C5 Complement Deficiency in a Saudi Family, Molecular Characterization of Mutation and Literature Review

Introduction Complement deficiencies are rare primary immunodeficiency disorders, the diagnosis of which is often underestimated. Only a small number of molecular studies have been carried out for the characterization of the underlying genetic defects in these cases. Purpose Reporting the first fami...

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Published in:	Journal of clinical immunology Vol. 33; no. 4; pp. 871 - 875
Main Authors:	Arnaout, Rand, Al Shorbaghi, Sahar, Al Dhekri, Hasan, Al-Mousa, Hamoud, Al Ghonaium, Abdulaziz, Al Saud, Bandar, Al Muhsen, Saleh, Al Baik, Lina, Hawwari, Abbas
Format:	Journal Article
Language:	English
Published:	Boston Springer US 01-05-2013 Springer Nature B.V
Subjects:	Biomedical and Life Sciences Biomedicine Brief Communication Child, Preschool Complement C5 - deficiency Complement C5 - genetics Consanguinity DNA Mutational Analysis Genotype Humans Immunologic Deficiency Syndromes - complications Immunologic Deficiency Syndromes - diagnosis Immunologic Deficiency Syndromes - genetics Immunologic Deficiency Syndromes - immunology Immunology Infectious Diseases Internal Medicine Male Medical Microbiology Meningococcal Infections - diagnosis Meningococcal Infections - etiology Meningococcal Infections - genetics Meningococcal Infections - immunology Neisseria meningitidis - immunology Pedigree Saudi Arabia Sequence Deletion - genetics Structure-Activity Relationship Saudi Arabia mutation complement 5 meningococcal infection Primary immunodeficiency
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Summary:	Introduction Complement deficiencies are rare primary immunodeficiency disorders, the diagnosis of which is often underestimated. Only a small number of molecular studies have been carried out for the characterization of the underlying genetic defects in these cases. Purpose Reporting the first family from the Arabian Gulf region with multiple members affected by meningococcemia and abscent serum complement 5 (C5). We tried to correlate clinical, biochemical and molecular genetics features of this family. Methods Determination of the serum level of all complement proteins including the terminal cascade (C5-9), followed by mutation analysis on DNA extracted from fresh blood samples of each alive family member. Results Molecular studies showed a homozygous nonsense mutation in exon 1, with the change of cytosine to thymine at position 55 (55C > T) leading to change of the glutamine amino acid at position 19 to a stop codon (Q19X), and serologically absence of C5 in the serum. A similar but compound heterozygous mutation has been reported in one African–American family. previously. Conclusion Characterization of the underlying mutations in C5 deficient families is important, to understand this uncommon complement deficiency, and try to elucidate structure–function relationships in the C5 gene. This report also highlights the importance of complement screening in cases of sporadic meningococcal Infections, especially in communities with high prevalence of consanguineous marriages, which will ensure timely and adequate clinical interventions.
ISSN:	0271-9142 1573-2592
DOI:	10.1007/s10875-013-9872-7