Autosomal recessive SCID (severe combined immunodeficiency disease)
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Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder)
Severe combined immunodeficiency due to IKK2 deficiency
Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency
A rare genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present. There is evidence the disease is caused by homozygous mutation in the IKBKB gene on chromosome 8p11.
ernstige gecombineerde immunodeficiëntie door deficiëntie van inhibitor van 'nuclear factor kappa B kinase subunit beta'
ernstige gecombineerde immunodeficiëntie door IKBKB-deficiëntie
Id782751003
StatusPrimitive
Finding siteBody system structure
OccurrenceCongenital
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD81.2
RuleTRUE
AdviceALWAYS D81.2
CorrelationSNOMED CT source code to target map code correlation not specified