# agammaglobulinemia

> B cell deficiency that is caused by a reduction in all types of gamma globulins

**Wikidata**: [Q1047559](https://www.wikidata.org/wiki/Q1047559)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Hypogammaglobulinemia)  
**Source**: https://4ort.xyz/entity/agammaglobulinemia


## References

1. Disease Ontology
2. [Source](http://www.patient.co.uk/patientplus/h.htm)
3. Monarch Disease Ontology release 2018-06-29
4. Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development
5. Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.
6. Mutations in Igalpha (CD79a) result in a complete block in B-cell development
7. Mutations in the Human λ5/14.1 Gene Result in B Cell Deficiency and Agammaglobulinemia
8. A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
9. An essential role for BLNK in human B cell development
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. Human Phenotype Ontology release 2018-03-08
12. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)