BCL11B encodes BCL11 transcription factor B (894 aa). Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Highest expression in Skin Sun Exposed Lower leg (22.3 TPM) and Skin Not Sun Exposed Suprapubic (22.2 TPM).

Immunodeficiency 49 is associated with mutations in the BCL11B gene on chromosome 14.

The BCL11B protein participates in Transcription of NOTCH2NLA gene pathway.

BCL11B is classified as a druggable target (Clinically Actionable category) with score 0.0.

Genetic testing for BCL11B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 49 has been reported in the published literature.

Phenotype severity distribution: 15 always present features.

No clinical trials have been registered for immunodeficiency 49.

107 publications have been identified in PubMed for immunodeficiency 49. Research spans Epidemiology / Natural History (40%), Basic Science / Preclinical (17%), and Review / Meta-Analysis (11%).

Recent Publications

• Shchemelev AN (2026). [PMID: 42278661](https://pubmed.ncbi.nlm.nih.gov/42278661/). *Int J Mol Sci*. [Basic Science / Preclinical]

• Enriquez-Vera D (2026). [PMID: 41943118](https://pubmed.ncbi.nlm.nih.gov/41943118/). *Virol J*. [Basic Science / Preclinical]

• Vilakati LN (2026). [PMID: 41980368](https://pubmed.ncbi.nlm.nih.gov/41980368/). *Cancer Epidemiol*. [Clinical Trial Publication]

• Alshalani A (2026). [PMID: 41866345](https://pubmed.ncbi.nlm.nih.gov/41866345/). *Hematology*. [Epidemiology / Natural History]

• Mapipo M (2026). [PMID: 41941454](https://pubmed.ncbi.nlm.nih.gov/41941454/). *PLoS One*. [Epidemiology / Natural History]

• Kelly C (2026). [PMID: 41004608](https://pubmed.ncbi.nlm.nih.gov/41004608/). *J Infect Dis*. [Epidemiology / Natural History]

• Chang L (2026). [PMID: 41380114](https://pubmed.ncbi.nlm.nih.gov/41380114/). *Neurol Neuroimmunol Neuroinflamm*. [Clinical Trial Publication]

• Brzeziński M (2026). [PMID: 41296233](https://pubmed.ncbi.nlm.nih.gov/41296233/). *Infect Dis Ther*. [Gene Therapy / Novel Therapeutics]

• Chirila CB (2026). [PMID: 42002600](https://pubmed.ncbi.nlm.nih.gov/42002600/). *Sci Rep*. [Gene Therapy / Novel Therapeutics]

• Liu H (2026). [PMID: 41427928](https://pubmed.ncbi.nlm.nih.gov/41427928/). *Emerg Microbes Infect*. [Epidemiology / Natural History]