Major histocompatibility complex class II deficiency

disorder

SNOMED 191002000CUI C2931418

Overview

Major histocompatibility complex class II 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.

Reduced MHC II cell surface expression

Always present (100%)HP:0031390

Absent cellular immunity

Very frequent (80-99%)HP:0005354

Recurrent infection of the GI tract

Very frequent (80-99%)HP:0004798

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Decreased circulating beta-2-microglobulin level

Frequent (30-79%)HP:0025347

Decreased circulating immunoglobulin concentration

Frequent (30-79%)HP:0004313

Decreased proportion of CD4-positive T cells

Frequent (30-79%)HP:0032218

Defective humoral immunity

Frequent (30-79%)HP:0005368

Diarrhea

Frequent (30-79%)HP:0002014

Fibrous cholangitis

Frequent (30-79%)HP:0030991

Hepatitis, chronic, due to cryptosporidium infection

Frequent (30-79%)HP:0200124

Mucocutaneous candidiasis

Frequent (30-79%)HP:0002728

Protracted diarrhea

Frequent (30-79%)HP:0004385

Recurrent candida infections

Frequent (30-79%)HP:0005401

Recurrent herpes

Frequent (30-79%)HP:0005353

Recurrent protozoan infections

Frequent (30-79%)HP:0005386

Rhinitis

Frequent (30-79%)HP:0012384

Sinusitis

Frequent (30-79%)HP:0000246

Staphylococcus aureus infections, recurrent

Frequent (30-79%)HP:0002726

Undergrowth

Frequent (30-79%)HP:0001508

Abnormal CD4:CD8 ratio

Occasional (5-29%)HP:0031394

Acute middle ear infection

Occasional (5-29%)HP:0000371

Autoimmune disorder

Occasional (5-29%)HP:0002960

Autoimmune haemolytic anemia

Occasional (5-29%)HP:0001890

Decreased mitogen-induced T-cell proliferation

Occasional (5-29%)HP:0031381

Immune thrombocytopenia

Occasional (5-29%)HP:0001973

Neutropenia in presence of anti-neutropil antibodies

Occasional (5-29%)HP:0001904

Neutropoenia

Occasional (5-29%)HP:0001875

Pancytopenia

Occasional (5-29%)HP:0001876

Reduced number of T cells

Occasional (5-29%)HP:0005403

Related Conditions

Major histocompatibility complex class II deficiency due to RFXAP mutation(child)

Immunodeficiency by defective expression of major histocompatibility complex class II due to class II major histocompatibility complex transactivator mutation(child)

Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated ankyrin containing protein mutation(child)

Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X5 mutation(child)

Combined immunodeficiency disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 191002000
UMLS CUI: C2931418
Fully Specified Name: Immunodeficiency by defective expression of major histocompatibility complex class II (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.