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Table 1 Clinical information for the 16 patients enrolled in the study

From: Phenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa

Patient

Sex

Clinical Presentation

Age at first presentation

Age at recruitment to study

Family history

IFN-γ release assay (QFT)

Routine Lab results

(Immunoglobulins, Complement, Neutrophil burst, Full blood count & differential subsets)

PID01

IFNGR1 (c.818del4)

F

Concurrent pulmonary TB, TB lymphadenitis and recurrent disseminated M.avium infection

6 months

23 years

No relevant PID history

Not performed

Routine Immunological workup normal

PID02

F

Diagnosed with pulmonary TB and TBM (Stage III) at age 9

9 years

10 years

TB exposed (mom). Younger sib also developed TBM

Not performed

Routine Immunological workup not done in full*. All investigations done were normal

PID03

F

Recurrent pulmonary TB (3 episodes), including MDR TB, as well as TB lymphadenitis

5 years

10 years

No relevant PID history. Household TB contact (mom)

Not performed

Slightly elevated IgA and IgM (raised less than 2 SD). All other investigations done were normal

PID04

M

Chronic mucoid diarrhoea since 3 weeks of age. Recurrent Salmonella type C infections

3 weeks

3 years

No relevant PID history

Not performed

All routine lab investigations normal. Autoimmune investigations normal

PID05

M

Recurrent pulmonary TB—4 culture confirmed cases, each more than 1 year apart. Previously diagnosed with Goldberg-Shprintzen Syndrome

9 months

14 years

No relevant PID history

Positive

Routine Immunological workup not done in full*. All investigations done were normal

PID06

M

Unusual extrapulmonary TB with spine and liver involvement

11 years

12 years

No relevant PID history. Household TB contacts

Not performed

Anaemia. Routine Immunological workup not done in full*. All investigations done were normal

PID07

M

Recurrent TB lymphadenitis requiring prolonged duration of treatment

3 years

4 years

No relevant PID history

Positive

Routine Immunological workup not done in full*. All investigations done were normal

PID08

F

Miliary TB and TB lymphadenitis

1 year

1 year

Sibling died early in childhood, with similar clinical presentation

Negative

Anaemia. Routine Immunological workup not done in full*. All investigations done were normal

PID09

F

Recurrent TB of the liver (6 + episodes). Shortly after end of treatment, TB reactivates, and patient needs to restart treatment. The most recent TB episode was MDR TB

1 year

7 years

No relevant PID history. MDR TB household contact

Not performed

Routine Immunological workup normal

PID10

M

Recurrent TB. First episode was miliary TB and 6 months after end of treatment presented with TBM. Second TBM episode (Stage II) 8 months after completion of TB treatment for previous episode

3 months

3 years

No relevant PID history

Not performed

Routine Immunological workup normal

PID11

F

This patient had a new-born that was diagnosed with TB. Upon investigation it was revealed that she (the mother) has had 6 suspected, although 4 confirmed, and treated episodes of pulmonary TB

15 years

20 years

No relevant PID history

Negative

Routine Immunological workup normal

PID12

M

Recurrent TB abscess of anterior chest wall

2 years

10 years

No relevant PID history. Household TB contacts

Positive

Routine Immunological workup normal

PID13

M

Septic arthritis and miliary TB, which progressed to TBM and eventual MDR TB regime

11 months

1 year

No relevant PID history

Not performed

Anaemia. Routine Immunological workup normal

PID14

F

Unusual TBM diagnosis in 9-year-old

9 years

10 years

No relevant PID history

Not performed

Routine Immunological workup normal

PID15

F

Recurrent TB, with hip involvement, and MDR TB

1 year

6 years

No relevant PID history

Positive

Routine Immunological workup normal

PID16

M

Recurrent TB (4 episodes), including MDR TB

6 months

5 years

History of severe& recurrent TB on paternal side

Positive

Routine Immunological workup normal

  1. *Neutrophil burst assay not performed for all patients due to difficulties related to sample collection from the individuals