Table 2.

Overview of genes involved in chILD

Gene		Position	Inheritance	Clinical presentation	Treatment
Surfactant protein disorders
SFTPB	Surfactant protein B	2p11.2	AR	Neonatal respiratory distress, poor prognosis	Symptomatic; lung transplantation
SFTPC	Surfactant protein C	8p21.3	AD	Variable presentation	Corticosteroids and hydroxychloroquine; lung transplantation
ABCA3	ATP-binding cassette-family A member 3	16p13.3	AR	Neonatal and poor prognosis or late presentation with good prognosis	Hydroxychloroquine; azithromycin; lung transplantation
Pulmonary alveolar proteinosis
CSF2RA	Colony stimulating factor 2 receptor alpha	Xp22.32	X-linked	Infancy or adult presentation	Whole lung lavage
CSF2RB	Colony stimulating factor 2 receptor beta	22q12.3	AR	Infancy or adult presentation	Whole lung lavage
MARS	Methionyl–transfer RNA synthetase	12q13.3	AR	ILD, anemia, hypothyroidism	Symptomatic; whole lung lavage
General disorders
COPA	Coatomer associate protein subunit alpha	1q23.2	AD	ILD or hemorrhage, inflammatory arthritis	Janus kinase inhibitors; lung transplantation
NKX2-1	NK2 homeobox 1	14q13.3	AD	Congenital hypothyroidism, chorea and lung disease	Symptomatic; lung transplantation
FLNA	Filamin A	Xq28	X-linked recessive	Severe manifestations and respiratory failure	Symptomatic; lung transplantation
TBX4	T-box transcription factor4	17q23.2	AD	Acinar dysplasia and pulmonary hypertension	Lung transplantation

AD autosomal dominant, AR autosomal recessive, ATP adenosine triphosphate, chILD childhood interstitial lung disease, ILD interstitial lung disease, NK natural killer