CGD is a rare primary immunodeficiency with predisposition to autoinflammatory and granulomatous complications predominantly of lungs and gastrointestinal tract (GIT).
75 patients with CGD were observed.
Autoinflammatory complications developed in 44 (58%): lung granulomas in 28 cases, inflammatory small intestine/bowel disease – 9, liver granulomas – 7, other localizations – 11, combined damage - 14. Patients with lung granulomas had respiratory insufficiency, increased of leukocyte, neutrophils and CRP levels, infiltrative lung lesions on CT examination. Morphological findings showed focuses of lymphoid and large epithelioid cells infiltration with giant multinuclear cells. Nine patients with inflammatory bowel diseases had mild diarrhea, growth retardation, hypoproteinemia, increase of leukocyte, CRP, calprotectine levels. Endoscopy examination: inflammatory, erosive, sometimes with hemorrhage focuses in bowel and/or small intestine. Morphology: lymphocyte, plasmocyte, neutrophil infiltration of lamina propria with giant multinuclear cells. Combined lung and GIT and/or other localizations was observed in 14 cases. Treatment included budesonide, prednisone, sulfasalazine (in bowel involvement) and rapamycin. The last was used in partial effect or severe adverse reactions to glucocorticoids. Rapamycin was used in 5 cases with good effect and without adverse events. Rituximab in combined therapy was used in one case with lung granuloma with CD20+ cells infiltration.
The rare complications were uveitis (3 cases), hemophagocytic lymphohistiocytosis (2 cases) and discoid lupus erythematosus (in two brothers with X-CGD and their mother).
Autoinflammatory complications are frequent in CGD patients and may occure as separate symptom or in combination with infection. Immunosuppressive therapy is selected individually, usually includes the combination of different agents.