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immunodeficiency 15a - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 15a

MONDO:0032599

Also known as:IMD15A

Overview

GeneticsAutosomal dominant · IKBKB (chr 8)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased proportion of memory B cells, Decreased CD4+ T cell proportion, and Decreased CD8+ T cell proportion; and common findings: Cutaneous abscess, Recurrent otitis media, Recurrent respiratory infections, and Recurrent sinusitis. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Decreased proportion of memory B cells

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IKBKB encodes inhibitor of nuclear factor kappa B kinase subunit beta (756 aa). Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Highest expression in Spleen (67.2 TPM) and Fallopian Tube (52.0 TPM).

Immunodeficiency 15a has been associated with mutations in the IKBKB gene on chromosome 8.

The IKBKB protein participates in IKBKB Q432Pfs*62 and TNFα:TNFR1:TRADD:K63,Met1polyUb, p-S25-RIPK1:BIRC2/3:p-S-CHUK:p-S-IKBKB:IKBKG pathways.

IKBKB is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transcription Factor categories) with score 7.5.

Diagnosis

Genetic testing for IKBKB is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 4 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for immunodeficiency 15a.

5 publications have been identified in PubMed for immunodeficiency 15a. Research spans Basic Science / Preclinical (40%), Case Report / Case Series (20%), and Clinical Trial Publication (20%).

Recent Publications

Rossmanith R (2026). [PMID: 41518476](https://pubmed.ncbi.nlm.nih.gov/41518476/). *Journal of clinical immunology*. [Case Report / Case Series]
Mushunje PK (2025). [PMID: 41203736](https://pubmed.ncbi.nlm.nih.gov/41203736/). *Scientific reports*. [Clinical Trial Publication]
Mertowska P (2025). [PMID: 40355604](https://pubmed.ncbi.nlm.nih.gov/40355604/). *Scientific reports*. [Basic Science / Preclinical]
Koka PS (2024). [PMID: 38721526](https://pubmed.ncbi.nlm.nih.gov/38721526/). *Frontiers in cell and developmental biology*. [Basic Science / Preclinical]
Morrison S (2024). [PMID: 39085989](https://pubmed.ncbi.nlm.nih.gov/39085989/). *Journal of acquired immune deficiency syndromes (1999)*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:57 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618204

GARD

Genetic and Rare Diseases Info Center

GARD:18469

Questions for Your Care Team

→Should I pursue genetic testing for IKBKB, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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immunodeficiency 15a

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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