Patient (Sex) | Mutation | Ethnic origin | Clinical Phenotype | Immunological Phenotype | Treatment | Outcome | Ref. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Congenital AU | Nail dystrophy | Recurrent Infections | OS | FTT | Other | Total lymph-ocytes | T | B | NK | ||||||
1 (F) Sib. of patient 2 | R255X | Acerno, Southern Italy | + | + | + |
+ (2 m) | + (2 m) | - Bilateral epicanthic folds | ↑ |
↓ - Greater ↓ in CD4 vs. CD8 - Abnormal proliferation - Absent thymus on CXR |
↔ - Defective Ab production | ↔ | Supportive | Died aged 12 m (resistant bronchopneumonia) | [1, 2] |
2 (F) Sib. of patient 1 | R255X | Acerno, Southern Italy | + | + |
+ - Pyogenic - Respiratory tract |
Mild (2 m) | + | - Bilateral epicanthic folds | ↔ |
↓ - Greater ↓ in CD4 vs. CD8 - Abnormal proliferation - Absent thymus on CXR | ↔ | ↔ | HLA matched Sib. BMT 5 m |
6y post BMT: - Failed to reconstitute naïve CD4 T-cells - Abnormal T-cell proliferation & TCR repertoire - But infection free - Persistent AU and nail dystrophy | [1, 2, 30] |
3 to 6 | R255X | Acerno, Southern Italy | + | + | Died early childhood (severe infections) | [25] | |||||||||
7 (F) | R255X | Portugal | + | + |
+ - Atypical mycobacteria (BCG, M. bovis) - Rotavirus |
Mild (3 m) | + | ↔ |
↓ - Greater ↓ in CD4 vs. CD8 - ≤1% naïve CD4 T-cells - Oligoclonal TCR repertoire - ↓TRECs - Abnormal proliferation |
↔ - Defective Ab production | ↔ |
- HLA mismatched thymus transplant (14 m) - Ig infusions (pre-transplant) |
5y post thymus transplant: - T-cell compartment successfully reconstituted - Infection free - Normal Ab production | [23, 63] | |
8 (M) | R320W |
France/ Africa | + | + |
+ - Respiratory tract - HHV6 | ↓ |
↓ - Absent T-cells & proliferation | ↓ | ↔ |
- HLA mismatched thymus transplant (9 m) - Ig infusions (pre-transplant) |
3y post thymus transplant: - T-cell compartment successfully reconstituted - Infection free - Normal Ab production - Thyroid autoimmunity & vitiligo - Persistent AU and nail dystrophy | [23, 27] | |||
9(F) | S188fs | Lebanon | + |
+ (1 m) |
↓ - ≤1% naïve CD4 T-cells - Absent recent thymic emigrants - Abnormal proliferation | ↔ | ↔ | HLA matched sib. HSCT (5 m) | Died (complications post HSCT) | [26] |