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