immunodeficiency 62
MONDO:0032763Mondo
Findings
No curated finding names immunodeficiency 62 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
- Juvenile onset
HPO, annotations 2026-09-02
Features
13 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.
- BronchiectasisHPOHP:0002110
- 2 of 2 reported patients
- Complete or near-complete absence of specific antibody response to tetanus vaccineHPOHP:0410295
- 2 of 2 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 2 reported patients
- Decreased circulating isohemagglutinin concentrationHPOHP:0032139
- 1 of 1 reported patient
- Decreased memory B cell proportionHPOHP:0030374
- 2 of 2 reported patients
- Decreased total B cell countHPOHP:0010976
- 2 of 2 reported patients
- Increased transitional B cell proportionHPOHP:0030381
- 2 of 2 reported patients
- Recurrent herpesHPOHP:0005353
- 2 of 2 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 2 of 2 reported patients
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 2 of 2 reported patients
- Severe recurrent varicellaHPOHP:0005428
- 2 of 2 reported patients
- Autoimmune thrombocytopeniaHPOHP:0001973
- 1 of 2 reported patients
Show the remaining 1
- Decreased circulating IgM concentrationHPOHP:0002850
- 1 of 2 reported patients
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.
- ARHGEF1HGNC:681
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of