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The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up

INTRODUCTION: Neisseria meningitidis is a significant cause of bacterial meningitis and septicemia worldwide. Recurrent Neisseria meningitidis is frequently associated with terminal complement protein deficiency, including Complement component 7. This report discusses the first case of C7 deficiency...

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Autores principales: Khalil, Sally Mahgoub, Aqel, Sami, Mudawi, Dalal Sideeg, Mobayed, Hassan, Al-Nesf, Maryam Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10598862/
https://www.ncbi.nlm.nih.gov/pubmed/37885879
http://dx.doi.org/10.3389/fimmu.2023.1253301
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author Khalil, Sally Mahgoub
Aqel, Sami
Mudawi, Dalal Sideeg
Mobayed, Hassan
Al-Nesf, Maryam Ali
author_facet Khalil, Sally Mahgoub
Aqel, Sami
Mudawi, Dalal Sideeg
Mobayed, Hassan
Al-Nesf, Maryam Ali
author_sort Khalil, Sally Mahgoub
collection PubMed
description INTRODUCTION: Neisseria meningitidis is a significant cause of bacterial meningitis and septicemia worldwide. Recurrent Neisseria meningitidis is frequently associated with terminal complement protein deficiency, including Complement component 7. This report discusses the first case of C7 deficiency in Qatar. CASE REPORT: A 30-year-old Qatari man presented with a meningococcal infection, which was verified by a blood culture. He experienced two episodes of meningitis caused by an undetermined organism. His blood tests revealed low levels of CH50 and C7. His C7 gene testing revealed a homozygous mutation in exon 10 (c.1135G>C p.Gly379Arg), a mutation that has not been previously documented in Qatar. However, it has been observed in 1% of Moroccan-origin Israeli Jews who also exhibit C7 deficiency. Regular prophylactic quadrivalent vaccinations against types A, C, Y, and W-135 with azithromycin tabs were administered. Over the last 10 years of follow-up, he remained in good health, with no further meningitis episodes. CONCLUSION: To our knowledge, this is the first confirmed case of C7 deficiency reported in the Arabian Gulf countries. Such rare diseases should be a public health priority. Awareness among medical practitioners and the community should help with early detection of C7 deficiency and the prevention of its consequences.
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spelling pubmed-105988622023-10-26 The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up Khalil, Sally Mahgoub Aqel, Sami Mudawi, Dalal Sideeg Mobayed, Hassan Al-Nesf, Maryam Ali Front Immunol Immunology INTRODUCTION: Neisseria meningitidis is a significant cause of bacterial meningitis and septicemia worldwide. Recurrent Neisseria meningitidis is frequently associated with terminal complement protein deficiency, including Complement component 7. This report discusses the first case of C7 deficiency in Qatar. CASE REPORT: A 30-year-old Qatari man presented with a meningococcal infection, which was verified by a blood culture. He experienced two episodes of meningitis caused by an undetermined organism. His blood tests revealed low levels of CH50 and C7. His C7 gene testing revealed a homozygous mutation in exon 10 (c.1135G>C p.Gly379Arg), a mutation that has not been previously documented in Qatar. However, it has been observed in 1% of Moroccan-origin Israeli Jews who also exhibit C7 deficiency. Regular prophylactic quadrivalent vaccinations against types A, C, Y, and W-135 with azithromycin tabs were administered. Over the last 10 years of follow-up, he remained in good health, with no further meningitis episodes. CONCLUSION: To our knowledge, this is the first confirmed case of C7 deficiency reported in the Arabian Gulf countries. Such rare diseases should be a public health priority. Awareness among medical practitioners and the community should help with early detection of C7 deficiency and the prevention of its consequences. Frontiers Media S.A. 2023-10-11 /pmc/articles/PMC10598862/ /pubmed/37885879 http://dx.doi.org/10.3389/fimmu.2023.1253301 Text en Copyright © 2023 Khalil, Aqel, Mudawi, Mobayed and Al-Nesf https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Khalil, Sally Mahgoub
Aqel, Sami
Mudawi, Dalal Sideeg
Mobayed, Hassan
Al-Nesf, Maryam Ali
The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up
title The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up
title_full The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up
title_fullStr The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up
title_full_unstemmed The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up
title_short The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up
title_sort first case report of complement component 7 deficiency in qatar and a 10-year follow-up
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10598862/
https://www.ncbi.nlm.nih.gov/pubmed/37885879
http://dx.doi.org/10.3389/fimmu.2023.1253301
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