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type II complement component 8 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

type II complement component 8 deficiency

MONDO:0013421

Also known as:C8 deficiency, type IIC8B classic complement early component deficiencyclassic complement early component deficiency caused by mutation in C8B

Overview

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.

GeneticsAutosomal recessive · C8B (chr 1)

ResearchLimited published research (3 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: Meningitis, Decreased circulating complement C8 concentration, and Recurrent Neisserial infections.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Meningitis
Blood and immune system

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.

C8B encodes complement C8 beta chain (591 aa). Component of the membrane attack complex (MAC), a multiprotein complex activated by the complement cascade, which inserts into a target cell membrane and forms a pore, leading to target cell membrane rupture and cell lysis. Highest expression in Liver (295.3 TPM) and Lung (1.4 TPM).

Type II complement component 8 deficiency is associated with mutations in the C8B gene on chromosome 1.

C8B is classified as a druggable target (Druggable Genome category) with score 0.6.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for C8B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for type II complement component 8 deficiency has been reported in the published literature.

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 type II complement component 8 deficiency.

3 publications have been identified in PubMed for type II complement component 8 deficiency. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Barbetti R (2026). [PMID: 42181774](https://pubmed.ncbi.nlm.nih.gov/42181774/). *Mol Genet Metab Rep*. [Case Report / Case Series]
Nayagam SM (2025). [PMID: 41372752](https://pubmed.ncbi.nlm.nih.gov/41372752/). *Clinical proteomics*. [Basic Science / Preclinical]
Lin X (2025). [PMID: 40599774](https://pubmed.ncbi.nlm.nih.gov/40599774/). *Frontiers in immunology*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613789

GARD

Genetic and Rare Diseases Info Center

GARD:10625

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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type II complement component 8 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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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