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 |