Background and Aims

The risk of carcinogenesis in primary immunodeficiencies (PID) is increased by 25% compared to the general population. The type and incidence of cancer manifestations correlate with PID form, patients age and spectrum of certain type viral infectious.

Methods

During 25 years we observed 785 patients with different forms of PID.

Results

Oncology diseases developer in 37 cases (5%). The main frequency of cancer was in patients with NBS1 – 20 of 41 (51%): 15 –ALL/lymphoma, 2 – AML, 1-embrional rabdomyosarcoma, 1-Hodgkin disease, 1-CNS-cancer. Six patients received standard course of chemotherapy for malignancy type they had previous NBS1 diagnosis. All of them had infectious complications, prolonged periods of cytopenias. In all patients diagnosed as NBS1 before malignancies development was used reduced doses of MTX and ciclophosphamide; rituximab in cases B-cell lyphomas/ALL with good effect.

Malignant diseases developed in 9 of 84 patients with ataxia-teleangiectasia (10,7%): 3 - Hodgkin disease with relapses and death, 4 – ALL/lymphoma, 1- CNS-glioma with death, 1 – stomach cancer. In 4 cases parents refused from treatment.

B-cell lymphoma observed in 5 of 12 boys with XLP (36%). Remission > 1 year in 4, relapse after 3 years remission -1.

B-cell lymphoma developed in 2 and Hodgkin disease in 1 of 51 WAS patients (5,8%). Patients with lymphomas had prolong cytopenias after chemotherapy.

Severe T-cell lymphoma with death developed in 1 of 76 with CVID (1,3%).

Conclusions

Our data showed the highest frequency of malignancies in NBS1 (51%), main common types of malignancy were ALL/lymphoma and Hodgkin disease – 88%.

Background and Aims

CGD is a rare primary immunodeficiency with predisposition to autoinflammatory and granulomatous complications predominantly of lungs and gastrointestinal tract (GIT).

Methods

75 patients with CGD were observed.

Results

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).

Conclusions

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.