Table 1 Clinical data
Origin | Pakistan |
Sex | Female |
Age at last evaluation | 3 years |
Age at onset of symptoms | 3 weeks |
Anemia | + (recurrent transfusions) |
Abscesses/skin infections | + (Multiple) |
Bronchiectasis | – |
Eczema/dermatitis | + (Severe) |
Otitis media | – |
GI problems/food allergy | + (Severe) |
Pneumonia | + (Multiple) |
Encephalitis | – |
Recurrent Staph A infections | + (from 1 month of age) |
Candida infections | + (from 2 months of age) |
Severe viral infections | + (CMV) |
Autoimmunity | + (TSH receptor and TPO autoantibodiesa) |
Skeletal dysplasia | – |
Scoliosis | – |
Dysmorphic facial features | – |
Developmental delay | – |
Psychomotor retardation | – |
Failure to thrive | + (length -5SD below the mean, weight − 6 SD below the mean) |
Hematopoietic stem cell transplantation | – |
Splenomegaly | – |
Vascular abnormalities | + (hypoplasia/occlusion of superior vena cava) |