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Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG subclass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.
Features include always present findings: Absent circulating immunoglobulin kappa chain and Chronic diarrhea; and common findings: Recurrent infections, Recurrent respiratory infections, Asthma, and Recurrent bacterial infections and others. 50 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lungs and breathing | 10 | Recurrent respiratory infections, Asthma, Recurrent lower respiratory tract infections |
Blood and immune system | 9 | Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections |
Digestive system | 4 | Diarrhea, Chronic diarrhea, Viral hepatitis |
Skin | 4 | Atopic dermatitis, Systemic lupus erythematosus, Skin rash |
Bones and joints | 3 | Joint inflammation (arthritis), Arthralgia, Rheumatoid arthritis |
Brain and nerves | 2 | Fatigue, Cerebrospinal fluid rhinorrhoea |
Kidneys and urinary system | 1 | Recurrent urinary tract infections |
Ears | 1 | Recurrent otitis media |
Muscles | 1 | Myalgia |
Hormones | 1 | Diabetes mellitus |
Lab test results | 1 | Decreased specific pneumococcal antibody level |
IGKC encodes immunoglobulin kappa constant (107 aa). Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. Highest expression in Spleen (26,683 TPM) and Minor Salivary Gland (13,358 TPM).
Recurrent infections associated with rare immunoglobulin isotypes deficiency has limited evidence linking it to mutations in the IGKC gene on chromosome 2.
IGKC is classified as a druggable target (Druggable Genome category) with score 0.0.
Genetic testing for IGKC is available. Testing is considered research-grade for diagnosis.
Biomarker and diagnostic research for recurrent infections associated with rare immunoglobulin isotypes deficiency has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 8 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for recurrent infections associated with rare immunoglobulin isotypes deficiency.
19 publications have been identified in PubMed for recurrent infections associated with rare immunoglobulin isotypes deficiency. Research spans Review / Meta-Analysis (32%), Epidemiology / Natural History (32%), and Case Report / Case Series (16%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 6 | 32% |
Disease patterns and progression | 6 | 32% |
Patient case studies | 3 | 16% |
Clinical study results | 2 | 11% |
Testing and diagnosis research | 1 | 5% |
Laboratory research | 1 | 5% |
Yegin Katran Z (2026). [PMID: 41841266](https://pubmed.ncbi.nlm.nih.gov/41841266/). *J Asthma*. [Epidemiology / Natural History]
Petersen AG (2026). [PMID: 41087302](https://pubmed.ncbi.nlm.nih.gov/41087302/). *Clin Otolaryngol*. [Diagnostic / Biomarker]
Hlongwa L (2026). [PMID: 41692833](https://pubmed.ncbi.nlm.nih.gov/41692833/). *Sci Rep*. [Basic Science / Preclinical]
Lewandrowski C (2026). [PMID: 41451820](https://pubmed.ncbi.nlm.nih.gov/41451820/). *Curr Opin Allergy Clin Immunol*. [Review / Meta-Analysis]
Zygadło J (2026). [PMID: 41482727](https://pubmed.ncbi.nlm.nih.gov/41482727/). *Pediatr Allergy Immunol*. [Review / Meta-Analysis]
Ural Z (2025). [PMID: 40464874](https://pubmed.ncbi.nlm.nih.gov/40464874/). *CEN Case Rep*. [Case Report / Case Series]
Chen X (2025). [PMID: 40948744](https://pubmed.ncbi.nlm.nih.gov/40948744/). *Front Immunol*. [Case Report / Case Series]
Suárez-Cuartín G (2025). [PMID: 41517428](https://pubmed.ncbi.nlm.nih.gov/41517428/). *J Clin Med*. [Review / Meta-Analysis]
Burnim M (2025). [PMID: 39441116](https://pubmed.ncbi.nlm.nih.gov/39441116/). *Am J Respir Crit Care Med*. [Epidemiology / Natural History]
Dogru D (2025). [PMID: 40313941](https://pubmed.ncbi.nlm.nih.gov/40313941/). *Front Immunol*. [Epidemiology / Natural History]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center