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Table 1 Family history and clinical manifestations in CGD patients

From: Preliminary study on chronic granulomatous disease in Sri Lanka

Patient

Consanguinity

Sibling deaths

Age at manifestation

Clinical manifestation

P-01

Yes

C1 (M) Died at 4 months after febrile illness

C2 (M) Died at 2 months. Post mortem examination revealed numerous caseating granulomata of lung and pleural tissue, consistent with bronchopneumonia due to tuberculosis (TB) (or Mycobacterium bovis following BCG)

C3 (M, P-12) Diagnosed with CGD. Died at 3 years

1 month

Positive NBT. Diagnosed with CGD. On anti-microbial prophylaxis

P-02

No

No siblings

1½ months

Otitis media and meningitis

2½ months

Septicaemia. Treated with meropenem for 7 days

3 months

Left axillary lymph node abscess. Anti-TB category I and II for 1 year

4 months

Right upper lobe pneumonia, otitis media

Oral thrush twice while on IV antibiotics

7 months

Positive NBT. Diagnosed with CGD. Prophylaxis commenced. Started anti-TB treatment

2 years

Died following stem cell transplantation

P-03

No

C1 (M) Healthy

12 days

Nasal vestibulitis. Treated with IV Augmentin

27 days

Multiple skin abscesses on hands and feet

Right elbow joint osteomyelitis

2 months

LRTI

Positive NBT. Diagnosed with CGD. Prophylaxis commenced

5 months

Skin abscesses on right forearm and left buttock

7 months

Skin abscesses, pus discharge from BCG scar site, left axillary lymphadenopathy. Mantoux > 10 mm

P-04

No

C1 (F) Healthy

C2 (M) Died at day 11 due to septicaemia

16 days

Fever, pyelonephritis, septicaemia, cellulitis, cervical lymphadenopathy, hepatosplenomegaly, and skin rash. Blood culture was positive for B. cepacia and Candida albicans

43 days

Fever. Chest X ray revealed inflammatory changes. Lymph node biopsy revealed epithelioid cells and necrotizing inflammatory material. He was commenced on anti TB therapy

2 months

Positive NBT. Diagnosed with CGD. Anti-microbial prophylaxis initiated

P-05

Yes

C1 (M) Died at 1 year 3 months after febrile illness

6 months

LRTI

10 months

Middle mediastinal mass. Biopsy indicated caseous necrosis. Compatible with TB, treated with anti-TB therapy

11 months

Pneumonia

2 years

Recurrent oral ulcers

2 years 7 months

Positive NBT. Diagnosed with CGD. Started on anti-microbial prophylaxis

5 years 7 months

Oral thrush

P-06

Yes

Sibling of P-05

1 year 8 months

Urinary tract infection (culture positive)

Multiple episodes of pneumonia, meningitis. Cervical lymphadenopathy

4 years

Right cavitatory pneumonia, failure to thrive

6 years

Left lower eye lid abscess and cellulitis

Pseudomonas aeruginosa septicaemia

Ecthyma gangrenosum, parotitis

Positive NBT. Diagnosed with CGD. Anti-microbial prophylaxis initiated

10 years

LRTI. Sputum negative TB. Anti-TB therapy category I and later II commenced

11 years

HRCT Chest—early parenchymal and interstitial lung fibrosis mainly affecting upper lobes, and bronchiectasis of lower lobes

14 years

Bronchopneumonia, blood culture revealed C. parapsilosis

LRTI

15 years

LRTI, abscesses

P-07

No

No siblings

1 months

Poorly resolving pneumonia, high fever spikes

2½ months

Multiple skin abscesses

Positive NBT. Diagnosed with CGD. On anti-microbial prophylaxis

4 months

Abscesses occurred in scrotum, cheek and liver

1 year 2 months

Blood stained stools. Right inguinal lymphadenopathy

3 years

Anal fissure

Inguinal lymphadenopathy. Excision biopsy revealed granulomata and central suppurative necrosis

3½ years

Poorly resolving pneumonia (right middle lobe and lower lobe consolidation). Mantoux 18 mm

Anti-TB category I commenced

4½ years

Middle/left lobe pneumonia

5 years

Pustules on the face. On itraconazole and cotrimoxazole prophylaxis

P-08

No

C2 (M) Healthy

7 months

Dysentery

8½ months

LRTI

1 year 9 months

Fever of unknown origin (21 days)

3½ years

Mediastinal mass. Biopsy revealed extensive caseous necrosis. Acid fast bacilli not seen. Mantoux negative. Anti-TB therapy category I commenced (7 months)

3 years 9 months

Left lower lobe pneumonia

4 years

Right middle lobe pneumonia, lymphadenopathy

4 years 5 months

Anaemia, hepatosplenomegaly. Treated with Iron (7 months)

4 years 8 months

Fever, erythematous pustular rashes on lower limbs. Bone marrow showed increased lymphoplasmacytic activity

Perihilar lymphadenopathy. TB culture, TB-PCR negative. Query—relapse of TB. Started on anti-TB therapy category II (7 months)

5½ years

Fever for 1 month while on category II anti-TB therapy. Multiple areas of consolidation in lungs, mediastinal lymphadenopathy and hepatosplenomegaly. CT thorax guided biopsy—granulomatous inflammation suggestive of TB. Acute bronchopneumonia

6 years 4 months

Positive NBT. Diagnosed with CGD. Prophylaxis commenced

P-09

Yes

C1 (M) Healthy

C2 (F) Healthy

3 days

Fever, mild jaundice. Treated with IV antibiotics

2 months

Meningitis, bronchopneumonia. Treated with IV antibiotics

3 months

LRTI. Treated with IV cefotaxime

4 months

LRTI

8 months

Fever, meningitis. Mantoux 26 mm. Anti-TB therapy started

11 months

Positive NBT. Diagnosed with CGD. Prophylaxis commenced

2 years

Patient expired

P-10

No

C1 (M) Died at 1½ years following possible pneumonia

C2 (F) Healthy

C3 (M) Died at 1 year 2 months following possible pneumonia

C4 (M) Healthy

C5 (F) Healthy

1 year 1 month

Right middle lobe pneumonia, lung abscess

Positive NBT. Diagnosed with CGD. Prophylaxis commenced

4 years

LRTI and perineal abscess

6 years

Bronchopneumonia

7 years

Skin abscesses over right knee joint

9 years

Cystitis, splenomegaly

10 years

Patient expired

P-11

Yes

No siblings

1½ months

Severe failure to thrive, bilateral granulomatous cervical lymphadenitis. Defaulted anti-TB treatment

4 months

Poor weight gain. Tonic convulsions, sepsis, hepatosplenomegaly. TB meningitis suspected. PCR of gastric aspirate for mycobacteria (GeneXpert) negative. Anti-TB therapy commenced

6 months

Positive NBT. Diagnosed with CGD. Prophylaxis commenced

1 year

Patient expired

P-12

Yes

Elder sibling of P-01

2 months

Admitted with febrile illness, and treated for sepsis with IV antibiotics for 21 days. Itraconazole and cotrimoxazole prophylaxis

8 months

Skin abscess after DTP dose 3, liver abscess, fever, iron deficiency anaemia. IV antibiotics for 1 week. Liver abscess drained

11 months

Positive NBT. Diagnosed with CGD

2 years 3 months

Measles, fever, respiratory features, abdominal distension. Treated with IV antibiotics

Mesenteric and paracentric lymphadenopathy. Anti-TB therapy commenced. Pus culture from abdominal wall abscess positive for MRSA

3 years 3 months

Liver abscess, lymphadenopathy. Patient expired due to possible TB compilations

P-13

No

No

4 months

Skin abscesses

Poor wound healing

6 months

Bronchiolitis

7 months

Pyrexia

Pseudomonas aerugenosa isolated from wound swab

Positive NBT. Diagnosed with CGD. Prophylaxis commenced