TABLE 4.

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

	Disease	Gene	Transmission	PAP frequency	Other features
Immune deficiency	GATA2 deficiency/MonoMAC syndrome	GATA2	AD, haploinsufficiency	18% in one series [51]	Monocytopenia, mycobacterial infections, increased susceptibility to myelodysplastic syndromes and acute myeloid leukaemia, lymphedema,
	Adenosine deaminase deficiency [52]	ADA	AR	43.8% in one series [53]	SCID, neurodevelopmental deficits, sensorineural deafness and skeletal abnormalities
	Infantile-onset pulmonary alveolar proteinosis with hypogammaglobulinaemia [54]	OAS1	AD	Unknown	Hypogammaglobulinaemia, splenomegaly, recurrent bacterial and viral infections
Metabolic disorder	Lysinuric protein intolerance	SLC7A7	AR	62.5% 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.