Table 1.

Known Genetic Causes of ChILD Syndrome

	Alveolar capillary dysplasia	SP-B deficiency	ABCA3 deficiency	SP-C dysfunction	Brain–thyroid–lung syndrome	GM-CSF receptor deficiency, α chain	Lysinuric protein intolerance
OMIM	#265380	#265120 SMDP1	#610921 SMDP3	#610913 SMDP2	#610978	#300770 SMDP4	#222700
Locus	FoxFl	SFTPB	ABCA3	SFTPC	TTF1 (Nkx2.1)	CSF2RA	SLC7A7
Chromosomal location	16q24.1	2p12-p11.2	16p13.3	8p21	14q13.3	Xp22.32, Yp11.3	14q11.2
Inheritance	AD, sporadic	AR	AR	AD, sporadic	AD, sporadic	AR	AR
Mechanism	Haplo insufficiency	Loss of function	Loss of function	Toxic gain of function	Haplo insufficiency	Loss of function	Loss of function
Onset of pulmonary symptoms	Neonate	Neonate	Neonate, infancy, childhood	Neonate < infancy to adult	Newborn, infancy	Childhood	Infancy to childhood
Principal histology	ACD/MPV	SDM	SDM	SDM	SDM	PAP	PAP
Other findings	Cardiac, GI, or GU malformations				Hypothyroidism Neurological		Hyperammonemia Vomiting Failure to thrive
Course	Severe, fatal	Severe, fatal	Variable	Variable	Variable		Progressive

Abbreviations: OMIM, Online Mendelian Inheritance in Man; SMDP, surfactant metabolism dysfunction, pulmonary; AD, autosomal dominant; AR, autosomal recessive; ACD/MPV, alveolar capillary dysplasia with misalignment of the pulmonary veins; SDM, surfactant dysfunction, metabolic; PAP, pulmonary alveolar proteinosis; GI, gastrointestinal; GU, genitourinary; GM-CSF, granulocyte–macrophage colony-stimulating factor; SP-B, surfactant protein B; SP-C, surfactant protein C; ABCA3, surfactant protein ABCA3; TTF1, thyroid transcription factor 1.