Recurrent infections associated with rare immunoglobulin isotypes deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: KAPPA CHAIN DEFICIENCY
IGKCD
Isolated IgG subclass deficiency
IgG subclass deficiency with IgA subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
Number of Symptoms 6
OrphanetNr: 183675
OMIM Id: 614102
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0002028) Chronic diarrhea 51 / 7739
2
 (HPO:0002014) Diarrhea rare [HPO:skoehler] 225 / 7739
3
 (HPO:0010701) Abnormal immunoglobulin level 49 / 7739
4
 (HPO:0002719) Recurrent infections rare [HPO:skoehler] 107 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
 (OMIM) Immunoglobulin kappa light chain deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a female offspring of an uncle-niece marriage, Bernier et al. (1972) observed deficient synthesis of kappa chain-bearing immunoglobulins. She also had recurrent respiratory infections and diarrhea.

Zegers et al. (1976) observed complete absence of immunoglobulin ...
Molecular genetics OMIM Stavnezer-Nordgren et al. (1985) studied the molecular basis of complete kappa chain deficiency in the patient reported by Zegers et al. (1976). They identified compound heterozygosity for 2 point mutations in the IGKC gene, resulting in loss of ...