deficiency in anterior pituitary function-variable immunodeficiency syndrome

ORPHA: 293978

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with deficiency in anterior pituitary function-variable immunodeficiency syndrome, sourced from HPO and Orphanet clinical annotations.

Recurrent otitis mediaHypoglycemic comaRecurrent hypoglycemiaHypotensionRecurrent upper respiratory tract infectionsRecurrent bronchitisHyponatremiaDecreased circulating ACTH concentrationDecreased circulating immunoglobulin concentrationRecurrent viral infectionsDecreased total B cell countRecurrent pneumoniaDecreased circulating cortisol levelRecurrent sinusitisAdrenocorticotropin deficient adrenal insufficiencyFatigueRecurrent pharyngitisAlopeciaBronchiectasisAbnormal lymphocyte morphologyNail dystrophyAbnormal size of pituitary glandAbnormal periungual morphologyDiplopiaDecreased response to growth hormone stimulation testGlobal developmental delayFailure to thriveAutoimmune thrombocytopeniaGeneralized non-motor (absence) seizurePsoriasiform dermatitisAlopecia totalisDecreased circulating androgen concentrationDecreased circulating serum insulin-like growth factor 1 concentrationSepsis

Classification & Codes

Orphanet Code

ORPHA:293978
deficiency in anterior pituitary function-variable immunodeficiency syndrome
OrphanetORPHA:293978
Treatments0 drug(s)
Symptoms on record34 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO