immunodeficiency 23
MONDO:0014353Mondo
Findings
No curated finding names immunodeficiency 23 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
82 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.
- Increased circulating IgE concentrationHPOHP:0003212
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
- Increased total eosinophil countHPOHP:0001880
- 9 of 9 reported patients
- Occasional (5% to 29% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Recurrent Staphylococcus aureus infectionHPOHP:0002726
- 8 of 9 reported patients
- AtaxiaHPOHP:0001251
- 7 of 8 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 6 of 7 reported patients
- Rheumatoid factor positiveHPOHP:0002923
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- AutoimmunityHPOHP:0002960
- Very frequent (80% to 99% of cases)
- Cutaneous abscessHPOHP:0031292
- Very frequent (80% to 99% of cases)
- Decreased total CD4+ T cell proportionHPOHP:0032218
- Very frequent (80% to 99% of cases)
- Eczematoid dermatitisHPOHP:0000964
- 7 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Recurrent infectionsHPOHP:0002719
- Very frequent (80% to 99% of cases)
Show the remaining 70
- Recurrent skin infectionsHPOHP:0001581
- Very frequent (80% to 99% of cases)
- AbscessHPOHP:0025615
- 7 of 9 reported patients
- Failure to thriveHPOHP:0001508
- 7 of 9 reported patients
- Frequent (30% to 79% of cases)
- BronchiectasisHPOHP:0002110
- 11 of 17 reported patients
- Occasional (5% to 29% of cases)
- Allergic rhinitisHPOHP:0003193
- 5 of 8 reported patients
- Occasional (5% to 29% of cases)
- Food allergyHPOHP:0500093
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.
- PGM3HGNC:8907
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
11 names
Resolves to: immunodeficiency 23
- Also called
- CID due to PGM3 deficiencycombined immunodeficiency due to PGM3 deficiencycombined inflammatory and immunologic defectIMD23immunodeficiency type 23immunodeficiency with hyper IgE and cognitive impairmentimmunodeficiency-vasculitis-myoclonus syndromePGM3-CDGPGM3-EXACT congenital disorder of glycosylationphosphoglucomutase 3 deficiencyphosphoglucomutase deficiency type 3