combined immunodeficiency due to LRBA deficiency
MONDO:0013863Mondo
Findings
No curated finding names combined immunodeficiency due to LRBA deficiency 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
44 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.
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 4 of 4 reported patients
- Erythema nodosumHPOHP:0012219
- 1 of 1 reported patient
- Generalized lymphadenopathyHPOHP:0008940
- 1 of 1 reported patient
- Persistently decreased total neutrophil countHPOHP:0410252
- 1 of 1 reported patient
- PneumoniaHPOHP:0002090
- 5 of 5 reported patients
- Recurrent infectionsHPOHP:0002719
- 1 of 1 reported patient
- Recurrent respiratory infectionsHPOHP:0002205
- 5 of 5 reported patients
- SepsisHPOHP:0100806
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 9 of 10 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 4 of 5 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 7 of 9 reported patients
Show the remaining 32
- Decreased specific antibody response to vaccinationHPOHP:0032140
- 6 of 8 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 10 of 14 reported patients
- Villous atrophyHPOHP:0011473
- 4 of 6 reported patients
- Chronic diarrheaHPOHP:0002028
- 7 of 11 reported patients
- BronchiectasisHPOHP:0002110
- 3 of 5 reported patients
- Chronic lung diseaseHPOHP:0006528
- 3 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.
- LRBAHGNC:1742
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: combined immunodeficiency due to LRBA deficiency
- Also called
- CID due to LRBA deficiency