235526. View

20.

Segal B, Leto T, Gallin J, Malech H, Holland S . Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). 2000; 79(3):170-200. DOI: 10.1097/00005792-200005000-00004. View