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
ImmunodeficienciesClinically 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 malignancyMainly lymphoid tumours (in patients aged <16 years)
Lymphoid and nonlymphoid tumours in older patients
NeurologicalNeurodegeneration of the cerebellum
Progressive cerebellar ataxia
Oculomotor apraxia
Movement disorders: chorea, dystonia
OtherOcular, cutaneous and mucosal telangiectasias
Accelerated ageing
Diabetes mellitus
  • #: there are no pulmonary telangiectasias; : not reviewed in this article.