Journal of Immunology Research

Research Article

Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005–2015): New Studies and a Literature Review

Table 1

Clinical characteristics of 48 CGD patients in this study.
Pts/
sex		Year of diagnosisFamily
history		Onset
age
(mo) 		Diagnosis age
(mo) 		Status-age
(death cause) 		Type of infectionsBCG diseaseSI
LungSkinDigestive systemLymphadenitisSepticopyemiaOther symptomsRegionalDistantDisseminated
PneumoniaTBPustular eruptionSkin
abscess		Perianal abscessDiarrheaLiver abscess
P1/M2015−036Dead-3 y
(severe pneumonia)		+−+−+−−+−UTI, HSM++−ND
P2/M2010−224Alive-9 y−−−−−−−−−Left renal abscess,
left hydronephrosis, hypospadias		−−−ND
P3/M2013−17Dead-1 y
(TB)		−+−−−−−+−ASD, PDA++−18
P4/M2014−317Alive-3 y++−−−+−++Mild anemia, eczema, EBV infection, eosinophilia, otitis media−+−1.27
P5/M2013−312Alive-5 y+−−+++−−+Moderate anemia, skin granulomas, HSM−−−ND
P6/M2012−072Alive-11 y++−−++−+−HSM, thrush++−2.95
P7/M2014−248Alive-7 y+−−++−−−−Recurrent URI, HSM+−−4.57
P8/M2005−072Alive-17 y+++−−−−+−HSM+++ND
P9/M2013−27Alive-3 y+−−−−−−−−PFO−−−ND
P10/M2010+23.5Alive-7 y−−−−−+−−+Mild anemia, eczema, Kawasaki disease,
Thrush, ventricular septal defect		−−−1.41
P11/M2014−024Alive-4 y+−−+−−−+−Vitamin K deficiency++−ND
P12/M2015−136Alive-4 y−−+−−−−+−HSM−+−ND
P13/M2007−0.9336Dead-4 y
(osteomyelitis)		+−−−−−+−−Osteomyelitis, urticaria, eczema,
thrush		+−−0.76
P14/M2011−236Alive-9 y+−−−−−−+−Orbital cellulitis, dacryocystitis,
skin granulomas, otitis media, HSM		++−0.96
P15/M2012−624Alive-7 y+−−−−+−−−Moderate anemia,
recurrent URI, thrush		−−−3
P16/M2015−13Alive-1 y−−+−++−−−HSMNANANAND
P17/F2015−348Alive-5 y+−−−−−−+−AR, MS, AH, AN, moderate anemia, EBV infection−−−24.64
P18/M2015−0.671Alive-1 y+−−−−−−−+Severe malnutrition, myocardial injury, NH, purulent meningitis, HMNANANAND
P19/M2014−36Alive-3 y+−−−−+−+−Mild anemia, HSM−+−0
P20/M2012+02Alive-4 y+−+−+−−−+ASD, HSM−−−ND
P21/M2014−318Alive-4 y++−−−−++−HSM, recurrent URI−++0
P22/M2011+110Alive-6 y−−−+++−−−Testicular abscess, otitis media, thrush
recurrent URI, HM		−−−0.86
P23/M2011+12Dead-1 y
(septicopyemia)		+−−−++−−+HM−−−0.94
P24/M2012−218Alive-6 y+−−−+−−+−Hydrocele, heart failure, PFO, thrush+−−ND
P25/M2009+24Dead-1 y
(septicopyemia)		−−−−+−−−−HSM−−−0.77
P26/M2008+0.331Alive-9 y+−+−−+−+−HSM, mild anemia++−0.74
P27/M2009+0.12Alive-8 y−−+−+−−−−Eczema, brain edema, encephalitis, HM−−−1.59
P28/M2011−24180Alive-20 y++−++−−+−Behçet's disease, thrush++−ND
P29/M2013−16Dead-0.5 y
(septicopyemia)		+−−−++−++HSM, mild anemia−+−2.73
P30/M2008+0.673Dead-0.5 y
(infections after HSCT)		−−+−−−−+−HSM−−−1.99
P31/M2009−224Alive-9 y+−−−+−+++Renal cyst,
mild anemia,
skin granulomas, HSM		−+−0
P32/M2013−0.51Alive-3 y+−−+−−−−− −−−4.25
P33/M2010+3132Dead-13 y
(severe pneumonia)		+−−−−−−+−Eczema, thrush++−0.72
P34/M2015+048Alive-6 y−+−−−−−+−Hypokalemia++−3
P35/M2012NA0.076.63Dead-1 y
(liver abscess)		+−−−++−+−HM++−2.75
P36/M2007−2460Dead-6 y
(NEC)		+−−+−+−++HM, recurrent URI, thrush−−−16.70
P37/M2014−48Alive-2 y+−−−−−−−−HSM, CHD,
recurrent URI		NANANAND
P38/M2013−312Alive-4 y+−−+++−−+HSM, moderate anemia, Kawasaki disease, otitis media−−−24.67
P39/F2010+024Alive-8 y−−−+−−−−−HM, eczema, liver function damage+−−3.62
P40/M2011−4248Alive-9 y−−−−−−−+−Eczema−−−1.83
P41/F2014−0.676Alive-3 y+−−+−−−−−Skin granulomas,
splenic abscess		−−−6.15
P42/M2014+360Alive-7 y+−−−+−−+−Mild anemia, tonsillar enlargement, BO, thrush++−ND
P43/M2005−11.5Alive-11 y+−−+−−−−− −−−4.27
P44/M2011−224Alive-7 y+−−−−−−−− −−−5.43
P45/F2011 0.40.83Alive-5 y−−+−−−−−−Omphalitis−−−2.62
P46/M2007+0.512Alive-10 y+−+−+++−−HM+−−1.99
P47/M2007−35Dead-1 y
(severe pneumonia)		+−−−−−−+−HSM, eczema,
umbilical hernia		−+−40.15
P48/M2009−0.672Alive-7 y+−−−−−−−−Thrush−−−0.94
Pts: patients; mo: month; TB: tuberculosis; BCG: Bacille Calmette-Guerin; UTI: urinary tract infection; ASD: atrial septal defect; PDA: patent ductus arteriosus; EBV: Epstein-Barr virus; PFO: patent foramen ovale; URI: upper respiratory infection; AR: allergic rhinitis; MS: maxillary sinusitis; AH: adenoid hypertrophy; AN: acanthosis nigricans; NH: neonatal hyperbilirubinemia; CHD: congenital heart disease; BO: bronchiolitis obliterans; HGM: hepatosplenomegaly; HM: hepatomegaly; NEC: necrotic enterocolitis; ND: not determined; NA: not available; SI: stimulation index.
Besides the DHR assay, P37 also did 2 times of nitroblue tetrazolium (NBT) tests, and both of the results were 0%.