Monogenic immune deficiencies and metabolic disorders having pulmonary alveolar proteinosis (PAP) as a frequent pulmonary manifestation

DiseaseGeneTransmissionPAP frequencyOther features
Immune deficiencyGATA2 deficiency/MonoMAC syndromeGATA2AD, haploinsufficiency18% in one series [51]Monocytopenia, mycobacterial infections, increased susceptibility to myelodysplastic syndromes and acute myeloid leukaemia, lymphedema,
Adenosine deaminase deficiency [52]ADAAR43.8% in one series [53]SCID, neurodevelopmental deficits, sensorineural deafness and skeletal abnormalities
Infantile-onset pulmonary alveolar
proteinosis with hypogammaglobulinaemia [54]
OAS1ADUnknownHypogammaglobulinaemia, splenomegaly, recurrent bacterial and viral infections
Metabolic disorderLysinuric protein intoleranceSLC7A7AR62.5% in one series [55]Failure to thrive, hepato-splenomegaly, renal, neurological, musculoskeletal and haematological involvements

AD: autosomal dominant; AR: autosomal recessive; SCID: severe combined immunodeficiency.