Table 1 Clnical and demographic characteristics of CGD patients in Malaysia 1991–2016
Patient | Gender | Ethnic | Age(y) onset. | Age (years) diagn. | E Sib death | Clinical features | 0rganism | 0utcome | Neutrophi defect | DHR abn | Gene mutatiojn | Protein abn |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
P01 | F | M | 3 | 7 | Y | Abscess skin, eczema, septicemia, retinitis pigmentosa | N menigitides, C violaceum | Alive | CA NBT | nd | NCF1 | p47 phox |
P02 | M | M | na | 1.3 | Y | Abscess skin, cellulitis, pneumonia, lymphadenitis, septicemia, cholecystitis | C violaceum | Died | CA NBT | nd | nd | nd |
P03 | M | C | 11 | 11 | Y | pneumonia | norcardia | Alive | CA | nd | nd | p47 phox |
P04 | F | C | na | 5 | Y | Recurrent. lymphadenitis( cervical ) | nil | Loss FU | CA | nd | nd | p47 phox |
P05 | M | M | na | 0.4 | Y | Abscess (skin, Liver), jaundice | Staph, E Coli | Died | CA NBT | nd | nd | nd |
P06 | M | M | na | 0.9 | Y | Abscess skin, pneumonia, septicemia, hepatomegaly,splenomegaly | C violaceum | Died | CA | nd | nd | nd |
P07 | F | M | na | 0.6 | n | A bnormal facies, abscess skin, hepatomegaly,splenomegaly | nil | Loss FU | CA | nd | nd | nd |
P08 | M | I | 3.7 | 5 | n | Abscess skin | na | Alive | CA | nd | nd | nd |
P09 | F | M | 0.1 | 0.3 | n | Abscess scalp, oral thrush, | candida | Loss FU | CA | nd | nd | nd |
P10 | F | M | na | 0.9 | na | Abscess skin gluteal region | na | Loss FU | CA | nd | nd | nd |
P11 | F | M | 0.3 | 1 | na | Pneumonia | na | Loss FU | CA | nd | nd | nd |
P12 | M | NB | 0.3 | 2 | na | Abscess( (iver,spleen), pneumonia | B peudomallei (titres) | Alive HSCT | CA | nd | nd | p47 phox |
P13 | M | I | 3 | 12 | n | Abscess skin submental, inguianal, recurrent eye infections | na | loss FU | nd | + | nd | p47 phox |
P14 | M | M | 5 | 5 | na | Abscess brain, gangrenous toe, hepatomegaly,splenomegaly | C violaceum | Died | CA | nd | NCF1 | p47 phox |
P15 | F | M | 0.6 | 4.5 | n | Abscess (periosteum, spleen), arthritis | na | Loss FU | CA | nd | nd | nd |
P16 | M | NB | 0.67 | 1.9 | n | Abscess spleen,pneumonia, hepatomegaly,splenomegaly | RSV, mycoplasma | Alive | CA | nd | nd | nd |
P17 | M | M | 0.08 | 1.6 | Y | Abscess speen, pneumonia, disseminated TB | nil | Alive | CA | + | CYBB | nd |
P18 | M | C | 0.25 | 0.9 | n | Lymphadentis TB, pneumonia, meningitis, meliodosis hepatomegaly splenomegaly | Klebsiella sp. Staph areus, B pseudomallei(titre) | Alive | CA | + | CYBB | nd |
P19 | M | M | na | 12 | Y | Absccess skin, bronchiectasis | na | Loss FU | CA | + | nd | nd |
P20 | M | M | 0.08 | 0.6 | n | Abscess skin, pneumonia, osteomyelitis, hepatomegaly,splenomegaly | Kleibsella, C violaceum, E coli. | Died. | CA | + | nd | nd |