Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

IMMUNODEFICIENCY 67
Synonyms

IPD

INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED

IRAK4 DEFICIENCY

INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST

IMD67

IKAK4D
ID

http://purl.bioontology.org/ontology/OMIM/607676
altLabel

IPD

INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED

IRAK4 DEFICIENCY

INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST

IMD67

IKAK4D
cui

C1843256

C1970686
Gene Locus

12q12
Gene Symbol

IMD67

REN64

IPD1

IRAK4
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001686

http://purl.bioontology.org/ontology/OMIM/MTHU044811

http://purl.bioontology.org/ontology/OMIM/MTHU068575

http://purl.bioontology.org/ontology/OMIM/MTHU068579

http://purl.bioontology.org/ontology/OMIM/MTHU068580

http://purl.bioontology.org/ontology/OMIM/MTHU044794

http://purl.bioontology.org/ontology/OMIM/MTHU068577

http://purl.bioontology.org/ontology/OMIM/MTHU068586

http://purl.bioontology.org/ontology/OMIM/MTHU068583

http://purl.bioontology.org/ontology/OMIM/MTHU024710

http://purl.bioontology.org/ontology/OMIM/MTHU068584

http://purl.bioontology.org/ontology/OMIM/MTHU043670

http://purl.bioontology.org/ontology/OMIM/MTHU068581

http://purl.bioontology.org/ontology/OMIM/MTHU068574

http://purl.bioontology.org/ontology/OMIM/MTHU068582

http://purl.bioontology.org/ontology/OMIM/MTHU068576

http://purl.bioontology.org/ontology/OMIM/MTHU068578

http://purl.bioontology.org/ontology/OMIM/MTHU068585
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

610799
notation

607676
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

IMMUNODEFICIENCY 67
Scope Statement

High death rate before age 8 years [MISCELLANEOUS]

Caused by mutation in the interleukin 1 receptor-associated kinase 4 gene (IRAK4, 606883.0001) [MOLECULAR BASIS]

Bacterial meningitis is often an initial infection [MISCELLANEOUS]

The disease tends to abate with age [MISCELLANEOUS]

Onset in infancy or early childhood [MISCELLANEOUS]

Treatment with IVIg or prophylactic antibiotics may be beneficial [MISCELLANEOUS]
tui

T047

T033
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