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Abstract available in the Journal of Investigative Medicine.

Rationale: CGD is characterized by recurrent life-threatening infections with bacterial and/or fungal pathogens and granuloma formation. This is caused by defects in the phagocyte NADPH oxidase systems. Deficiency of MBL caused by mutations in the coding part of the MBL2 gene is associated with increased risk and severity of infections and autoimmunity. Combined deficiencies of MBL and NADPH oxidase have not been described commonly, and we report one such case. Methods: The patient records were reviewed, and laboratory data collected. Genetic mutation analysis for MBL2 gene was done at IBT laboratory while CGD mutation analysis is pending. Results: A 2 y/o Caucasian male presents with an intermittent fever for several weeks with an enlarging blister in the right anterolateral thigh. The patient had a history of recurrent pneumonias. Chest CT demonstrated prominent interstitial markings with pulmonary nodules. Lung Biopsy revealed multifocal nodular necrotizing granulomas. Neutrophil Oxidative Burst Test was consistent with X-linked CGD (Patient 14.3/Control 1375.5). The serum level of MBL was 25ng/mL (N=>500). MBL genetic analysis showed LXPA/LYPB (the latter being the defective haplotype). Elevated CRP and polyclonal hyperglobulinemia were consistent with previous report in CGD. The patient was treated with itraconazole, bactrim and interferon gamma with consistent improvement. Conclusions: The role of MBL deficiency in this patient with severe necrotizing granulomatous disease of the lung is unclear. However it seems likely that MBL defects will contribute to worse infections in patients with phagocyte malfunction. The true prevalence of MBL defect in CGD needs to be studied.