granulocytopenia with immunoglobulin abnormality
MONDO:0009305Mondo
Findings
No curated finding names granulocytopenia with immunoglobulin abnormality yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
27 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.
- Acne inversaHPOHP:0040154
- 1 of 1 reported patient
- ArteritisHPOHP:0012089
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharideHPOHP:0410300
- 1 of 1 reported patient
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- High anterior hairlineHPOHP:0009890
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- HSV encephalitisHPOHP:0012302
- 1 of 1 reported patient · Young adult onset
- HypoglycemiaHPOHP:0001943
- 1 of 1 reported patient · Neonatal onset
- ImmunodeficiencyHPOHP:0002721
- 1 of 1 reported patient
- MalabsorptionHPOHP:0002024
- 1 of 1 reported patient
Show the remaining 15
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Narrow faceHPOHP:0000275
- 1 of 1 reported patient
- Narrow noseHPOHP:0000460
- 1 of 1 reported patient
- Oval faceHPOHP:0000300
- 1 of 1 reported patient
- Pectus carinatumHPOHP:0000768
- 1 of 1 reported patient
- Prolonged neonatal jaundiceHPOHP:0006579
- 1 of 1 reported patient · Neonatal onset
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.
- HYOU1HGNC:16931
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: granulocytopenia with immunoglobulin abnormality
- Also called
- immunodeficiency 59 and hypoglycemia