INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1

General Information (adopted from Orphanet):

Synonyms, Signs: IPD1 INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST, INCLUDED
Number of Symptoms 2
OrphanetNr:
OMIM Id: 610799
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005366) Recurrent streptococcus pneumoniae infections 16950813 IBIS 3 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Recurrent invasive pneumococcal disease (IPD) is defined as 2 episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains (Ku et al., 2007). Recurrent IPD occurs in at least ...
Clinical Description OMIM Ku et al. (2007) described 2 otherwise healthy children with isolated recurrent IPD as the only clinical infectious manifestation of an inherited disorder in nuclear factor kappa-B (see 164011)-dependent immunity. One was found to carry a hemizygous mutation ...
Molecular genetics OMIM In a 7-year-old boy born of unrelated Hungarian parents, Ku et al. (2007) found that recurrent invasive pneumococcal disease (IPD1; 610799) was related to compound heterozygosity for 2 mutations in the IRAK4 gene, located in the intron between ...