TABLE 2.

Mutations described in patients with CSF2RA and CSF2RB and their biological features

Gene	Mutation (colloquial nomenclature)	Type of mutation(s)	Protein (western blot)	GM-CSF serum	GM-CSF BALF	CD11b stimulation index	STAT5 phosphorylation	[Ref.]
CSF2RA	R217X	Nonsense	Absent	Increased	Increased	Reduced	Absent	[20]
	920dupGC	Duplication and frameshift	Absent	Increased	Increased	Reduced	Absent	[20]
	ΔEx7	Deletion and frameshift	Absent	Increased	Increased	Reduced	Absent	[20]
	ΔEx7-8	Deletion in frame	Absent	Increased	Increased	Reduced	Absent	[20]
	G196R	Missense	Present	Increased	Increased	Reduced	Reduced	[19–21]
	XpΔ1.6	Deletion	Absent	Increased	Increased	Absent	Absent	[20]
	XpΔ0.41	Deletion	Absent	Normal	ND	Absent	ND	[20]
	R199X	Nonsense	ND	#	#	ND	Absent	[19]
	G>A Ex12/Int12 border	Donor splice site mutation	ND	#	#	ND	Reduced	[19]
	dupEx8	Duplication	ND	#	#	ND	ND	[19]
	ΔEx2-13	Deletion	ND	#	#	ND	Reduced	[19]
	Xp22.3, Yp11.3	Deletion	ND	#	#	ND	Absent	[19]
	S25X	Nonsense	ND	#	#	ND	Reduced	[19]
	ΔCSF2RA, Xp22.33p22.2	Deletion	ND	ND	ND	ND	ND	[22]
	C178Y	Missense	ND	Increased	ND	ND	ND	[24]
	XpΔ0.425	Deletion	Absent	ND	ND	ND	Reduced	[23]
	ΔEx1-13	Deletion	Absent	Increased	ND	ND	Reduced	New patient
CSF2RB	S271L	Missense	Present	Increased	ND	ND	Reduced	[25]
	631delC	Frameshift and stop	Absent	Increased	ND	Reduced	Absent	[26]

GM-CSF: granulocyte–macrophage colony-stimulating factor; BALF: bronchoalveolar lavage fluid; ND: not done. ^#: GM-CSF levels in serum and BALF were determined in three and four patients, respectively, and were constantly elevated as compared to controls but the data are not given by patient and/or mutation.