Manifestation | APDS 1 | APDS 2 | ||
---|---|---|---|---|
Typical symptoms | Symptoms in the patient 1 | Typical symptoms | Symptoms in the patient 2 | |
Infectious complications | ||||
Recurrent respiratory infections | ||||
Pneumonia | + | + | + | + |
Bronchitis | + | + | + | + |
Sinusitis | + | + | + | + |
Otitis | + | − | + | + |
Viral infections | ||||
HPV | + | − | + | − |
CMV | + | + | + | − |
EBV | + | − | + | − |
Adenovirus | + | + | − | − |
Parasitic and fungal infections | + | + | + | − |
Gastrointestinal infections | + | + | − | − |
Non-infectious complications | ||||
Lymphadenopathy | + | + | + | + |
Splenomegaly | + | + | + | − |
Hepatomegaly | + | + | + | − |
Nodular lymphoid hyperplasia in the gastrointestinal tract | + | + | + | − |
Signs of facial dysmorphia | − | − | + | + |
Short stature | − | − | + | + |
Intellectual disability | − | − | + | − |
Microcephalia | − | − | + | − |
Mutation | ||||
E1021K | + | + | − | − |
N334K | + | − | − | − |
E525K | + | − | − | − |
C416R | + | − | − | − |
NM_181523 | − | − | + | + |
Laboratory abnormalities | ||||
Lower concentrations of IgG and IgA | + | + | + | + |
Elevated concentration of IgM | + | + | + | − |
Lymphopenia CD19+ | + | + | + | + |
Elevated count of T lymphocytes CD8+ | + | + | + | − |
Inverted CD4/CD8 ratio | + | + | + | + |
Lower count of naïve T lymphocytes CD4+ (CD4+CD45RA+) | + | + | + | − |
Lower count of naïve T lymphocytes CD8+ (CD8+CD45RA+) | − | − | + | − |
Treatment | ||||
Immunoglobulin replacement therapy | + | + | + | + |
Immunosuppressive therapy | + | − | + | − |
Allo-HSCT | + | + | + | − |