Table 1 Table of reported cases of FOXN1 deficiency
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) | |
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 | |
3 to 6 | R255X | Acerno, Southern Italy | + | Â | + | Â | Â | Â | Â | Â | Â | Â | Â | 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 | |
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 | |
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] |