Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: IRAK4D
IRAK4 deficiency
Number of Symptoms 4
OrphanetNr: 70592
OMIM Id: 607676
ICD-10: D84.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 15 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic susceptibility to infections due to particular pathogens
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
2
(HPO:0100763) Abnormality of the lymphatic system Very frequent [Orphanet] 18 / 7739
3
(HPO:0002721) Immunodeficiency 97 / 7739
4
(HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) IRAK4 deficiency is an autosomal recessive primary immunodeficiency that impairs Toll (see TLR4; 603030)/IL1R (see IL1R1; 147810) immunity, except for the TLR3 (603029)- and TLR4-interferon-alpha (IFNA; 147660)/beta (IFNB; 147640) pathways (Ku et al., 2007).
Clinical Description OMIM Picard et al. (2003) described 3 unrelated children with recurrent infections and poor inflammatory response in whom extracellular, pyogenic bacteria were the only microorganisms responsible for infection. Gram-positive Streptococcus pneumoniae and Staphylococcus aureus were the most frequently found ...
Molecular genetics OMIM Picard et al. (2003) found that all 3 patients with pyogenic bacterial infections were homozygous for a mutation in the IRAK4 gene (see 606883.0001-606883.0002) and that in each case the mutations were associated with complete deficiency for the ...