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An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported.
Features include always present findings: Decreased circulating total IgM, Agammaglobulinemia, Absent circulating B cells, and Recurrent respiratory infections and others; and sometimes findings: Meningitis, Transiently decreased total neutrophil count, and Type I diabetes mellitus. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 2 | Transiently decreased total neutrophil count, Recurrent respiratory infections |
SPI1 function has not been fully characterized.
Agammaglobulinemia 10, autosomal dominant is caused by mutations in the SPI1 gene on chromosome 11.
Genetic testing for SPI1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 6 always present features.
No clinical trials have been registered for agammaglobulinemia 10, autosomal dominant.
5 publications have been identified in PubMed for agammaglobulinemia 10, autosomal dominant. Research spans Epidemiology / Natural History (40%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).
Hua R (2026). [PMID: 41491418](https://pubmed.ncbi.nlm.nih.gov/41491418/). *BMC Pregnancy Childbirth*. [Epidemiology / Natural History]
Hlongwa L (2026). [PMID: 41692833](https://pubmed.ncbi.nlm.nih.gov/41692833/). *Sci Rep*. [Basic Science / Preclinical]
Tobin JM (2025). [PMID: 40842819](https://pubmed.ncbi.nlm.nih.gov/40842819/). *J Hum Immun*. [Review / Meta-Analysis]
Peng Q (2025). [PMID: 41394874](https://pubmed.ncbi.nlm.nih.gov/41394874/). *Front Immunol*. [Case Report / Case Series]
Khoshnevisan R (2024). [PMID: 38683392](https://pubmed.ncbi.nlm.nih.gov/38683392/). *Immunogenetics*. [Epidemiology / Natural History]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC
Online Mendelian Inheritance in Man
Common questions about agammaglobulinemia 10, autosomal dominant
Brain and nerves | 1 | Meningitis |
Lungs and breathing | 1 | Recurrent respiratory infections |
Hormones | 1 | Type I diabetes mellitus |
Age of onset: childhood.