Study of Gut Microbiota in Primary Immune Deficiency, Possibly Associated With Inflammatory Bowel Disease

Study Overview
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Brief Summary
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Some Primary Immune Deficiencies can be associated with an inflammatory bowel disease, mimicking Crohn disease : the Chronic Granulomatous Disease (CGD), the XIAP deficiency, and the TTC7A deficiency. This inflammatory bowel disease is frequent but inconstant, raising questions about other factors contributing to the disease. The aim of our study is to analyze, describe and compare the gut microbiota of patients with those primary immune deficiency, with or without intestinal disease. The investigators can expect, in the long term, to compare on a same patient, the gut microbiota evolution, and to assess the role of gut microbiota modifications on the onset of an inflammatory bowel disease.

Detailed Description
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The investigators will include patients (adults or children), with Primary Immune Deficiency (CGD, XIAP or TTC7A deficiencies), and they will collect feces samples from them. In parallel, as control groups, patients with no inflammatory bowel disease and no primary immune deficiency will be included, and also patients suffering from Crohn's disease without known primary immune deficiency. The laboratory collaborators will then realize analyzes on the microbiota collected for all patients. The study team will then analyze the microbiota composition of the different types of patients, and try to identify some factors, associated with the appearance of an inflammatory disease on these patients.

Official Title
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Study of Gut Microbiota in Primary Immune Deficiencies, Possibly Associated With Inflammatory Bowel Disease (Chronic Granulomatous Disease, XIAP Gene Deficiency, or TTC7A Gene Deficiency)

Conditions
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Primary Immune Deficiencies

Intervention / Treatment
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* Biological: Biological sampling


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria (Patients with one of the 3 specific PID mentioned above): Presenting a Primary Immune Deficiency (CGD, XIAP ou TTC7A deficiency) with or without inflammatory digestive disease Inclusion Criteria (Control patients without one of the 3 specific PID mentioned above): No antibiotic treatment in the month preceding the inclusion Exclusion Criteria (all patients): Patients having a received a gene therapy or a Hematopoietic stem cell transplantation
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with PID<br>Biological sampling: collection of feces. In case of blood samples availability in hospital biobank : analyzes of these samples in the frame of this research | Biological: Biological sampling<br>* Biological sampling<br>|
| Control patients, with no PID<br>Biological sampling: collection of feces. | Biological: Biological sampling<br>* Biological sampling<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of factors associated with the onset of an inflammatory colitis in patients with three Primary Immuno-Deficiencies, identified in the study population |  | 3 years and 8 months |