This syndrome is characterized by an increased susceptibility to disseminated nontuberculous mycobacterial infections, viral infections, especially with human papillomaviruses, and fungal infections, primarily histoplasmosis, and molds. There is profound monocytopenia, B lymphocytopenia and NK lymphocytopenia. Patients have an increased chance of developing malignancies, including: myelodysplasia/leukemia vulvar carcinoma, metastatic melanoma, cervical carcinoma, Bowen disease of the vulva, and multiple Epstein-Barr virus(+) leiomyosarcoma. Patients may also develop pulmonary alveolar proteinosis without mutations in the granulocyte-macrophage colony-stimulating factor receptor or anti-granulocyte-macrophage colony-stimulating factor autoantibodies. Last, patients may develop autoimmune phenomena, including lupus like syndromes, primary biliary cirrhosis or aggressive multiple sclerosis. Of the 26, now 28, patients probably afflicted by this syndrome, 48% died of causes ranging from cancer to myelodysplasia with a mean age at death of 34.7 years and median age of 36.5 years. + Clinical features and complications of the syndrome Clinical feature Overall (%) Autosomal dominant patients (%) Sporadic patients (%) Infection Mycobacteria 78 86 73 HPV 78 86 73 Fungi 28 43 18 Complication PAP 33 29 36 Panniculitis/erythema nodosum 33 29 36 Myelodiysplasia/acute myeloid leukemia 50 71 36 Death 28 43 18
MonoMAC
Methitural
Mers
Lime 
Drusen
MedChi
Caphosol
Keldur