GLILD Diagnosed in Children and Young Adults With Common Variable Immunodeficiency

Study Overview
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Brief Summary
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8 to 22% of patients with common variable immunodeficiency (CVID) will develop Granulomatous Lymphocytic Interstitial Lung Disease (GLILD), which has emerged as a major cause of mortality. Little is known about GLILD in children and young adults. The aim of this study was to describe the clinical, functional, radiological and pathological features of children and young adults diagnosed with GLILD.

Detailed Description
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Variable common immunodeficiency (VCID) encompasses a heterogeneous group of primitive immunodeficiencies, with variable clinical and immunological settings, but globally characterized by hypogammaglobulinemia with significant reduction of Immunoglobulin G levels, often associated with a decrease in Immunoglobulin A and/or Immunoglobulin M levels, coupled with inability to produce antibodies in response to infection and/or immunization. VCID is the most common primary immunodeficiency, with an estimated prevalence between 1/10,000 and 1/50,000. With the introduction of high-dose, intravenous or subcutaneous immunoglobulins, number of infections, along with morbidity and induced mortality, has declined sharply in recent years. Conversely, non-infectious complications, such as autoimmune manifestations, inflammatory bowel diseases, enteropathies, hepatitis, lung disease and lymphoproliferation (up to lymphoma), increased considerably, reaching 70% of patients. Granulomatous Lymphocytic Interstitial Lung Disease is a non-infectious complication that can occur during the evolution of VCID and which is usually the pulmonary manifestation of a systemic polyclonal lymphoproliferative disease. GLILD contained both granulomatous and lymphoproliferative histopathologic patterns such as lymphocytic interstitial pneumonia , follicular bronchiolitis, and lymphoid hyperplasia. In recent series, approximately 8 to 22% of patients develop GLILD in VCID, and this complication is associated with increased mortality. Although there are now more studies conducted in the adult population, those in the pediatric population are only currently case report. To the best of our knowledge, very little data is available on this specific lung disease in the pediatric and young adults population.

Official Title
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Granulomatous-Lymphocytic Interstitial Lung Disease (GLILD) Diagnosed in Children and Young Adults With Common Variable Immunodeficiency

Conditions
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GLILD in a Population of Children and Young Adults

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: patient aged to 0 to 25 years old (at the diagnosis of GLILD) diagnosed with a primary immunodeficiency syndrome Common Variable Immunodeficiency like, according to the 1999 American and European Societies for Immunodeficiency criteria Suspected with GLILD (Granulomatous Lymphocytic Interstitial Lung Disease Exclusion Criteria: pulmonary diseases caused by other causes such as infectious or hypersensitivity pneumonitis

Ages Eligible for Study
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Maximum Age: 25 Years

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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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Lung biopsy | Number of patients suspected of GLILD with lung biopsy whose characteristics corresponds to those defined by the British Lung Foundation | from 1998 to july 2018 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Clinical symptomatology | Number of patients suspected of GLILD with significant clinical symptomatology | from 1998 to july 2018 | 
| Immunology | Number of patients suspected of GLILD with a particular immunological profile | from 1998 to july 2018 | 
| Pulmonary function tests | Number of patients suspected of GLILD with restrictive syndrome and/or carbon monoxide diffusion capacity alteration (Pulmonary Function Tests) | from 1998 to july 2018 | 
| CT chest in GLILD | Number of patients suspected of GLILD with radiological characteristics corresponding to those defined by the British Lung foundation | from 1998 to july 2018 | 
| Broncho-alveolar lavage | Number of patients suspected of GLILD with significant alteration of Broncho-alveolar Lavage | from 1998 to july 2018 | 
| GLILD Management | Number of patients suspected of GLILD who received a treatment for this indication | from 1998 to july 2018 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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GLILD, Common variable immunodeficiency, children