CTLA-4 haploinsufficiency with autoimmune infiltration disease

disorder

SNOMED 1197361002CUI C4015214

Overview

CTLA-4 haploinsufficiency with autoimmune infiltration disease 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.

Absolute lymphocyte count decrease

Very frequent (80-99%)HP:0001888

Decreased circulating immunoglobulin concentration

Very frequent (80-99%)HP:0004313

Allergy

Frequent (30-79%)HP:0012393

Autoimmune haemolytic anemia

Frequent (30-79%)HP:0001890

Baby eczema

Frequent (30-79%)HP:0001047

Decreased circulating total IgM

Frequent (30-79%)HP:0002850

Decreased serum IgG

Frequent (30-79%)HP:0004315

Diarrhea

Frequent (30-79%)HP:0002014

Enlarged liver

Frequent (30-79%)HP:0002240

Immune thrombocytopenia

Frequent (30-79%)HP:0001973

Large spleen

Frequent (30-79%)HP:0001744

Low levels of immunoglobulin A

Frequent (30-79%)HP:0002720

Pneumonia

Frequent (30-79%)HP:0002090

Recurrent chest infections

Frequent (30-79%)HP:0002783

Recurrent URI

Frequent (30-79%)HP:0002788

Swollen lymph nodes

Frequent (30-79%)HP:0002716

Arthritis

Occasional (5-29%)HP:0001369

Bronchiectasis

Occasional (5-29%)HP:0002110

Cancer of lymphatic system

Occasional (5-29%)HP:0002665

Chronic atrophic gastritis

Occasional (5-29%)HP:0002582

Crohn's disease

Occasional (5-29%)HP:0100280

Dermatitis

Occasional (5-29%)HP:0000964

Growth deficiency

Occasional (5-29%)HP:0001510

Infection in blood stream

Occasional (5-29%)HP:0100806

Inflammatory bowel disease

Occasional (5-29%)HP:0002037

Lymphocytic infiltration of the colorectal mucosa

Occasional (5-29%)HP:0032216

Neutropenia in presence of anti-neutropil antibodies

Occasional (5-29%)HP:0001904

Psoriasis

Occasional (5-29%)HP:0003765

Recurrent candida infections

Occasional (5-29%)HP:0005401

Thyroid gland inflammation

Occasional (5-29%)HP:0100646

Related Conditions

Autosomal dominant hereditary disorder(parent)

Autoimmune lymphoproliferative syndrome(parent)

Autoimmune disease(parent)

Quick Facts

SNOMED CT: 1197361002
UMLS CUI: C4015214
Fully Specified Name: Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency (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.