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Chronic granulomatous disease

disorder
SNOMED 387759001CUI C0018203

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Granulomatous Disease, Chronic" from the MEDLINE/PubMed database.

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Efficacy and Safety of Interferon-Gamma in Chronic Granulomatous Disease: a Systematic Review and Meta-analysis.
[object Object], [object Object], [object Object] et al. · J Clin Immunol · 2023
PMID: 36385358Meta-Analysis
"Oral Manifestations of Patients with Inherited Defect in Phagocyte Number or Function" a systematic review.
[object Object], [object Object], [object Object] et al. · Clin Immunol · 2021
PMID: 34271191Meta-Analysis
COVID-19 mimics on chest CT: a pictorial review and radiologic guide.
[object Object], [object Object], [object Object] et al. · Br J Radiol · 2021
PMID: 33296607Meta-AnalysisFull text (PMC)
Nocardiosis Associated with Primary Immunodeficiencies (Nocar-DIP): an International Retrospective Study and Literature Review.
[object Object], [object Object], [object Object] et al. · J Clin Immunol · 2020
PMID: 32920680Meta-Analysis
Chronic granulomatous disease as an SOS call for multicenter cooperative effort to prevent infections: A meta-analysis of the treatments.
[object Object], [object Object], [object Object] et al. · Ann Allergy Asthma Immunol · 2016
PMID: 27613462Meta-Analysis
The BTNL2 G16071A gene polymorphism increases granulomatous disease susceptibility: A meta-analysis including FPRP test of 8710 participants.
[object Object], [object Object], [object Object] et al. · Medicine (Baltimore) · 2016
PMID: 27472712Meta-AnalysisFull text (PMC)
Invasive fungal infections in patients with chronic granulomatous disease.
[object Object], [object Object], [object Object] et al. · Adv Exp Med Biol · 2013
PMID: 23654055Meta-Analysis
Non-Aspergillus fungal infections in chronic granulomatous disease.
[object Object], [object Object], [object Object] · Mycoses · 2013
PMID: 23369076Meta-Analysis
Osteomyelitis due to Aspergillus species in chronic granulomatous disease: an update of the literature.
[object Object], [object Object] · Mycoses · 2011
PMID: 21615532Meta-Analysis
Increased production of nitric oxide by neutrophils from patients with chronic granulomatous disease on interferon-gamma treatment.
[object Object], [object Object], [object Object] et al. · Int Immunopharmacol · 2012
PMID: 22330085RCT

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal connection between trachea and esophagus
Very frequent (80-99%)HP:0002575
Abnormality of neutrophils
Very frequent (80-99%)HP:0001874
COPD
Very frequent (80-99%)HP:0006510
Cutaneous photosensitivity
Very frequent (80-99%)HP:0000992
Enlarged liver
Very frequent (80-99%)HP:0002240
Flat, discolored area of skin
Very frequent (80-99%)HP:0012733
Hyperpigmented macules
Very frequent (80-99%)HP:0001034
Infantile hypertrophic pyloric stenosis
Very frequent (80-99%)HP:0002021
Intestinal malabsorption
Very frequent (80-99%)HP:0002024
Otitis media
Very frequent (80-99%)HP:0000388
Pyrexia
Very frequent (80-99%)HP:0001945
respiratory infections, recurrent
Very frequent (80-99%)HP:0002205
Sinusitis
Very frequent (80-99%)HP:0000246
Swollen lymph nodes in centre of chest
Very frequent (80-99%)HP:0100721
Eczema
Occasional (5-29%)HP:0000964
Infection in blood stream
Occasional (5-29%)HP:0100806
Inflammatory abnormality of the eye
Occasional (5-29%)HP:0100533
Large spleen
Occasional (5-29%)HP:0001744
Liver abscess
Occasional (5-29%)HP:0100523
Meningitis
Occasional (5-29%)HP:0001287
Open skin sore
Occasional (5-29%)HP:0200042
Red and swollen gums
Occasional (5-29%)HP:0000230

Quick Facts

SNOMED CT
387759001
UMLS CUI
C0018203
Fully Specified Name
Chronic granulomatous disease (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
22
Clinical Trials
7
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.