A Doença Granulomatosa Crônica (DGC) é uma imunodeficiência primária rara, que afeta principalmente os fagócitos (células de defesa do corpo). Ela se caracteriza por uma maior facilidade em desenvolver infecções graves e que se repetem, causadas por bactérias e fungos, além do surgimento de granulomas (pequenas inflamações ou nódulos).
Introdução
O que você precisa saber de cara
A doença granulomatosa crônica é um distúrbio que faz com que o sistema imunológico funcione de forma inadequada, resultando em uma forma de imunodeficiência. Imunodeficiências são condições nas quais o sistema imunológico não consegue proteger o corpo de invasores externos, como bactérias e fungos. Indivíduos com doença granulomatosa crônica podem ter infecções bacterianas e fúngicas recorrentes. Pessoas com essa condição também podem apresentar áreas de inflamação (granulomas) em vários tecidos, o que pode causar dano a esses tecidos. As características da doença granulomatosa crônica geralmente aparecem pela primeira vez na infância, embora alguns indivíduos não apresentem sintomas até mais tarde na vida.
Pessoas com doença granulomatosa crônica tipicamente apresentam pelo menos uma infecção bacteriana ou fúngica grave a cada 3 a 4 anos. Os pulmões são a área de infecção mais frequente; a pneumonia é uma característica comum dessa condição. Indivíduos com doença granulomatosa crônica podem desenvolver um tipo de pneumonia fúngica, chamada pneumonite por mulch (mulch pneumonitis), que causa febre e falta de ar após a exposição a materiais orgânicos em decomposição, como composto, feno ou folhas mortas. A exposição a esses materiais orgânicos e aos numerosos fungos envolvidos em sua decomposição faz com que pessoas com doença granulomatosa crônica desenvolvam infecções fúngicas nos pulmões. Outras áreas comuns de infecção em pessoas com doença granulomatosa crônica incluem a pele, o fígado e os linfonodos.
A inflamação pode ocorrer em muitas áreas diferentes do corpo em pessoas com doença granulomatosa crônica. Mais comumente, os granulomas aparecem no trato gastrointestinal e no trato geniturinário. Em muitos casos, a parede intestinal está inflamada, causando uma forma de doença inflamatória intestinal que varia em gravidade, mas pode levar a dor abdominal, diarreia, fezes com sangue, náuseas e vômitos. Outras áreas comuns de inflamação em pessoas com doença granulomatosa crônica incluem o estômago, o cólon e o reto, bem como a boca, a garganta e a pele. Além disso, os granulomas dentro do trato gastrointestinal podem levar à degradação do tecido e à produção de pus (abscessos). A inflamação no estômago pode impedir que o alimento passe para os intestinos (obstrução da saída gástrica), levando à incapacidade de digerir os alimentos. Esses problemas digestivos causam vômitos após as refeições e perda de peso. No trato geniturinário, a inflamação pode ocorrer nos rins e na bexiga. A inflamação dos linfonodos (linfadenite) e da medula óssea (osteomielite), que ambos produzem células imunológicas, pode levar a um comprometimento adicional do sistema imunológico.
Raramente, pessoas com doença granulomatosa crônica desenvolvem distúrbios autoimunes, que ocorrem quando o sistema imunológico funciona de forma inadequada e ataca os próprios tecidos e órgãos do corpo.
Episódios repetidos de infecção e inflamação reduzem a expectativa de vida de indivíduos com doença granulomatosa crônica; porém, com tratamento, a maioria das pessoas afetadas vive até a meia‑idade ou fase avançada da vida adulta.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoA Doença Granulomatosa Crônica (DGC) é uma imunodeficiência primária rara, que afeta principalmente os fagócitos (células de defesa do corpo). Ela se caracteriza por uma maior facilidade em desenvolver infecções graves e que se repetem, causadas por bactérias e fungos, além do surgimento de granulomas (pequenas inflamações ou nódulos).
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 34 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 84 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive, X-linked recessive.
Granulomatous disease, chronic, autosomal recessive, 2
A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.
Granulomatous disease, chronic, autosomal recessive, 5
A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. CGD5 is an autosomal recessive form characterized by onset of recurrent infections and severe colitis in the first decade of life. Clinical manifestations include increased susceptibility to catalase-positive organisms, features of inflammatory bowel disease, lymphopenia, lymphadenitis, and autoinflammatory symptoms in some patients.
Granulomatous disease, chronic, autosomal recessive, 4
A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.
Granulomatous disease, chronic, autosomal recessive, 3
A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.
Granulomatous disease, chronic, X-linked
A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.
Granulomatous disease, chronic, autosomal recessive, 1
A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
322 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 195 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
10 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença granulomatosa crônica
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Com ensaio aberto em 8 países. O ponto verde marca onde há vaga agora.
🟢 Recrutando agora
16 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
77 ensaios clínicos encontrados, 23 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.331
Excellent Outcome of 1-Day Nonmyeloablative Salvage Regimen for Pediatric Patients with Graft Failure following Haploidentical Hematopoietic Stem Cell Transplantation.
Haploidentical (haplo-) hematopoietic stem cell transplantation (HSCT) has been increasingly used as an alternative transplantation strategy for patients lacking a suitable HLA-matched donor. T cell depletion reduces the risk of graft-versus-host disease (GVHD) but at a cost of increased risk of graft failure, necessitating immediate retransplantation if a cryopreserved autologous graft is not available for rescue. Traditional high-intensity reconditioning with myeloablative and immunoablative regimens of approximately 1 week's duration aimed at further suppressing the recipient-derived immune system capable of rejecting the primary graft, is associated with high morbidity and mortality. A shortened and reduced-intensity conditioning regimen might reduce infection risk and mortality, but sustained engraftment would be a concern with lowered intensity. Here we report the excellent outcomes of 11 pediatric patients who received a 1-day reduced-intensity preparative regimen prior to retransplantation for graft failure following initial myeloablative haplo-HSCT for various malignant and nonmalignant disease conditions. This was a retrospective study conducted at the Hong Kong Children's Hospital, the sole territory-wide pediatric HSCT center in Hong Kong. All pediatric patients who were age ≤18 years at the time of initial haplo-HSCT and subsequently underwent salvage haplo-HSCT with a 1-day nonmyeloablative salvage regimen owing to graft failure between June 1, 2021, and May 31, 2024, were included. The salvage regimen consisted of fludarabine (30 mg/m2), cyclophosphamide (2000 mg/m2 or 60 mg/kg), and alemtuzumab (0.3 mg/kg), with or without total body irradiation (2 Gy), all administered 1 day before retransplantation. G-CSF-mobilized peripheral blood stem cells (PBSCs) were collected and transplanted fresh without ex vivo T cell depletion whenever possible, while cryopreserved PBSCs were used if fresh apheresis was not possible. GVHD prophylaxis consisted of cyclosporine, mycophenolate mofetil, tacrolimus, or sirolimus. A total of 11 patients were recruited, including 9 males and 2 females, with a median age of 8.8 years (range, 2.4 to 17.5 years). Underlying diseases included transfusion-dependent anemias (n = 7; beta-thalassemia major = 4, hemoglobin Hammersmith = 1, pyruvate kinase deficiency = 1, severe aplastic anemia = 1), chronic granulomatous disease (n = 1), acute lymphoblastic leukemia (n = 1), post-liver transplant lymphoproliferative disease (n = 1) and neuroblastoma (n = 1). The median interval between haplo-HSCT and administration of the 1-day regimen was 26 days (range, 18 to 50 days). Fresh PBSC grafts were used in 9 patients, and cryopreserved PBSC grafts were used in 2 patients. Median cell viability was 99.6%, with a median stem cell dose of 7.2 × 106 CD34+ cells/kg (range, 4.81 to 20.6 × 106 cells/kg) and a median total nucleated cell (TNC) dose of 8.0 × 108/kg (range, 5.17 to 10 × 108/kg). All 9 patients with fresh PBSC grafts demonstrated sustained engraftment and hematopoietic recovery. The median times to neutrophil and platelet engraftment were day +12 (range, days 10 to 19) and day +16 (range, days 10 to 35), respectively. No patient developed grade III/IV acute GVHD or severe chronic GVHD. Both patients with cryopreserved PBSC grafts experienced another graft failure, but 1 of them was successfully salvaged with another 1-day regimen using a fresh PBSC graft, and the other had autologous regeneration and underwent successful haplo-HSCT again from the same donor after full myeloablative conditioning. Overall survival for all 11 patients was 100% at a median follow-up of 35 months (range, 18 to 52 months). To conclude, local experience suggests that the modified 1-day reduced-intensity regimen in combination with fresh but not cryopreserved PBSC grafts is a feasible and promising approach to achieving sustained engraftment and is safe and appropriate for salvaging pediatric patients with graft failure requiring immediate retransplantation.
Umbilical Cord Blood Transplantation Provides an Alternative for Patients With Chronic Granulomatous Disease Lacking HLA-Matched Donors: A PIDTC Report.
Allogeneic hematopoietic cell transplantation corrects the phagocytic defect in patients with chronic granulomatous disease (CGD) and resolves infection risk and immune dysregulation. Umbilical cord blood transplantation (UCBT) is an option for patients lacking suitable HLA-matched bone marrow or peripheral blood stem cell donors. However, information related to UCBT for CGD is limited to a few small case series and limited subsets of larger cohorts where detailed information is lacking. To describe UCBT procedures and outcomes in patients with CGD. Thirty-nine patients with CGD who underwent UCBT at Primary Immune Deficiency Treatment Consortium (PIDTC) centers between 2001 and 2019 were included. All patients were male, and most (97%) had X-linked CGD due to pathogenic variants in CYBB. High infection burden (1.72/person years) and inflammatory disease (38%) were common in the year pre-UCBT. Median age at receipt of UCBT was 2.1 (range 0.3-14.0) years. Most (87%) patients received UCB from unrelated donors, and most (72%) patients received busulfan and cyclophosphamide-based conditioning. All but two (95%) patients received serotherapy with anti-thymocyte globulin or alemtuzumab. Neutrophil and platelet recovery occurred at a median of 18 (range 12-46) and 38 (range 21-186) days, respectively. Nine patients experienced early graft failure [donor myeloid chimerism <10% or receipt of second hematopoietic cell transplantation (HCT) within 100 days] for a cumulative incidence of 23.1% (95% CI 11.3-37.3). There were no cases of late graft failure (after 100 days), and median whole blood and myeloid donor chimerism of engrafted patients were >95% at all time points. One of the nine patients with early graft failure had autologous reconstitution. The remaining 8 patients underwent repeat HCT; six of the patients survived and achieved durable myeloid engraftment on long-term follow-up. Twenty-eight patients were alive at a median follow-up of 4.28 (IQR 2.66-6.08) years. Estimated 3-year overall and event-free survival were 73.7% (95% CI 56.5-84.9) and 56.2% (95% CI 39.3-70.1), respectively. No identifiable factors, including history of infection or inflammatory disease in the year prior to UCBT, year of UCBT, age at UCBT, conditioning regimen, cell dose, and recipient and donor HLA match, were associated with graft failure or survival. Infections decreased with time post-UCBT and pre-existing inflammatory disease resolved in all surviving patients CONCLUSIONS: UCBT for CGD is associated with high rates of early graft failure. Nevertheless, UCBT can provide an effective alternative for CGD patients when HLA-matched donors are not available with resolution of disease. Strategies to overcome high rates of early graft failure while optimizing conditioning regimens to minimize toxicity are needed.
Case report: a case of CYBB gene variant in X-linked chronic granulomatous disease.
A twin with a novel pathogenic variant in CYBB induced X-linked chronic granulomatous disease: a rare case report of misdiagnosis as congenital cystic lung disease.
Chronic Granulomatous Disease Presenting with Recurrent Ascites and Primary Peritonitis.
Publicações recentes
Leukocyte Adhesion Deficiency in a 42-Day-Old Infant: A Case Report.
The Nox2 NADPH oxidase regulates neutrophilic inflammation in the oral cavity.
First review of chronic granulomatous disease in Palestine: clinical and genetic characteristics.
Strain-specific persistence of Burkholderia cenocepacia in the C3HeB/FeJ mouse model of pulmonary infection.
A Unique NCF2 Mutation in Chronic Granulomatous Disease: Clinical and Computational Insights into NADPH Oxidase Dysfunction.
📚 EuropePMC2.355 artigos no totalmostrando 196
Peripheral Nerve Ultrasound Findings in Leprosy: A Scoping Review of Echogenicity, Cross-Sectional Area, and Vascularization Across 15 Studies.
Clinical, cosmetic and investigational dermatologyCase report: a case of CYBB gene variant in X-linked chronic granulomatous disease.
BMC pediatricsChronic granulomatous disease with suspected secondary hemophagocytic lymphohistiocytosis: a case report and hypothesis-generating rationale for neuroimmune modulation.
Critical care (London, England)The New Wave of Gene and Cell Therapies Across Diseases.
Journal of clinical medicineCerebral amebiasis due to Acanthamoeba sp. in a patient with complete gp91 phox deficiency.
Journal of human immunityNovel indications for hematopoietic stem cell transplantation in inborn errors of immunity.
Expert review of clinical immunologyHigh-Resolution Ultrasonography for Detecting Peripheral Neuropathy in Leprosy: A Systematic Review and Meta-Analysis.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyIdentification of a novel hypomorphic variant in CYBB underlying an adult presentation of X-linked recessive Mendelian susceptibility to mycobacterial disease.
Clinical immunology (Orlando, Fla.)A Multifactorial Presentation of Infection and Thrombosis: Temporal Clustering of Pneumonia, Hepatic Abscess, Bilateral Deep Vein Thromboses (DVTs), and Appendicitis in a Child.
CureusVertebral Aspergillus Osteomyelitis Mimicking Tuberculosis in an Adolescent With Chronic Granulomatous Disease.
The Pediatric infectious disease journalCharacteristics of monogenic inflammatory bowel disease in very early-onset cases: a Japanese multicenter registry study.
Intestinal researchColonic Malakoplakia With an Adenomatous Appearance on Magnification Endoscopy: A Case Report.
DEN openHuman infections caused by pathogenic Burkholderia: current clinical challenges and future perspectives.
InfectionA twin with a novel pathogenic variant in CYBB induced X-linked chronic granulomatous disease: a rare case report of misdiagnosis as congenital cystic lung disease.
BMC pediatricsOptimizing the diagnosis of chronic granulomatous disease using dihydrorhodamine-123 assay: Lessons from a large monocentric cohort.
Cytometry. Part B, Clinical cytometryLung microbial dysregulation and TNF inhibition contribute to worsened nontuberculous mycobacterial lung disease.
Research squareTranscatheter Arterial Approach for Refractory Liver Abscesses in Chronic Granulomatous Disease: A Case Series.
Journal of clinical immunologyResearch Progress on Chronic Granulomatous Disease in Children.
CureusAtopy and immune dysregulation among patients with chronic granulomatous disease.
Frontiers in immunologyRemarkable Rituximab Response in a Chronic Granulomatous Disease Patient on the Verge of a Lung Transplant.
Scandinavian journal of immunologyChronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.
The journal of gene medicineMisleading presentation of tuberculosis in a child with CGD revealing invasive aspergillosis: A molecularly confirmed case.
IDCasesNeutrophil progenitor cell therapy rescues host defense against Staphylococcus aureus in murine chronic granulomatous disease.
Journal of leukocyte biology[An adolescent male presenting with fever and pulmonary opacities].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesPhagocyte NADPH Oxidase NOX2-Derived Reactive Oxygen Species in Antimicrobial Defense: Mechanisms, Regulation, and Therapeutic Potential-A Narrative Review.
Antioxidants (Basel, Switzerland)Unmasking Invasive Pulmonary Aspergillosis: Insights From a Case Series at a Tertiary Care Center.
CureusElevated type I interferon signature in patients with chronic granulomatous disease.
Clinical and experimental immunologyChronic Granulomatous Disease Presenting with Recurrent Ascites and Primary Peritonitis.
Indian journal of pediatricsBeyond Fumigatus: a molecular portrait of clinical Aspergillus diversity, pathogenicity, and antifungal resistance.
Antimicrobial agents and chemotherapyDysregulation of U12-Type Splicing in Lupus Neutrophils.
Arthritis & rheumatology (Hoboken, N.J.)Erythema Nodosum Leprosum Triggered by Herpes Simplex Infection: A Case Report.
CureusUlcerative Necrobiosis Lipoidica in the Setting of Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma and Glucose-6-Phosphate Dehydrogenase Deficiency.
CureusNeonatal-Onset Chronic Granulomatous Disease Presenting With Recurrent Culture-Negative Meningitis: A Case Report and Diagnostic Considerations.
Case reports in immunologySarcoidosis Mimicking Metastatic Disease: Multisystem Involvement With Osseous Manifestations.
CureusBladder masses simulating neoplasia in chronic granulomatous disease: Diagnostic challenges and spontaneous regression.
Urology case reportsX-linked chronic granulomatous disease combined with disseminated nontuberculous mycobacteria and fungal infections: Diagnosis and treatment analysis.
MedicineTYK2 Deficiency Presenting as Refractory Disseminated BCG/Tuberculosis Infection in a Kazakh Child: A Case Report with Genetic Confirmation.
GenesIncidence, risk factors and outcomes of BCGosis following BCG vaccination in infants: a systematic review and meta-analyses.
Frontiers in immunologySomatic mosaicism of CYBB causing atypical CGD with inflammatory symptoms.
Immunologic researchMapping the landscape of autoimmunity and autoinflammation in inborn errors of immunity: broad distribution with distinct clustering patterns.
Frontiers in immunologyToll-like Receptors in Inborn Errors of Immunity in Children: Diagnostic Potential and Therapeutic Frontiers-A Review of the Latest Data.
CellsPrime Editing for p47phox-Deficient Chronic Granulomatous Disease.
The New England journal of medicineAbnormal DHR is not always synonymous with a diagnosis of chronic granulomatous disease.
BMJ case reportsNLRP3 inflammasome blockade treats intestinal inflammation associated with chronic granulomatous disease.
BloodComparative volatilomics identifies ubiquitous sulfur compounds inhibiting the fungal pathogen Rasamsonia argillacea.
Microbiology spectrumAn optimized protocol for isolating Rhinosporidium seeberi sporangia from rhinosporidiosis tissue and extracting genomic DNA for next-generation sequencing.
Molecular biology reportsEvaluation of a rapid flow cytometry assay to assess functional engraftment in CGD patients post-transplant and comparison with molecular chimerism.
Journal of immunological methodsBreaking the mold: a case of invasive Medicopsis romeroi pulmonary infection with innovative granulocyte treatment strategy.
ASM case reportsJob's not done: BCG-itis as the first manifestation of hyper-IgE syndrome. A case report and review of the literature.
Clinical immunology (Orlando, Fla.)Fungal Infections - a Stealthy Enemy in Patients with Chronic Granulomatous Disease: a 28-years' Experience from North India.
Journal of clinical immunologyConsecutive non-Aspergillus Fungal Invasive Infections in Chronic Granulomatous Disease: Data from the French National Reference Center for Primary ImmunoDeficiencies and literature review.
Journal of clinical immunologyExcellent Outcome of 1-Day Nonmyeloablative Salvage Regimen for Pediatric Patients with Graft Failure following Haploidentical Hematopoietic Stem Cell Transplantation.
Transplantation and cellular therapyHemophagocytic lymphohistiocytosis in 60 Mexican children with chronic granulomatous disease.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyChronic Granulomatous Disease in Pregnancy: a Rare Case Report.
Folia medicaHepatosplenic abscesses in a child with p40phox deficiency due to a homozygous NCF4 variant.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyNocardia in inborn errors in immunity.
Infectious diseases (London, England)Recurrent Transfusions and Severe Infections: Unmasking Hatipoglu Immunodeficiency Syndrome: Case Report and Review of Literature.
Journal of pediatric hematology/oncologyUse of dupilumab in eczematous eruptions following hematopoietic cell transplantation.
JAAD case reportsRepurposing sodium glucose cotransporter-2 (SGLT-2) inhibitors in sarcoidosis: A potential strategy for reducing mortality.
Heart & lung : the journal of critical careAntisense phosphorodiamidate morpholino oligomers retain activity in Burkholderia cepacia complex biofilm.
Frontiers in microbiologyRasamsonia argillacea brain abscess in a lung transplant recipient: an unexpected infection by an unusual fungal pathogen.
Medical mycology case reportsUmbilical Cord Blood Transplantation Provides an Alternative for Patients With Chronic Granulomatous Disease Lacking HLA-Matched Donors: A PIDTC Report.
Transplantation and cellular therapyPrime Editing: The Next Frontier in Precision Gene Therapy.
The journal of gene medicineFive CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy.
Journal of clinical immunologyThrombocytopenia in patients with inborn errors of immunity.
BMC immunologyMortality rate and causes of death in inborn errors of immunity: A systematic review and meta-analysis.
Mutation research. Reviews in mutation researchA 10-year-old Girl with an 8-Month History of Progressive Photophobia and Hemeralopia.
Retinal cases & brief reportsIs it time for the A/I (allergist/immunologist) to embrace AI (artificial intelligence) in diagnosis and treatment of the inborn errors of immunity?
Allergy and asthma proceedingsReliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing.
Frontiers in immunologyUnmasking chronic granulomatous disease: A routine diagnostic workup in a Brazilian children's hospital.
Allergologia et immunopathologiaInterferon-gamma 1b-induced gene expression alters neutrophil function in patients with chronic granulomatous disease.
PloS oneClinical, biochemical, and genetic characterization of Lebanese patients with chronic granulomatous disease due to NCF2 pathogenic variants.
Clinical immunology (Orlando, Fla.)The Nox2 NADPH oxidase regulates neutrophilic inflammation in the oral cavity.
bioRxiv : the preprint server for biologyImportance of BCG Vaccination at birth in Pediatric Patients with Chronic Granulomatous Disease after Hematopoietic Stem Cell Transplantation in Developing Countries.
Immunology lettersRenal Malacoplakia Following Obstetric Intervention: A Rare Cause of Acute Kidney Injury in a Young Woman.
Clinics and practiceA curious case of hypercalcemic crisis in sarcoidosis: The missing link beyond 1,25(OH)2D.
Journal of family medicine and primary careTargeted gene editing and near-universal cDNA insertion of CYBA and CYBB as a treatment for chronic granulomatous disease.
Nature communicationsHereditary distal renal tubular acidosis with chronic granulomatous disease: a rare coincidence.
CEN case reportsmTORC1-Dependent Regulation of the CCL24-CCR3 Axis Controls Granuloma Formation and Maintenance in Sarcoidosis.
bioRxiv : the preprint server for biologyIsolated Nasolacrimal Duct Rhinosporidiosis - A Rare Presentation of this Enigmatic Disease.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaLongitudinal Meta-cohort study protocol using systems biology to identify vaccine safety biomarkers.
VaccineNecrotizing ulcerative stomatitis following bone marrow transplantation in a patient with chronic granulomatous disease: Case report.
Clinical advances in periodonticsLiver Abscess: Think Outside the Box.
CureusRecognising Aspergillus udagawae in a child with chronic granulomatous disease.
The Lancet. Infectious diseasesRheumatologic manifestations in an X-Linked chronic granulomatous disease carrier.
The American journal of the medical sciencesHyper-IgE syndrome: A rare case report.
The journal of allergy and clinical immunology. GlobalInterferon gamma rebalances immunopathological signatures in chronic granulomatous disease through metabolic rewiring.
Blood advancesInvasive Mould Infections in Chronic Granulomatous Disease: A Multicenter Study From Türkiye.
MycosesEarly diagnosis of chronic granulomatous disease and McLeod syndrome via the use of a next generation sequencing.
Pediatrics international : official journal of the Japan Pediatric SocietyDysregulated Pro-inflammatory and Anti-inflammatory Cytokine Responses to Microbe-associated Molecular Patterns in X-linked Chronic Granulomatous Disease.
In vivo (Athens, Greece)Malakoplakia in kidney transplant recipients: Three case reports.
World journal of nephrologyCharacterizing neonatal community-acquired invasive fungal infections: Clinical profiles, pathogens, and underlying conditions.
MedicineThe value of DHR-enzyme-linked immunosorbent assay in the diagnosis of chronic granulomatous disease by detecting NADPH oxidase complex activity.
Frontiers in pediatricsPrimary Gastrointestinal Iatrogenic Kaposi Sarcoma: A Rare Pediatric Case Report.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyClinical characteristics and genetic features of 35 cases of adverse reactions to Bacillus Calmette-Guérin vaccine in children.
Frontiers in cellular and infection microbiologyGenetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.
Children (Basel, Switzerland)Postinfectious manifestations in two pediatric female X-linked carriers of chronic granulomatous disease.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyClinical manifestations of 42 Moroccan patients with chronic granulomatous disease.
Qatar medical journalDecreased neutrophil oxidative burst activity in children with failure to thrive - a pilot study.
American journal of blood researchBridging to Transplant: TDM-guided Outpatient Dalbavancin Therapy in Chronic Granulomatous Disease With Deep-seeded Inoperable Abscesses Over 11 Months.
Open forum infectious diseasesSkin Manifestations in Adults With Chronic Granulomatous Disease in the United Kingdom.
The journal of allergy and clinical immunology. In practiceChronic granulomatous disease: lessons in cell biology from monogenic immunodeficiency.
Clinical and experimental immunologyEvaluation of the Etiology of Granulomatous Lymphadenopathy in Children Admitted to a Tertiary Pediatric Infectious Clinic.
Turkish archives of pediatricsConjunctival Rhinosporidosis Mimicking Papilloma in an Ethiopian Child: A Rare Case Report.
Clinical case reportsDe novo DUOX2 expression in neutrophil subsets shapes the pathogenesis of intestinal disease.
Proceedings of the National Academy of Sciences of the United States of AmericaIncidence of nasal rhinosporidiosis in the UK.
BMJ case reportsDried blood spot proteome identifies subclinical interferon signature in neonates with type I interferonopathy.
The Journal of allergy and clinical immunologyNon-Infectious Complications of Chronic Granulomatous Disease: Knowledge Gaps & Novel Treatment Considerations.
Immunology and allergy clinics of North AmericaInvasive Fungal Infection by Scedosporium apiospermum with Cerebral Involvement in a Pediatric Patient Affected by Chronic Granulomatous Disease After Hematopoietic Cell Transplant.
Journal of fungi (Basel, Switzerland)Single-cell and spatial transcriptomics reveal the pathogenesis of chronic granulomatous disease in a natural model.
Cell reportsHematopoietic Cell Transplantation in a Patient With X-Linked Chronic Granulomatous Disease With McLeod Phenotype.
Pediatric transplantationGenotype-specific immune responses at the intestinal barrier predispose to colitis in mouse models of chronic granulomatous disease.
BloodThe Role of NADPH Oxidase 2 in Leukocytes.
Antioxidants (Basel, Switzerland)Pediatric rhinoscleroma of the nasal cavity: A case report and review of literature.
International journal of surgery case reportsBurkholderia cenocepacia-mediated inhibition of Staphylococcus aureus growth and biofilm formation.
Journal of bacteriologyPediatric Presentations of Granulomatosis With Polyangiitis: A Double Case Study.
Case reports in dermatological medicine[Infectious pulmonary artery pseudoaneurysms in 3 children and literatures review].
Zhonghua er ke za zhi = Chinese journal of pediatricsHLA-haploidentical stem cell transplantation for chronic granulomatous disease: an EBMT-IEWP retrospective study.
BloodInborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg.
Paediatrics & child healthGene therapy for inborn errors of immunity: Current clinical progress.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyClinical significance and antifungal susceptibility profile of 103 clinical isolates of Scedosporium species complex and Lomentospora prolificans obtained from NIH patients.
Journal of clinical microbiologyFirst case of invasive Rasamsonia argillacea in a child with chronic granulomatous disease in Qatar.
Medical mycology case reportsTuberculosis Presenting as a Patchy Consolidation in a Young Patient With Chronic Granulomatosis Disease.
Clinical case reportsTackling Infectious Diseases in the Caribbean and South America: Epidemiological Insights, Antibiotic Resistance, Associated Infectious Diseases in Immunological Disorders, Global Infection Response, and Experimental Anti-Idiotypic Vaccine Candidates Against Microorganisms of Public Health Importance.
MicroorganismsX-Linked CGD Chorioretinitis in Two Young Girls.
BiomedicinesTreatment of Post-COVID-19 Pulmonary Aspergilloma: Insights from a Clinical Case.
The American journal of case reportsManagement of sporotrichosis in patients with inflammatory bowel disease using biological therapy (antitumor necrosis factor).
European journal of gastroenterology & hepatologyA Case of Gaucher Disease With Atypical Presentation Mimicking Chronic Recurrent Multifocal Osteomyelitis.
CureusReactive oxygen species regulate early development of the intestinal macrophage-microbiome interface.
BloodFunctional assays for the diagnosis of chronic granulomatous disease.
Journal of immunological methodsViral-based gene therapy clinical trials for immune deficiencies and blood disorders from 2013 until 2023 - an overview.
Regenerative therapyMisdiagnosis of Leprosy with Severe Reversal Reaction as Psoriatic Arthritis: A Case Report and Literature Review.
Clinical, cosmetic and investigational dermatologyStandardization of the use of opsonized zymosan as stimulus in the 1,2,3-dihydrorhodamine technique for the assessment of neutrophil respiratory burst.
Biomedica : revista del Instituto Nacional de SaludFour-month-old infant with chronic granulomatous disease and invasive aspergillosis with bone involvement.
Biomedica : revista del Instituto Nacional de SaludClinical and genetic description of patients with chronic granulomatous disease in a pediatric hospital.
Biomedica : revista del Instituto Nacional de SaludChitosan/γ-PGA nanoparticles and IFN-γ immunotherapy: A dual approach for triple-negative breast cancer treatment.
Journal of controlled release : official journal of the Controlled Release SocietyPancreatic Sarcoidosis: A Rare Manifestation of Systemic Sarcoidosis.
CureusEpidemiology, risk factors, and awareness of mycetoma among residents in Eastern Sinnar locality, Sudan, 2021.
Journal of global healthAn Adult-Onset Chronic Granulomatous Disease Case with Hemophagocytic Lymphohistiocytosis Caused by Burkholderia and Aspergillus Infections.
Infectious diseases & clinical microbiologyA case report: Endobronchial ultrasound guided biopsy of radiographically normal size thoracic lymph nodes supporting diagnosis of cardiac sarcoidosis.
Respiratory medicine case reportsImplementation of a Pilot Study in Adolescent Health Care Transition Program for Chronic Granulomatous Disease: A Single Institution Experience.
Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & PractitionersMulch pneumonitis in chronic granulomatous disease: More than just a fungal infection.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyNeonatal Chronic Granulomatous Disease With Septic Arthritis and Osteomyelitis: Diagnostic and Therapeutic Challenge With Literature Review.
Journal of investigative medicine high impact case reportsA Rare Case of Nasal Rhinosporidiosis in the Santhal Pargana Region of Jharkhand: Clinical Presentation and Management.
CureusCase report: Candida blankii osteo-articular infection in a patient with Chronic Granulomatous Disease.
Medical mycology case reportsEtiology, Clinical Profile and Factors Predicting Disease Recurrence of Rhinosporidiosis in a Tertiary Care Centre in Kanyakumari District.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaCharacterization and Comparative Genomic Analysis of vB_BceM_CEP1: A Novel Temperate Bacteriophage Infecting Burkholderia cepacia Complex.
Journal of microbiology (Seoul, Korea)Competency of Jeffrey Modell Foundation warning signs and routine laboratory tests in suspecting primary immunodeficiencies: A cross-sectional multi-centric prospective study from eastern India.
International journal of rheumatic diseasesTwo distinct clinical progressions of P67phox-deficient CGD, both commencing with cervical lymphadenitis.
Italian journal of pediatricsOutcomes in hematopoetic cell transplantation in the setting of mold infections in patients with chronic granulomatous disease.
Bone marrow transplantationMold infections in chronic granulomatous disease patients-what comes to the rescue?
Bone marrow transplantationPrimary actinomycotic osteomyelitis of metacarpal bones managed successfully with surgical debridement and Welsh regimen.
BMJ case reportsNOX2 deficiency promotes GSDME-related pyroptosis by reducing AMPK activation in neutrophils.
International immunopharmacologyLong-Term Observation of Focal Segmental Glomerulosclerosis after Treatment of Renal Parenchymal Malakoplakia: A Case Report.
Case reports in nephrology and dialysisHistoplasma capsulatum Infection With Both Granulomatous Features and Fibrosing Mediastinitis Presenting as Shortness of Breath: A Case Report.
CureusTropicoporus tropicalis: A Newly Recognised Pathogen in Eumycetoma and Refractory Mycoses in Humans.
MycosesChest Wall CT-Fistulography for Surgical Planning in a Patient With Chronic Granulomatous Disease.
Archivos de bronconeumologiaNovel hypomorphic CYBB variant causing chronic granulomatous disease with incomplete penetrance.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyHigh-fidelity PAMless base editing of hematopoietic stem cells to treat chronic granulomatous disease.
Science translational medicineGene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements.
Communications biologySevere clinical phenotypes of heterozygous females with X-linked chronic granulomatous disease.
The journal of allergy and clinical immunology. In practiceHematopoietic cell transplantation for inborn errors of immunity: an update on approaches, outcomes and innovations.
Current opinion in pediatricsChronic Granulomatous Disease as Differential Diagnosis to Crohn's Disease in Children: a Case Report.
Acta dermato-venereologicaImmunodeficiency: Gene therapy for primary immune deficiency.
Allergy and asthma proceedingsA Rare Case of Isolated Extrapulmonary Sarcoidosis With Renal Involvement Sans Pulmonary Findings: Diagnostic Challenges and Clinical Insights.
CureusHigh symptom burden in female X-linked chronic granulomatous disease carriers.
Clinical immunology (Orlando, Fla.)Inborn errors of immunity and invasive fungal infections: presentation and management.
Current opinion in infectious diseasesDihydrorhodamine-123 flow cytometry method: time for substantial revision in technical procedure.
Laboratory medicineImaging of Madura foot: Case report.
Radiology case reportsA Rare Case of Tubercular Osteomyelitis of Mandible in a 5-year-old Child.
International journal of clinical pediatric dentistryProfile of juvenile systemic lupus erythematosus patients with a special reference to monogenic lupus and lupus nephritis: a cross-sectional study.
Rheumatology internationalPermissive lung neutrophils facilitate tuberculosis immunopathogenesis in male phagocyte NADPH oxidase-deficient mice.
PLoS pathogensRheumatoid arthritis complicated with cervical actinomycosis and ureteral obstruction: A case report and literature review.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesExpanding the Clinical Phenotype of Autosomal Recessive Chronic Granulomatous Disease.
Journal of clinical immunologyDiagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.
Journal of clinical medicineBurkholderia cepacia Complex Producing a Peculiar Violet Pigment: A Case Series From a Tertiary Care Hospital in Meghalaya.
CureusA Case of Chronic Granulomatous Disease Masquerading As Tubercular Lymphadenitis in an Infant.
CureusDescription of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease.
Journal of clinical immunologySpontaneous NETosis and type I IFN signaling activation in resting neutrophils of chronic granulomatous disease patients with CYBB mutations.
Genes & diseases[Chest computed tomography manifestations in neonates with chronic granulomatous disease].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsClinical presentation, diagnosis, and treatment of chronic granulomatous disease.
Frontiers in pediatricsA rare differential diagnosis of inflammatory bowel disease in a young male patient; a challenging case report.
Gastroenterology and hepatology from bed to benchNonendemic rhinoscleroma: An unusual manifestation of the trachea.
Laryngoscope investigative otolaryngologySelf-extinguishing relay waves enable homeostatic control of human neutrophil swarming.
Developmental cellCutaneous Inflammatory Manifestations of Chronic Granulomatous Disease.
JAMA dermatologyNovel infantile presentations of chronic granulomatous disease.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyTargeted knock-in of NCF1 cDNA into the NCF2 locus leads to myeloid phenotypic correction of p47 phox -deficient chronic granulomatous disease.
Molecular therapy. Nucleic acidsA Mouse Model of X-Linked Chronic Granulomatous Disease for the Development of CRISPR/Cas9 Gene Therapy.
GenesAir pollution and incident sarcoidosis in central Pennsylvania.
Journal of toxicology and environmental health. Part AChronic granulomatous disease: A single-center experience in Central Anatolia.
Pediatrics and neonatologyGenotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort.
BloodFirst Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency.
Journal of clinical immunologyCase report: A rare case of malacoplakia resembling a malignant tumor of the cervix: a case report and review of the literature.
Frontiers in medicineDisseminated rhinosporidial osteomyelitis: A rare case report.
Indian journal of pathology & microbiologyBCGosis with erythema nodosum in a child with chronic granulomatous disease: An atypical presentation.
Indian journal of dermatology, venereology and leprologyChronic Granulomatous Disease: A Rare Primary Immunodeficiency Disorder in Pakistan due to Under-diagnosis or Under-prevalence?
Journal of pediatric surgeryAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença granulomatosa crônica.
É de uma associação que acompanha esta doença? Fale com a gente →
Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Doença granulomatosa crônica e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma imunodeficiência primária rara que prejudica a atuação dos fagócitos na destruição de microrganismos invasores. Os pacientes apresentam infecções repetidas por bactérias e fungos e desenvolvem áreas de inflamação tecidual chamadas granulomas.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Doença granulomatosa crônica. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-granulomatosa-cronica
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Doença granulomatosa crônica
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Medicamentos aprovados FDA
- fonte: FDA OpenFDA
- Ensaios clínicos
- fonte: ClinicalTrials.gov
