Abstract

Objective: Chronic granulomatous disease (CGD) is characterized by increased susceptibility to infections and inflammation that may lead to various gastrointestinal (GI) abnormalities. Our objective was to better characterize the GI manifestations among patients suffering from CGD as well as the effects of different treatments.Methods: We analyzed 11 patients with CGD managed by the immunology service at the Hospital for Sick Children, Toronto, Ontario between 2000 and 2012.Results: All patients had one or more GI abnormality including colitis (72.7%), peri-anal fissure/abscess (36.3%) or oral aphthous ulcers (36.3%). Failure to thrive occurred in 5 patients (45.4%), all with associated colitis. Bone marrow transplantations (BMT) using HLA-identical sibling donors were performed in 4 patients, with 3 patients surviving. In these 3 patients, the inflammation-mediated GI manifestations present before BMT resolved during the follow-up period of 3.2-4.6 years. In contrast, 6 of 7 patients who did not receive BMT (p=0.033) continued to suffer from GI disease resulting in failure to thrive, GI bleeding and life threatening small bowel perforation and often required immune suppressive medications.Conclusions: Inflammatory GI manifestations, particularly colitis, are very common in CGD and are often associated with significant morbidity. Allogeneic BMT, particularly if an HLA-matched sibling donor is available should be considered in patients with CGD who suffer from significant GI involvement.

Highlights

  • IntroductionChronic granulomatous disease (CGD) is a primary immunodeficiency caused by impaired neutrophils production of reactive oxygen species secondary to defects in different components of the NADPH oxidase enzyme complex including the gp91phox (CYBB on chromosome Xp21.1), p47phox (NCF1 on chromosome 7q11.23), p67phox (NCF2 on chromosome 1q25), and p22phox (CYBA on chromosome 16q24)

  • Capsule: Inflammatory gastrointestinal complications, colitis, are very common among patients suffering from chronic granulomatous disease

  • The gastrointestinal abnormalities in patients with chronic granulomatous disease can be cured by allogeneic hematopoietic stem cell transplantations

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Summary

Introduction

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by impaired neutrophils production of reactive oxygen species secondary to defects in different components of the NADPH oxidase enzyme complex including the gp91phox (CYBB on chromosome Xp21.1), p47phox (NCF1 on chromosome 7q11.23), p67phox (NCF2 on chromosome 1q25), and p22phox (CYBA on chromosome 16q24). Patients with CGD often suffer from infections caused by Staphylococcus aureus, Burkholderia cepacia complex, Serratia marcescens, Nocardia spp, Aspergillus spp, Salmonella, Bacille Calmette–Guérin (BCG) and tuberculosis, affecting organs such as the lungs, skin, soft tissues and bones [1]. Many patients suffer from abnormal inflammatory response resulting in autoimmunity and granuloma formation. These granulomas may obstruct the urinary or gastrointestinal (GI) tract [1]. Additional GI manifestations including non-infectious colitis, enteritis, peri-anal disease, diarrhea, vomiting, aphthous ulcers and gingivitis are common among patients with CGD [2,3,4,5,6]. The GI manifestations might lead to failure to thrive and require treatment with immune modulating medications, such as steroids, thalidomide, azathioprine, methotrexate and anti-TNF medications, thereby further increasing risk of infections and reducing quality of life [7,8]

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