Combined immunodeficiency due to LRBA deficiency

disorder

SNOMED 1197477000CUI C3553512

Overview

Combined immunodeficiency due to LRBA 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.

Chronic neutropenia

Always present (100%)HP:0410252

Decreased class-switched memory B cell proportion

Always present (100%)HP:0030388

Erythema nodosum

Always present (100%)HP:0012219

Generalized lymphadenopathy

Always present (100%)HP:0008940

Infection in blood stream

Always present (100%)HP:0100806

Low platelet count

Always present (100%)HP:0001873

Pneumonia

Always present (100%)HP:0002090

respiratory infections, recurrent

Always present (100%)HP:0002205

Susceptibility to infection

Always present (100%)HP:0002719

Decreased circulating total IgM

Very frequent (80-99%)HP:0002850

Large spleen

Very frequent (80-99%)HP:0001744

Atrophy of small intestinal villi

Frequent (30-79%)HP:0011473

Autoimmune haemolytic anemia

Frequent (30-79%)HP:0001890

B cell lymphopenia

Frequent (30-79%)HP:0010976

Bronchiectasis

Frequent (30-79%)HP:0002110

Chronic diarrhoea

Frequent (30-79%)HP:0002028

Chronic lung disease

Frequent (30-79%)HP:0006528

Decreased serum IgG

Frequent (30-79%)HP:0004315

Decreased specific antibody response to vaccination

Frequent (30-79%)HP:0032140

Growth failure

Frequent (30-79%)HP:0001510

Idiopathic thrombocytopenic purpura

Frequent (30-79%)HP:0001973

Low levels of immunoglobulin A

Frequent (30-79%)HP:0002720

Recurrent middle ear infection

Frequent (30-79%)HP:0000403

Type I diabetes mellitus

Frequent (30-79%)HP:0100651

Arthritis

Occasional (5-29%)HP:0001369

Blotchy loss of skin colour

Occasional (5-29%)HP:0001045

Bronchial asthma

Occasional (5-29%)HP:0002099

Cancer of lymphatic system

Occasional (5-29%)HP:0002665

Chronic atrophic gastritis

Occasional (5-29%)HP:0002582

Clubbing of fingers

Occasional (5-29%)HP:0100759

Related Conditions

Combined immunodeficiency disease(parent)

Autoimmune disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1197477000
UMLS CUI: C3553512
Fully Specified Name: Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein 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.