Type: Immunodeficiency
Chronic granulomatous disease
Phagocyte oxidative-burst defect with recurrent catalase-positive infections and granulomas.
Ataxia-telangiectasia
DNA-repair disorder with progressive ataxia, oculocutaneous telangiectasia, immunodeficiency and cancer risk.
Common variable immunodeficiency
Commonest symptomatic primary antibody deficiency with low immunoglobulins and recurrent infections.
DiGeorge syndrome
Microdeletion disorder with thymic hypoplasia, cardiac defects, hypocalcemia and facial features.
Hyper-IgE syndrome
Primary immunodeficiency with very high IgE, eczema, recurrent skin/lung infections and connective-tissue features.
Severe combined immunodeficiency
Profound T-cell (and often B/NK) deficiency presenting with life-threatening infections in infancy; newborn-screened.
Wiskott-Aldrich syndrome
Triad of eczema, microthrombocytopenia and immunodeficiency.
X-linked agammaglobulinemia
Failure of B-cell maturation with near-absent immunoglobulins and recurrent bacterial infections.