Severe Bacterial Infections
Conditions
Keywords
Severe bacterial infections, Whole-exome sequencing, Inborn errors of immunity, pediatrics
Brief summary
Severe bacterial infections (SBI) are responsible for significant morbidity and mortality in the paediatric population. There is considerable individual variability in children's susceptibility to developing SBIs. This variability is multifactorial, and the mechanisms at work are not yet fully understood. The investigators of this study therefore propose to study a population of children who had particularly severe bacterial infections requiring hospitalization in a pediatric intensive care unit in France between 2015 and 2018. This study is part of a global approach to understanding the mechanisms favoring the occurrence of IBS in pediatrics. The study will initially focus on analyzing the clinical phenotype of these children in terms of the type of infection presented, as well as immunologically with an immune workup of all these patients. The investigators also plan to contact each family individually to identify other episodes of personal or family IBS or other elements suggestive of immune deficiency (opportunistic infections, autoimmune manifestations, severe atopy). The investigators will also assess the persistent sequelae since their infectious episode, and their quality of life following this IBS. In parallel, the genetic analysis of these patients and their parents will be carried out using whole-exome sequencing. The investigators will compare the results with those obtained in 2 IBS-free control populations (N=70 and N=116). The goal is to identify genetic variants that favor the occurrence of IBS in general, and some that are specific to certain bacteria or clinical presentations.
Interventions
OTHERExtended phenotyping
Extended phenotyping (analysis performed at Nantes University Hospital, MANDATORY DELIVERY WITHIN 24 HOURS) = 1 EDTA 3 mL tube for patients included in Nantes.
OTHERBlood sample for WES
Blood sample for WES : 1 x 3 mL EDTA tube (if not included in DIABACT IV biocollection)
OTHERBlood sample for PBMC freezing
Blood sample for PBMC freezing integrated into the biocollection: 1 EDTA tube = 3 mL
OTHERPOPC score evaluation
Assessment of POPC score (Pediatric Overall Performance Category)
Questionnaires completed by parents or children: * SDQ * PedSQL4.0
Sponsors
Nantes University Hospital
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
For patients: * Patient included in the DIABACT IV study between 2015 and 2018, following hospitalization in a pediatric intensive care unit in France for a severe bacterial infection. * Patient affiliated to a social security system * Patient alive at the time of inclusion. * Written consent from legal representatives for participation in research. If one of the legal representatives is unable to complete/sign the written consent, it will be sought orally by telephone and recorded in the patient's file. If the patient is over 18, written consent will be obtained. If the patient is a minor, consent will be sought with communication adapted to his/her level of understanding and age. For parents: * Patient's biological parents * Written consent
Exclusion criteria
* Persons under court protection * Refusal to participate in research
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identification of innate errors of immunity involved in the development of IBS in pediatrics. | At the enrollment | List of rare genetic variants significantly more frequently found in cases than in controls and/or absent in healthy parents. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Identification of inborn errors of immunity involved in the development of IBS and their association with abnormalities of the immune balance, | At the enrollment | — |
| Identification of rare genetic variants favoring certain clinical types of infection, or certain biological and immunological abnormalities. | At the enrollment | — |
| Identification of immune deficiencies in patients who have developed a severe bacterial infection | At the enrollment | — |
| Assessment of sequelae with the POPC sequelae score (Pediatric Overall Performance Category) at a distance from the IBS episode. | At the enrollment | The POPC sequelae score is a scale from 1 to 6, with 6 being the worst possible outcome. |
| Assessment of sequelae at a distance from the IBS episode with the Strengths and Weaknesses Questionnaire (SDQ-Fra). | At the enrollment | The SDQ-Fra score is a scale from 0 to 2, with 2 being the worst possible outcome. |
| Assessment of quality of life at a distance from the IBS episode. | At the enrollment | Quality of life will be assessed in this patient population using the Pediatric Quality of Life InventoryTM (scale from 0 to 4, with 4 corresponding to the worst outcome). |
Countries
France
Contacts
CONTACTElise LAUNAY
CONTACTSponsor Department
Outcome results
None listed