deficiency in anterior pituitary function - variable immunodeficiency syndrome
MONDO:0017407Mondo
Findings
No curated finding names deficiency in anterior pituitary function - variable immunodeficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Adrenocorticotropin deficient adrenal insufficiencyHPOHP:0011735
- Very frequent (80% to 99% of cases)
- Decreased circulating ACTH concentrationHPOHP:0002920
- Very frequent (80% to 99% of cases)
- Decreased circulating cortisol levelHPOHP:0008163
- Very frequent (80% to 99% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Very frequent (80% to 99% of cases)
- Decreased total B cell countHPOHP:0010976
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- Hypoglycemic comaHPOHP:0001325
- Very frequent (80% to 99% of cases)
- HyponatremiaHPOHP:0002902
- Very frequent (80% to 99% of cases)
- HypotensionHPOHP:0002615
- Very frequent (80% to 99% of cases)
- Recurrent bronchitisHPOHP:0002837
- Very frequent (80% to 99% of cases)
- Recurrent hypoglycemiaHPOHP:0001988
- Very frequent (80% to 99% of cases)
- Recurrent otitis mediaHPOHP:0000403
- Very frequent (80% to 99% of cases)
Reported absent (4)
- Autoimmune antibody positivityHPOHP:0030057
- HyperkalemiaHPOHP:0002153
- ThyroiditisHPOHP:0100646
- VitiligoHPOHP:0001045
Show the remaining 22
- Recurrent pharyngitisHPOHP:0100776
- Very frequent (80% to 99% of cases)
- Recurrent pneumoniaHPOHP:0006532
- Very frequent (80% to 99% of cases)
- Recurrent sinusitisHPOHP:0011108
- Very frequent (80% to 99% of cases)
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- Very frequent (80% to 99% of cases)
- Recurrent viral infectionsHPOHP:0004429
- Very frequent (80% to 99% of cases)
- Abnormal lymphocyte morphologyHPOHP:0004332
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NFKB2HGNC:7795
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: deficiency in anterior pituitary function - variable immunodeficiency syndrome
- Also called
- David syndrome