Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency

disorder

SNOMED 716378008CUI C2931299

Overview

Combined immunodeficiency due to Zeta-chain associated protein kinase 70 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.

Impaired lymphocyte transformation with phytohemagglutinin

Always present (100%)HP:0003347

Pneumocystis carinii pneumonia

Always present (100%)HP:0020102

Recurrent candida infections

Always present (100%)HP:0005401

respiratory infections, recurrent

Always present (100%)HP:0002205

Decreased mitogen-induced T-cell proliferation

Very frequent (80-99%)HP:0031381

Frequent opportunistic infections

Very frequent (80-99%)HP:0005390

Recurrent bacterial infections

Very frequent (80-99%)HP:0002718

Recurrent viral infections

Very frequent (80-99%)HP:0004429

Absence of CD8-positive T cells

Frequent (30-79%)HP:0005422

Chronic diarrhoea

Frequent (30-79%)HP:0002028

Chronic oral thrush

Frequent (30-79%)HP:0009098

Decreased proportion of CD8-positive T cells

Frequent (30-79%)HP:0005415

Poor weight gain

Frequent (30-79%)HP:0001508

Recurrent infection of the GI tract

Frequent (30-79%)HP:0004798

Recurrent upper and lower respiratory tract infections

Frequent (30-79%)HP:0200117

Abnormal lymph node histology

Occasional (5-29%)HP:0002733

Cerebral vascular events

Occasional (5-29%)HP:0001297

Colitis

Occasional (5-29%)HP:0002583

Eosinophilia

Occasional (5-29%)HP:0001880

Gingivostomatitis

Occasional (5-29%)HP:0010280

Hepatosplenomegaly

Occasional (5-29%)HP:0001433

Increased total lymphocyte count

Occasional (5-29%)HP:0100827

Inflammation of the lymph nodes

Occasional (5-29%)HP:0002840

Lymph node hyperplasia

Occasional (5-29%)HP:0002716

Mucocutaneous candidiasis

Occasional (5-29%)HP:0002728

Nephrosis

Occasional (5-29%)HP:0000100

Recurrent bacterial skin infections

Occasional (5-29%)HP:0005406

Recurrent mycobacterial infections

Occasional (5-29%)HP:0011274

Skin rash

Occasional (5-29%)HP:0000988

Autoimmune haemolytic anemia

Very rare (1-4%)HP:0001890

Related Conditions

Autosomal recessive severe combined immunodeficiency disease(parent)

Quick Facts

SNOMED CT: 716378008
UMLS CUI: C2931299
Fully Specified Name: Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.