Failure to thrive is common. Main clinical
features can include metaphyseal dysostosis, chronic diarrhea,
hepatosplenomegaly, eczematoid rash, and pyoderma. Recurrent pseudomonas and
monilia infections are frequent, particularly bronchopulmonary infections.
Bronchiectasis and emphysema are often observed. Susceptibility to viral
infections. Immunologic features are remarkable: absent thymus, T-cell
deficiency, impaired antibody synthesis, cellular immune defect, decreased
lymphoid tissue while plasma cells are present, impaired delayed hypersensitivity
with poor skin graft rejection. Humoral immunity is normal, as is the
immunoglobulin level. Lymphopenia is observed.