SCIDX1 - severe combined immunodeficiency X-linked

disorder

SNOMED 765145001CUI C4707334

Overview

SCIDX1 - severe combined immunodeficiency X-linked 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 immunoglobulin concentration

Very frequent (80-99%)HP:0010701

Absolute lymphocyte count decrease

Very frequent (80-99%)HP:0001888

Decreased mitogen-induced T-cell proliferation

Very frequent (80-99%)HP:0031381

Decreased proportion of CD4-positive T cells

Very frequent (80-99%)HP:0032218

Decreased proportion of naive T cells

Very frequent (80-99%)HP:0031397

Intermittent fever

Very frequent (80-99%)HP:0001954

Pneumonia

Very frequent (80-99%)HP:0002090

Reduced total natural killer cell count

Very frequent (80-99%)HP:0040218

Abnormally low T cell receptor excision circle level

Frequent (30-79%)HP:0031545

Coughing

Frequent (30-79%)HP:0012735

Decreased serum IgG

Frequent (30-79%)HP:0004315

Diarrhea

Frequent (30-79%)HP:0002014

Frequent opportunistic infections

Frequent (30-79%)HP:0005390

Infection in blood stream

Frequent (30-79%)HP:0100806

Low levels of immunoglobulin A

Frequent (30-79%)HP:0002720

Prone to bacterial infection

Frequent (30-79%)HP:0002718

Reduced number of T cells

Frequent (30-79%)HP:0005403

Skin rash

Frequent (30-79%)HP:0000988

Chronic oral thrush

Occasional (5-29%)HP:0009098

Mucocutaneous candidiasis

Occasional (5-29%)HP:0002728

Postnatal failure to thrive

Occasional (5-29%)HP:0001508

Recurrent bacterial skin infections

Occasional (5-29%)HP:0005406

Recurrent cutaneous fungal infections

Occasional (5-29%)HP:0011370

Recurrent H. influenzae infections

Occasional (5-29%)HP:0005376

Recurrent herpes

Occasional (5-29%)HP:0005353

Severe recurrent varicella

Occasional (5-29%)HP:0005428

Small lymph nodes

Occasional (5-29%)HP:0002732

Tonsillar hypoplasia

Occasional (5-29%)HP:0030813

Cancer of lymphatic system

Very rare (1-4%)HP:0002665

Enlarged liver

Very rare (1-4%)HP:0002240

Related Conditions

Disorder of immune structure(parent)

X-linked recessive hereditary disease(parent)

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

Quick Facts

SNOMED CT: 765145001
UMLS CUI: C4707334
Fully Specified Name: T cell negative B cell positive severe combined immunodeficiency due to gamma chain 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.