TABLE 2

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

GeneMutation (colloquial nomenclature)Type of mutation(s)Protein (western blot)GM-CSF serumGM-CSF BALFCD11b stimulation indexSTAT5 phosphorylation[Ref.]
CSF2RAR217XNonsenseAbsentIncreasedIncreasedReducedAbsent[20]
920dupGCDuplication and frameshiftAbsentIncreasedIncreasedReducedAbsent[20]
ΔEx7Deletion and frameshiftAbsentIncreasedIncreasedReducedAbsent[20]
ΔEx7-8Deletion in frameAbsentIncreasedIncreasedReducedAbsent[20]
G196RMissensePresentIncreasedIncreasedReducedReduced[19–21]
XpΔ1.6DeletionAbsentIncreasedIncreasedAbsentAbsent[20]
XpΔ0.41DeletionAbsentNormalNDAbsentND[20]
R199XNonsenseND##NDAbsent[19]
G>A Ex12/Int12 borderDonor splice site mutationND##NDReduced[19]
dupEx8DuplicationND##NDND[19]
ΔEx2-13DeletionND##NDReduced[19]
Xp22.3, Yp11.3DeletionND##NDAbsent[19]
S25XNonsenseND##NDReduced[19]
ΔCSF2RA, Xp22.33p22.2DeletionNDNDNDNDND[22]
C178YMissenseNDIncreasedNDNDND[24]
XpΔ0.425DeletionAbsentNDNDNDReduced[23]
ΔEx1-13DeletionAbsentIncreasedNDNDReducedNew patient
CSF2RBS271LMissensePresentIncreasedNDNDReduced[25]
631delCFrameshift and stopAbsentIncreasedNDReducedAbsent[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.