Severe combined immunodeficiency due to LAT (linker for activation of T cells) deficiency

disorder

SNOMED 1179284005CUI C4479588

Overview

Severe combined immunodeficiency due to LAT (linker for activation of T cells) 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.

Abnormal T cell proliferation

Always present (100%)HP:0031379

Increased gamma-delta T cell proportion

Always present (100%)HP:0500270

Large spleen

Always present (100%)HP:0001744

Low levels of immunoglobulin A

Always present (100%)HP:0002720

Multiple pulmonary infections

Always present (100%)HP:0006532

Persistent CMV viremia

Always present (100%)HP:0032247

Reduced number of T cells

Always present (100%)HP:0005403

Susceptibility to infection

Always present (100%)HP:0002719

Swollen lymph nodes

Always present (100%)HP:0002716

Absolute lymphocyte count decrease

Frequent (30-79%)HP:0001888

Bronchiectasis

Frequent (30-79%)HP:0002110

Chronic lung disease

Frequent (30-79%)HP:0006528

Decreased proportion of CD4-positive T cells

Frequent (30-79%)HP:0032218

Decreased serum immunoglobulin

Frequent (30-79%)HP:0004313

Direct Coombs positive

Frequent (30-79%)HP:0004844

Idiopathic thrombocytopenic purpura

Frequent (30-79%)HP:0001973

Persistent EBV viremia

Frequent (30-79%)HP:0020072

Undergrowth

Frequent (30-79%)HP:0001508

Abnormal number of B cells

Excluded (<1%)HP:0010975

Abnormal total natural killer cell count

Excluded (<1%)HP:0040089

Immune deficiency

HP:0002721

Unregulated immune response

HP:0002958

Related Conditions

Autosomal recessive severe combined immunodeficiency disease(parent)

T-B+ SCID - T-cell negative B-cell positive severe combined immunodeficiency(parent)

Quick Facts

SNOMED CT: 1179284005
UMLS CUI: C4479588
Fully Specified Name: Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.