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Deficiency in anterior pituitary function-variable immunodeficiency syndrome
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Disease definition
A rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.
ORPHA:293978
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Guidelines
Emergency guidelines
Clinical practice guidelines
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (49)
- Clinical trial(s) (3)
- Biobank(s) (10)
- Registry(ies) (32)
- Network of experts (7)
Newborn screening
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