BACKGROUND: @entity5970 ( @entity5970 ) is a rare @entity358 characterized by surfactant accumulation, and is caused by disruption of @entity2841 ( @entity2841 ) signaling. Abnormalities in CSF2 receptor alpha ( @entity10734 ) were reported to cause pediatric hereditary @entity5970 . We report here the first case of @entity10734 -mutated, elderly-onset hereditary (h) @entity5970 . CASE PRESENTATION: The @entity1 developed @entity1353 on exertion, and was diagnosed with @entity5970 at the age of 77  years, based on findings from chest computed tomography scan and bronchoalveolar lavage. She tested negative for @entity2841 autoantibodies, with no underlying disease. Her serum @entity2841 level was elevated (91.3  pg/mL), indicating @entity2841 signaling impairment and @entity74 in the @entity2841 receptor. @entity2841 -stimulated phosphorylation in @entity11715 ( @entity11715 ) was not observed, and @entity2841 -Ra expression was defective in her blood cells. Genetic screening revealed a homozygous, single-base @entity6344 mutation at nt 508-a nonsense mutation that yields a stop codon ( @entity69183 )-in exon 7 of @entity10734 . High-resolution analysis of single nucleotide polymorphism array confirmed a 22.8-Mb loss of heterozygosity region in Xp22.33p22.11, encompassing the @entity10734 gene. She was successfully treated with whole lung lavage (WLL), which reduced the serum levels of interleukin (IL)-2, @entity225 , and @entity4155 , although @entity2772 and @entity6824 levels remained high. CONCLUSIONS: This is the first known report of elderly-onset hPAP associated with a @entity10734 mutation, which caused defective @entity2841 -Ra expression and impaired signaling. The analyses of serum cytokine levels during WLL suggested that @entity2841 signaling might be compensated by other signaling pathways, leading to elderly-onset @entity5970 .

Elderly-onset hereditary XXXX and its cytokine profile.

@entity1 :: ('9606', 'Species') :: ['patient'] @entity6344 :: ('c|SUB|C||T', 'DNAMutation') :: ['C   >   T'] @entity225 :: ('3567', 'Gene') :: ['IL-5'] @entity1353 :: ('MESH:D004417', 'Disease') :: ['dyspnea'] @entity69183 :: ('p|SUB|Q|170|X', 'ProteinMutation') :: ['Q170X'] @entity4155 :: ('3605', 'Gene') :: ['IL-17'] @entity358 :: ('MESH:D008171', 'Disease') :: ['lung disease'] @entity10734 :: ('1438', 'Gene') :: ['CSF2RA'] @entity74 :: ('MESH:D030342', 'Disease') :: ['genetic defects'] @entity5970 :: ('MESH:D011649', 'Disease') :: ['Pulmonary alveolar proteinosis', 'PAP'] @entity2772 :: ('3562', 'Gene') :: ['IL-3'] @entity11715 :: ('6776', 'Gene') :: ['STAT5', 'signal transducer and activator of transcription 5'] @entity6824 :: ('1435', 'Gene') :: ['M-CSF'] @entity2841 :: ('1437', 'Gene') :: ['granulocyte/macrophage colony-stimulating factor', 'GM-CSF']
@entity5970 :: (MESH:D011649,Disease) :: ['pulmonary alveolar proteinosis']
