immunodeficiency 96
MONDO:0030693Mondo
Findings
No curated finding names immunodeficiency 96 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
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
15 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 T cell proliferationHPOHP:0031379
- 1 of 1 reported patient
- Conjunctival telangiectasiaHPOHP:0000524
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 6 of 6 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 6 of 6 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 5 of 5 reported patients
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Increased gamma-delta T cell proportionHPOHP:0500270
- 4 of 4 reported patients
- Increased mean corpuscular volumeHPOHP:0005518
- 5 of 5 reported patients
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Recurrent infectionsHPOHP:0002719
- 5 of 5 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 1 reported patient
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
Show the remaining 3
- Multicystic kidney dysplasiaHPOHP:0000003
- 2 of 5 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 1 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 5 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.
- LIG1HGNC:6598
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: immunodeficiency 96
- Also called
- IMD96immunodeficiency, autosomal recessive due to LIG1 deficiency