Successful Lung Transplant for Bronchiectasis in an Adult Male with Autosomal Recessive Chronic Granulomatous Disease with a Novel NF1 Gene Mutation.
Monday, March 7, 2016
South Exhibit Hall H (Convention Center)
Ryan B. Israelsen, MD, Merritt L. Fajt, MD, Maria M. Crespo, MD, Andrej A. Petrov, MD
Rationale: Chronic granulomatous disease (CGD) is a rare immunodeficiency curable at a young age by stem cell transplant (SCT). To our knowledge this is the first reported lung transplant (LT) performed in a patient with CGD.

Methods: PubMed search was conducted for combinations of CGD and LT.

Results: At 19 months of age, this Trinidadian male had his first respiratory infection which required prolonged hospitalization and antibiotic treatment. Thereafter he was hospitalized frequently during childhood for respiratory infections. At 27 years of age, biopsy of a large mastoid abscess revealed granulomas. CGD was initially diagnosed with a Nitroblue Tetrazolium test. A CBC was normal except for elevated monocytes. Lymphocyte subsets, HIV testing, and cystic fibrosis screening were normal. IgA level was slightly elevated at 725mg/dL. Additionally, he developed bronchiectasis necessitating tracheostomy at 28 years of age despite standard treatment. Genetic testing [performed by Gene Dx (Gaithersburg, MD)] revealed heterozygous autosomal recessive CGD with a novel missense mutation of the NF1 gene (p.His51Pro or c.152A>C). While on chronic systemic steroids and oxygen, spirometry showed FEV1 16% predicted and FVC 30% predicted. At age 32, he underwent a successful double LT with alemtuzumab induction and immunosuppression with tacrolimus, mycophenolate and prednisone.  Pathology demonstrated necrotizing granulomas without acid fast bacilli. Eighteen months post-transplant the patient continues to tolerate LT.

Conclusions: LT may be a viable option in patients with CGD. Future areas of research should focus on the viability of solid organ transplantation as a bridge to curative SCT in patients with secondary organ damage.