immunodeficiency 92
MONDO:0030498Mondo
Findings
No curated finding names immunodeficiency 92 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
- Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- Abnormal B cell proliferationHPOHP:0031380
- 1 of 1 reported patient
- BCGosisHPOHP:0020087
- 1 of 1 reported patient
- CholangitisHPOHP:0030151
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 1 reported patient
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 1 of 1 reported patient
- Decreased total B cell countHPOHP:0010976
- 1 of 1 reported patient
- EsophagitisHPOHP:0100633
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Increased total leukocyte countHPOHP:0001974
- 1 of 1 reported patient
- Increased total lymphocyte countHPOHP:0100827
- 1 of 1 reported patient
Show the remaining 8
- OsteomyelitisHPOHP:0002754
- 1 of 1 reported patient
- Partial absence of specific antibody response to tetanus vaccineHPOHP:0410297
- 1 of 1 reported patient
- Persistent CMV viremiaHPOHP:0032247
- 1 of 1 reported patient
- PneumoniaHPOHP:0002090
- 1 of 1 reported patient
- Recurrent feverHPOHP:0001954
- 1 of 1 reported patient
- Recurrent oral herpesHPOHP:0410028
- 1 of 1 reported patient
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.
- RELHGNC:9954
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · ClinGen · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: immunodeficiency 92
- Also called
- IMD92immunodeficiency due to REL deficiency