Combined immunodeficiency due to IL2 inducible T cell kinase deficiency

disorder

SNOMED 1186714005CUI C3552634

Overview

Combined immunodeficiency due to IL2 inducible T cell kinase deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased proportion of CD4-positive T cells

Always present (100%)HP:0032218

Elevated C-reactive protein level

Always present (100%)HP:0011227

Enlarged liver

Always present (100%)HP:0002240

Fluid around lungs

Always present (100%)HP:0002202

Hyperferritinemia

Always present (100%)HP:0003281

Intermittent fever

Always present (100%)HP:0001954

Large spleen

Always present (100%)HP:0001744

Leukopenia

Always present (100%)HP:0001882

Pericardial effusions

Always present (100%)HP:0001698

Persistent EBV viremia

Always present (100%)HP:0020072

Susceptibility to infection

Always present (100%)HP:0002719

Swollen lymph nodes

Always present (100%)HP:0002716

Hodgkin's lymphoma

Very frequent (80-99%)HP:0012189

Autoimmune haemolytic anemia

Frequent (30-79%)HP:0001890

B-cell lymphoma

Frequent (30-79%)HP:0012191

Decreased serum IgG

Frequent (30-79%)HP:0004315

Decreased serum immunoglobulin

Frequent (30-79%)HP:0004313

Idiopathic thrombocytopenic purpura

Frequent (30-79%)HP:0001973

Inflammation of the mouth

Frequent (30-79%)HP:0010280

Lymphoproliferative disorders

Frequent (30-79%)HP:0005523

Pancytopenia

Frequent (30-79%)HP:0001876

Autoimmunity

HP:0002960

Elevated sedimentation rate

HP:0003565

Hemophagocytosis

Excluded (<1%)HP:0012156

Low number of red blood cells or hemoglobin

HP:0001903

Low platelet count

HP:0001873

Related Conditions

Lymphoproliferative disorder(parent)

Combined immunodeficiency disease(parent)

Hereditary neoplastic syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1186714005
UMLS CUI: C3552634
Fully Specified Name: Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.