A Systematic Way to Find Linear Motifs Mediating Protein–Protein Interactions

Background: Pulmonary alveolar proteinosis (PAP) is a rare disease characterised by accumulation of lipoproteinaceous material within alveoli, occurring in three clinically distinct forms: congenital, acquired and secondary. Among the latter, lysinuric protein intolerance (LPI) is a rare genetic disorder caused by defective transport of cationic amino acids. Whole Lung Lavage (WLL) is currently the gold standard therapy for severe cases of PAP. Case presentation: We describe the case of an Italian boy affected by LPI who, by the age of 10, developed digital clubbing and, by the age of 16, a mild restrictive functional impairment associated with a high-resolution computed tomography (HRCT) pattern consistent with pulmonary alveolar proteinosis. After careful assessment, he underwent WLL. Conclusion: Two years after WLL, the patient has no clinical, radiological or functional evidence of pulmonary disease recurrence, thus suggesting that WLL may be helpful in the treatment of PAP secondary to LPI. Background : pulmonary involvement in LPI Pulmonary alveolar proteinosis (PAP) is a rare disease characterized by the accumulation of a lipoproteinaceous, eosinophilic, periodic acid-Schiff (PAS) positive material within alveoli [1]. The disease was first described in 1958 [2] and up to 2002 about 410 cases have been reported in the literature [3]. The clinical course of the disease is variable, ranging from severe respiratory failure to spontaneous remission. PAP occurs in three distinct forms: congenital, acquired and secondary. The congenital form derives from mutations in the genes encoding surfactant protein (SP) B or C or the βc chain of the receptor for the granulocyte-macrophage colonystimulating factor (GMCSF). Acquired (or idiopathic) PAP is the most common form, occurring in previously healthy adults and is nowadays considered an autoimmune disease in which circulating anti GM-CSF neutralizing autoantibodies play a significant role [4]. Secondary PAP is associated with conditions that lead to functional impairment or reduced numbers of alveolar macrophages, such as some hematologic malignancies, inhalation of inorganic dusts or toxic fumes, pharmacologic immunosuppression, certain infecPublished: 26 March 2007 Orphanet Journal of Rare Diseases 2007, 2:14 doi:10.1186/1750-1172-2-14 Received: 12 December 2006 Accepted: 26 March 2007 This article is available from: http://www.OJRD.com/content/2/1/14 © 2007 Ceruti et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.