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Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
ORPHA:317473
Classification level: Disorder
- CVID phenotype due to IKAROS functional haploinsufficiency
- Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Adolescent, Adult, Childhood, Infancy, Neonatal
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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- Research project(s) (45)
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Newborn screening