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. 2014 May 29;5(2):87–99.

Table 1.

Population characterization for the TNF-α and CFTR genotypes, Shwachman-Kulczycki and Kanga scores, transcutaneous oxygen saturation of hemoglobin and forced expiratory volume in the first second (%) (FEV1) of forced vital capacity

Patient TNF-α genotype CFTR genotype Shwachman-Kulczycki Kanga Oxygen saturation FEV1%

-238G>A -308G>A
MVG G/G G/A F508del/F508del Moderate Normal Normal Normal
JPD G/G G/A F508del/F508del **** Normal Normal Mild
RSR G/A A/A F508del/F508del Excellent Normal Mild Normal
EVM G/G A/A F508del/R1162X Excellent Normal Mild Severe
IFM G/G A/A F508del/F508del **** **** **** ****
MLA G/G A/A F508del/F508del **** Exacerbate Normal Moderate
VLPC G/G A/A F508del/F508del Moderate Normal Normal Normal
MAB G/G A/A F508del/F508del Severe Exacerbate Mild Severe
EVSMS G/G A/A F508del/F508del **** Normal Normal Mild
YBK G/G A/A F508del/F508del Moderate Normal Normal Normal
HB G/A A/A F508del/G542X **** Normal Severe Severe
WSP G/G A/A F508del/G542X Moderate Normal Mild Severe
DRG G/G A/A F508del/F508del **** **** **** ****
BBK G/G G/A F508del/N1303K **** **** **** ****
AO G/G A/A F508del/F508del **** Exacerbate Mild Mild
LSM G/A A/A F508del/F508del Excellent Normal Normal Moderate
VAL G/G A/A F508del/F508del Good Normal Mild Mild
LFSA G/G A/A F508del/F508del **** Normal Mild Mild
IBN G/G A/A F508del/R553X Excellent Normal Normal Normal
CAQ G/G G/G F508del/G542X **** Normal Normal Mild
MEMZ G/A A/A F508del/F508del **** Normal Normal Normal
TMG G/G G/G F508del/F508del Moderate Normal Normal Normal
JMGR G/G G/A F508del/N1303K **** Normal Normal ****
MAP G/A G/G F508del/F508del **** **** **** ****
AX G/G A/A F508del/F508del Good Normal Normal Normal
LPOL G/G G/A F508del/N1303K Good Normal Normal ****
EG G/G A/A F508del/R1162X Good Normal Normal Normal
NCB G/G G/A F508del/R553X **** Normal Mild Severe
FVV G/G A/A F508del/G542X Excellent Normal Normal Normal
LSS G/G A/A F508del/F508del **** Exacerbate Moderate ****
RNC G/G A/A F508del/F508del **** Normal Normal ****
FEL G/G A/A F508del/G542X Moderate Normal Normal Moderate
GOV G/G G/A F508del/F508del **** Normal Normal ****
CVAR G/G A/A F508del/G542X **** Normal Normal ****
EAG G/G A/A F508del/F508del **** Normal Mild ****
AVM G/G G/G DF508/G542X Excellent Normal Normal Normal
BSG G/G A/A G542X/R1162X Good Exacerbate Mild Mild
GPNS G/A A/A F508del/F508del **** Normal Normal ****
CAL G/G A/A DF508/G542X Good Normal Normal Normal
MOS G/G G/G F508del/F508del Moderate Normal Normal ****
FSC G/G A/A F508del/F508del Good Normal Normal Normal
ITVS G/G G/A F508del/F508del **** Normal Normal Normal
JRL G/G G/G F508del/F508del Mild Normal Normal ****
GPT G/A A/A F508del/F508del Excellent Normal Normal Normal
ASR G/A G/A F508del/R1162X **** **** **** ****
VAF G/G A/A F508del/F508del **** Normal Normal ****
IRO G/A G/G F508del/F508del **** Normal Normal ****
BMSL G/G A/A R1162X/R1162X **** **** **** ****
BSC G/A A/A F508del/F508del Moderate Normal Normal Mild

****: no data; CFTR = Cystic Fibrosis Transmembrane Regulator; TNF-α = tumor necrosis factor.