Features include always present findings: Recurrent bacterial infections and Partial functional complement factor D deficiency.

CFD encodes complement factor D (253 aa). Serine protease that initiates the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. Highest expression in Adipose Subcutaneous (2,110 TPM) and Adipose Visceral Omentum (1,401 TPM).

Recurrent Neisseria infections due to factor D deficiency is associated with mutations in the CFD gene on chromosome 19.

CFD is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 17.4.

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

Phenotype severity distribution: 2 always present features.

No clinical trials have been registered for recurrent Neisseria infections due to factor D deficiency.

6 publications have been identified in PubMed for recurrent Neisseria infections due to factor D deficiency. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (33%), and Basic Science / Preclinical (17%).

Recent Publications

• Bougeard C (2026). [PMID: 41663882](https://pubmed.ncbi.nlm.nih.gov/41663882/). *Eur J Immunol*. [Case Report / Case Series]

• Gélin M (2026). [PMID: 41499460](https://pubmed.ncbi.nlm.nih.gov/41499460/). *J Infect Dis*. [Review / Meta-Analysis]

• Puel M (2025). [PMID: 40071669](https://pubmed.ncbi.nlm.nih.gov/40071669/). *European journal of immunology*. [Case Report / Case Series]

• Tjandra PM (2025). [PMID: 41299720](https://pubmed.ncbi.nlm.nih.gov/41299720/). *Arthritis research & therapy*. [Basic Science / Preclinical]

• Lian S (2025). [PMID: 40905313](https://pubmed.ncbi.nlm.nih.gov/40905313/). *Virulence*. [Review / Meta-Analysis]