TABLE 1.
Clinical manifestations of ataxia telangiectasia
| Respiratory# | Recurrent respiratory tract infections including otitis media, sinusitis, bronchitis and pneumonia |
| Bronchiectasis secondary to recurrent/chronic infection and aspiration | |
| Interstitial lung disease | |
| Obliterative bronchiolitis | |
| Aspiration syndromes due to incoordinate swallowing | |
| Opportunistic infections | |
| Restrictive lung disease due to scoliosis, neuromuscular disease or fibrosis | |
| Immunodeficiencies | Clinically not apparent in all patients |
| Variable degrees | |
| Generally nonprogressive | |
| IgA and IgG2 deficiency most common | |
| Low total IgG and IgE also seen | |
| Poor polysaccharide antibody responses | |
| Variable cellular immunodeficiency (low numbers of T- and B-cells) | |
| Increased risk of malignancy | Mainly lymphoid tumours (in patients aged <16 years) |
| Lymphoid and nonlymphoid tumours in older patients | |
| Neurological¶ | Neurodegeneration of the cerebellum |
| Progressive cerebellar ataxia | |
| Oculomotor apraxia | |
| Movement disorders: chorea, dystonia | |
| Other¶ | Ocular, cutaneous and mucosal telangiectasias |
| Accelerated ageing | |
| Diabetes mellitus |
#: there are no pulmonary telangiectasias; ¶: not reviewed in this article.