Diagnosis of primary antibody and complement deficiencies in young adults after a first invasive bacterial infection

Sangès, S.; Wallet, Florent; Blondiaux, Nicolas; Theis, D.; Verin, I.; Vachée, Anne; Dessein, Rodrigue; Faure, Karine; Viget, N.; Senneville, É.; Leroy, Olivier; Maury, Frédéric; Just, N.; Poissy, Julien; Mathieu, Daniel; Prévotat, A.; Chenivesse, Cécile; Scherpereel, Arnaud; Smith, George Van S.; López, Benjamín; Rosain, Jérémie; Frémeaux‐Bacchi, Véronique; Hachulla, É.; Hatron, Pierre‐Yves; Bahuaud, Mathilde; Batteux, Frédéric; Launay, David; Labalette, Myriam; Lefèvre, Guillaume

doi:10.1016/j.cmi.2017.02.005

Cited by 25 publications

(11 citation statements)

References 14 publications

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“…The average age of onset of meningococcal meningitis in patients with C7 deficiency was 17 years [ 4 ]. When meningitis due to N. meningitidis or N. gonorrhoeae develops after puberty in young adults, complement protein testing should be performed with a suspicion for complement deficiency [ 7 ]. It is important to implement proper vaccination to prevent serious Neisseria infections in patients with complement deficiency.…”

Section: Discussionmentioning

confidence: 99%

Recurrent infections caused by different species of Neisseria bacteria in a patient with complement seven deficiency

et al. 2021

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Section: Discussionmentioning

confidence: 99%

Recurrent infections caused by different species of Neisseria bacteria in a patient with complement seven deficiency

et al. 2021

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“…Our report corresponds with other studies. In one study of 22 adult patients who previously experienced a single event of meningococcal meningitis, 2 were diagnosed with C6 and C7 de ciencies [3]. In South Africa, 12.8% of patients with invasive meningococcal infections have been found to have C5 and C6 de ciencies [15].…”

Section: Discussionmentioning

confidence: 99%

“…This facilitates the treatment of susceptible patients with prophylactic antibiotics and meningococcal vaccination, reducing the risk of future invasive meningococcal infections. However, the diagnosis of complement de ciencies requires a high index of suspicion, especially when treating patients with a single infectious episode [3]. Such patients are often underdiagnosed and untreated until the next episode of meningitis or meningococcemia [4].…”

Section: Introductionmentioning

confidence: 99%

Whole Exome Sequencing as a Diagnostic Tool of Primary Complement Component Deficiencies: A Multicenter Experience of Three Novel Mutations

Shamriz

Simon

Frizinsky

et al. 2021

Preprint

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Diagnosis of primary complement deficiencies requires a high index of suspicion. Thus, susceptible patients are often underdiagnosed and untreated. Here, we present a multi-center experience with three novel inborn errors of the classical complement system. This is a retrospective multicenter analysis of computerized medical records of children (> 18 years) admitted in the period between 2003 and 2018 at Shaare Zedek Medical Center in Jerusalem and Edmond and Lily Safra Children's Hospital, Tel-Hashomer Medical Center, in Ramat Gan, Israel. Patients were genetically diagnosed by a complimentary immune work-up. We identified 5 patients (3 males) from four different consanguineous families harboring three novel mutations in the complement components C6-C8. Genetic mutations were identified by whole exome sequencing. Clinical manifestations consisted of meningitis with or without meningococcemia. The immune work-up demonstrated nearly absent levels of CH50, compatible with a complement pathway defect. The mean diagnosis delay was 10.56 (0–30) years. Conclusion: Invasive meningococcal infections may be life-threatening and cause severe neurological sequela. Awareness of risk factors for primary complement deficiencies, even at the firs infectious episode, should facilitate prompt immune and genetic investigations, commencing diagnosis and proper treatment.

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“…Primary immunodeficiency (PID) is a type of genetic predisposition which refers to genetic variations associated with disabled or absent functions of the immune system [ 61 , 62 ]. Patients with certain PIDs present with an increased susceptibility to EBV-associated diseases due to the lack of sufficient immune surveillance.…”

Section: Role Of Lytic Replication For Ebv Infection Immune Control and Oncogenesismentioning

confidence: 99%

Roles of Lytic Viral Replication and Co-Infections in the Oncogenesis and Immune Control of the Epstein–Barr Virus

Deng

Münz

2021

Cancers

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Epstein–Barr virus (EBV) is the prototypic human tumor virus whose continuous lifelong immune control is required to prevent lymphomagenesis in the more than 90% of the human adult population that are healthy carriers of the virus. Here, we review recent evidence that this immune control has not only to target latent oncogenes, but also lytic replication of EBV. Furthermore, genetic variations identify the molecular machinery of cytotoxic lymphocytes as essential for this immune control and recent studies in mice with reconstituted human immune system components (humanized mice) have begun to provide insights into the mechanistic role of these molecules during EBV infection. Finally, EBV often does not act in isolation to cause disease. Some of EBV infection-modulating co-infections, including human immunodeficiency virus (HIV) and Kaposi sarcoma-associated herpesvirus (KSHV), have been modeled in humanized mice. These preclinical in vivo models for EBV infection, lymphomagenesis, and cell-mediated immune control do not only promise a better understanding of the biology of this human tumor virus, but also the possibility to explore vaccine candidates against it.

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Diagnosis of primary antibody and complement deficiencies in young adults after a first invasive bacterial infection

Abstract: PID screening should be considered after a first unexplained invasive encapsulated-bacterial infection in young adults.

Cited by 25 publications

References 14 publications

Recurrent infections caused by different species of Neisseria bacteria in a patient with complement seven deficiency

Recurrent infections caused by different species of Neisseria bacteria in a patient with complement seven deficiency

Whole Exome Sequencing as a Diagnostic Tool of Primary Complement Component Deficiencies: A Multicenter Experience of Three Novel Mutations

Roles of Lytic Viral Replication and Co-Infections in the Oncogenesis and Immune Control of the Epstein–Barr Virus

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