Age at genetic diagnosis/sex | Patient 1 (1 year, male) | Patient 2 (4 year, male) |
---|---|---|
Respiratory infections | √ | √ |
Hepatomegaly | √ | N |
Splenomegaly | √ | N |
Lymphadenectasis | √ | N |
Thrombocytopenia | N | √ |
ANA | − | + |
dsDNA | − | + |
Immunoglobulins | IgM ↑ IgG ↓ IgA nl | IgM ↑ IgG ↑ IgA ↑ |
Complement | nl | C3 ↓ C4 ↓ |
Mutation site | c.3061 G > A | c.2314G > A |
New mutation site | N | √ |
Diagnosis | APDS1 | SLE/APDS1 |