agammaglobulinemia 2, autosomal recessive
Findings
No curated finding names agammaglobulinemia 2, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013287), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
7 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.
- Absent circulating B cellsHPOHP:0030252
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 1 reported patient
- Decreased circulating IgM concentrationHPOHP:0002850
- 1 of 1 reported patient
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
- Abnormal T cell morphologyHPOHP:0002843
- 0 of 1 reported patient
- AgammaglobulinemiaHPOHP:0004432
- Recurrent bacterial infectionsHPOHP:0002718
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.
- IGLL1HGNC:5870
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: agammaglobulinemia 2, autosomal recessive
- Also called
- agammaglobulinemia, autosomal recessive, due to IGLL1 defectAGM2autosomal agammaglobulinemia caused by mutation in IGLL1IGLL1 autosomal agammaglobulinemialambda 5 deficiency