Search

A case of hypertrophic osteoarthropathy is described in an 8-year-old child with late-onset agammaglobulinemia, bronchiectasis and clubbing of the fingers and toes. The child presented with pain of recent onset in the legs, ankles, and knees and a diagnosis of hypertrophic osteoarthropathy was made on the basis of the radiologic findings. Therefore the differential diagnosis of bone and joint pain in agammaglobulinemic subjects must take into account hypertrophic osteoarthropathy.

Immunodeficiency disorders can be classified on clinical grounds into two broad groups according to whether all features are the result of the immune defect (immunodeficiency syndromes) or whether many, even prominent, features cannot be explained by the immune defect (syndromes with immunodeficiency). X-linked agammaglobulinemia and X-linked chronic granulomatous disease are paradigmatic examples of immunodeficiency syndromes. Despite some overlap (for instance extra-immune symptoms, although minor, are present in several variants of severe combined immunodeficiency and chronic granulomatous disease) immunodeficiency syndromes and syndromes with immunodeficiency are easily distinguishable. Together with the pathogenetic classification of the WHO, the present approach to a clinical classification amplifies the operational concept of immunodeficiency also from a therapeutic point of view.