Chronic Granulomatous Disease

A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern.

Also Known As:

Granulomatous Disease, Chronic; Autosomal Recessive Chronic Granulomatous Disease; Chronic Granulomatous Disease, Atypical; Chronic Granulomatous Disease, X-Linked; Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked; Cytochrome B-Positive Granulomatous Disease, Chronic, X-Linked; Granulomatous Disease, Chronic, X-Linked; Granulomatous Disease, Chronic, X-Linked, Variant; X-Linked Chronic Granulomatous Disease; Chronic Granulomatous Disease, X Linked; Chronic Granulomatous Diseases; Granulomatous Diseases, Chronic; X Linked Chronic Granulomatous Disease

Networked: 1840 relevant articles (45 outcomes, 99 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Infections
2.	Aspergillosis
3.	Wiskott-Aldrich Syndrome
4.	Acquired Immunodeficiency Syndrome (AIDS)
5.	Osteopetrosis

Experts

1.	Malech, Harry L: 55 articles (04/2022 - 03/2002)
2.	Holland, Steven M: 49 articles (04/2022 - 03/2002)
3.	Roos, Dirk: 36 articles (01/2021 - 03/2002)
4.	Dinauer, Mary C: 31 articles (01/2021 - 03/2002)
5.	Gallin, John I: 24 articles (03/2021 - 03/2002)
6.	de Boer, Martin: 24 articles (01/2021 - 03/2002)
7.	Kuhns, Douglas B: 18 articles (04/2021 - 03/2002)
8.	Roesler, Joachim: 18 articles (01/2021 - 12/2002)
9.	Bustamante, Jacinta: 16 articles (01/2022 - 08/2008)
10.	van Leeuwen, Karin: 16 articles (01/2021 - 02/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chronic Granulomatous Disease:

1.	Interferon-gamma (Interferon, gamma)IBA 12/01/1996 - "During the international placebo-controlled trial on the efficacy of interferon-gamma (IFN-gamma) in chronic granulomatous disease (CGD), 19 patients entered the study via our Institute. " 04/01/1995 - "This was an uncontrolled, open-label follow up study of a previous 12-month, randomized, double-blind, placebo-controlled trial performed to assess the long-term efficacy and safety of Recombinant Human Interferon Gamma (rIFN-gamma) in patients with chronic granulomatous disease (CGD). " 07/21/1988 - "This study demonstrates partial correction of the cellular defects in chronic granulomatous disease by interferon gamma and provides a basis for clinical trials of the agent." 04/01/2023 - "Efficacy and Safety of Interferon-Gamma in Chronic Granulomatous Disease: a Systematic Review and Meta-analysis." 10/01/2004 - "Clinical evaluation of interferon-gamma treatment to chronic granulomatous disease patients with splice site mutations."
2.	Adrenal Cortex Hormones (Corticosteroids)IBA 09/01/2007 - "Important role of corticosteroids in chronic granulomatous disease." 09/01/1987 - "Corticosteroids for chronic granulomatous disease." 09/01/1987 - "Two patients with chronic granulomatous disease had obstructive lesions of the gastrointestinal tract, esophagus, and genitourinary tract, which were successfully treated with corticosteroids. " 09/01/1987 - "Corticosteroids in treatment of obstructive lesions of chronic granulomatous disease." 10/12/2023 - "Individuals at risk for IPA harbor genetic mutations or incur pharmacologic defects that impair myeloid cell numbers and/or function, exemplified by bone marrow transplant recipients, patients that receive corticosteroid therapy, or patients with chronic granulomatous disease (CGD). "
3.	NADPH Oxidases (NAD(P)H oxidase)IBA 05/01/2002 - "We hypothesize that clearance of stimulated neutrophils would be delayed in chronic granulomatous disease (CGD) neutrophils, which lack a functional NADPH oxidase. " 01/01/2020 - "Cell-free assays played a paramount role in the identification and characterization of the components of the NADPH oxidase complex, the performance of structure-function studies, the deciphering of the mechanisms of assembly, the search for inhibitory drugs, and the diagnosis of various forms of chronic granulomatous disease (CGD)." 05/01/2007 - "[The X+ chronic granulomatous disease as a fabulous model to study the NADPH oxidase complex activation]." 03/01/2002 - "Using an established murine model of X-linked chronic granulomatous disease (X-CGD) created by homologous recombinant disruption of the gene encoding the gp91phox component of the NADPH oxidase, in this study we examined cutaneous reactivity to sterile Aspergillus fumigatus hyphae. " 03/01/1996 - "The study of patients with chronic granulomatous disease (CGD), an inherited disorder characterized by deficient of absent respiratory burst activity, has contributed greatly to our understanding of the NADPH-oxidase. "
4.	Adenosine DeaminaseIBA 01/01/2009 - "In the past decade, substantial progress has been achieved in the treatment of severe combined immundeficiencies (SCID)-X1, adenosine deaminase (ADA)-deficient SCID, and chronic granulomatous disease (CGD). " 07/01/2008 - "Both clinical successes and severe adverse events continue to be reported in trials of gammaretroviral gene therapy for severe combined immune deficiency-X1, adenosine deaminase-deficient forms of severe combined immune deficiency and chronic granulomatous disease. " 06/01/2014 - "This review details gene therapy trials for X-linked and adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome (WAS) and chronic granulomatous disease (CGD). " 05/01/2010 - "Recent clinical trials using gene therapy have led to immune restoration in patients with X-linked severe combined immune deficiency (XSCID), adenosine deaminase (ADA)-deficient SCID and chronic granulomatous disease (CGD). " 04/01/2008 - "Results from clinical trials for X-linked severe combined immunodeficiency (SCID-X1), adenosine deaminase deficient SCID (ADA-SCID), and X-linked chronic granulomatous disease (X-CGD) are discussed. "
5.	Superoxides (Superoxide)IBA 03/01/1982 - "Differences in the ability of human peripheral blood monocytes and in vitro monocyte-derived macrophages to produce superoxide anion: studies with cells from normals and patients with chronic granulomatous disease." 11/01/2023 - "X-linked chronic granulomatous disease (XL-CGD) is an inherited disorder of superoxide production, causing failure to generate the oxidative burst in phagocytes. " 11/08/2018 - "Genetic mutations that reduce intracellular superoxide production by granulocytes causes chronic granulomatous disease (CGD). " 06/01/2015 - "Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by failure of superoxide production in phagocytic cells. " 06/01/2011 - "This method will be valuable for prompt diagnosis of neonatal chronic granulomatous diseases in which neutrophils aberrantly produce superoxide."
6.	Itraconazole (Sporanox)FDA LinkGeneric 12/01/1994 - "These results require further evaluation through a comparative randomized trial to assess the possible benefit of itraconazole prophylaxis in patients with chronic granulomatous disease." 05/01/2004 - "We have investigated the effects of itraconazole (0.1-10 micro m), an antimycotic which is often used prophylactically in primary and secondary immunodeficiency disorders, including chronic granulomatous disease, on mobilization of Ca(2+) and restoration of Ca(2+) homeostasis following activation of neutrophils with FMLP or PAF. " 11/01/1998 - "We describe a case of cutaneous purulent aspergillosis in a 19-year-old man with chronic granulomatous disease (CGD) treated successfully with a 6-month regimen of itraconazole. " 06/12/2003 - "Itraconazole prophylaxis appears to be an effective and well-tolerated treatment that reduces the frequency of fungal infections in chronic granulomatous disease, but monitoring for long-term toxic effects is warranted." 06/12/2003 - "We assessed the efficacy of itraconazole as prophylaxis against serious fungal infections in chronic granulomatous disease. "
7.	Trimethoprim (Proloprim)FDA LinkGeneric 10/01/1996 - "We present a 5-year-old boy with a severe form of X-linked chronic granulomatous disease and hypersensitivity to sulphamides preventing prophylaxis with trimethoprim-sulphomethoxazole. " 07/01/1983 - "We conclude that prophylactic treatment with sulfamethoxazole-trimethoprim is beneficial in patients with chronic granulomatous disease." 10/01/1983 - "Clindamycin and trimethoprim penetrated into normal and chronic granulomatous disease (CGD) PMN equally and were at least transiently concentrated in the cells. " 07/01/1983 - "In a retrospective study, the effect of long-term treatment with sulfamethoxazole-trimethoprim was evaluated in nine male patients with chronic granulomatous disease. " 12/01/1981 - "Chronic granulomatous disease: mode of action of sulfamethoxazole/trimethoprim."
8.	Sulfamethoxazole FDA LinkGeneric 07/01/1983 - "We conclude that prophylactic treatment with sulfamethoxazole-trimethoprim is beneficial in patients with chronic granulomatous disease." 07/01/1983 - "In a retrospective study, the effect of long-term treatment with sulfamethoxazole-trimethoprim was evaluated in nine male patients with chronic granulomatous disease. " 12/01/1981 - "Chronic granulomatous disease: mode of action of sulfamethoxazole/trimethoprim." 01/01/1981 - "Chronic granulomatous disease: effect of sulfamethoxazole/trimethoprim on neutrophil microbicidal function." 07/01/1983 - "Continuous therapy with sulfamethoxazole-trimethoprim in patients with chronic granulomatous disease."
9.	Proteins (Proteins, Gene)FDA Link 12/09/1994 - "In this study we have quantitated Rac1 and Rac2 in human neutrophils and show that > 96% of the Rac protein is Rac2 and that chronic granulomatous disease (CGD) neutrophils contain normal levels of the protein. " 10/14/2022 - "Base editing of the NCF1 gene, whose monoallelic loss causes chronic granulomatous disease, resulted in the desired increase of NCF1 (p47phox) protein levels in a relevant cell model. " 01/01/2021 - "Lentivector gene therapy for X-linked chronic granulomatous disease (X-CGD) has proven to be a viable approach, but random vector integration and subnormal protein production from exogenous promoters in transduced cells remain concerning for long-term safety and efficacy. " 01/01/2019 - "In contrast, only few proteins changed in patients with leukocyte adhesion deficiency (LAD) and chronic granulomatous disease (CGD). " 01/01/2019 - "Chronic granulomatous disease is a clinical condition that stems from inactivating mutations in NOX2 and its auxiliary proteins. "
10.	Nitroblue TetrazoliumIBA 06/01/1986 - "Heterogeneity in chronic granulomatous disease detected with an improved nitroblue tetrazolium slide test." 11/30/1993 - "Study of chronic granulomatous disease by a nitroblue tetrazolium densitometric kinetic test: a new research method." 05/30/1992 - "Immunologic studies initiated after this time showed negative tetrazolium nitroblue test, the results of which led to the diagnosis of chronic granulomatous disease. " 01/01/1976 - "Nitroblue tetrazolium reduction by human macrophages: studies in chronic granulomatous disease." 01/01/2022 - "Due to the lack of widespread availability of flow cytometry services for immunodeficiency, nitroblue tetrazolium test (NBT) is the commonly used screening modality to identify patients with chronic granulomatous disease (CGD) in developing countries. "

Therapies and Procedures

1.	Therapeutics 05/01/2008 - "We made gene therapeutics for X-chronic granulomatous disease (CGD) by transducing murine bone marrow-derived stem cells with MT-gp91 retrovirus and evaluated possible toxicity in mice as a prerequisite for human clinical trials. " 03/01/2023 - "Recent topics and advanced therapies in chronic granulomatous disease." 01/01/2020 - "Cellular Therapies in Chronic Granulomatous Disease." 12/01/2018 - " In light of recent literature, this case report shows that chronic granulomatous disease should be considered as a differential diagnosis to therapy refractory IBD. " 05/09/2018 - "Furthermore, new therapies focused on altering the biology of phagolysosomes might offer novel targeted treatments for inflammatory complications in patients with chronic granulomatous disease."
2.	Hematopoietic Stem Cell Transplantation 01/01/2012 - "Matched related donor (MRD) hematopoietic stem cell transplantation (HSCT) is a successful treatment for chronic granulomatous disease (CGD), but the safety and efficacy of HSCT from unrelated donors is less certain. " 01/01/2015 - "Dramatic Improvement in the Multifocal Positron Emission Tomography Findings of a Young Adult with Chronic Granulomatous Disease Following Allogeneic Hematopoietic Stem Cell Transplantation." 08/01/2017 - "Allogeneic Reduced-Intensity Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: a Single-Center Prospective Trial." 11/16/2023 - "The patient reported here underwent hematopoietic stem cell transplantation (HSCT) due to chronic granulomatous disease (CGD) caused by biallelic mutations of the NCF1 gene. " 10/01/2023 - "Hematopoietic stem-cell transplantation (HSCT) is the only curative treatment for chronic granulomatous disease (CGD) and leukocyte-adhesion deficiency (LAD), but both diseases have high rates of graft failure in transplant and patients with these diseases are often referred to HSCT with significant comorbidity. "
3.	Transplantation 01/01/2020 - "Haploidentical related donor (HRD) transplantation was performed in 7 recipients with chronic granulomatous disease (CGD) who had no matched-related or unrelated donor. " 06/01/2019 - "To investigate the clinical efficacy of haploid hematopoietic stem cells (haplo-HSC) combined with third-party umbilical cord blood (tpCB) transplantation in the treatment of X-linked chronic granulomatous disease (X-CGD). " 06/01/2019 - "[A clinical study of haploid hematopoietic stem cells combined with third-party umbilical cord blood transplantation in the treatment of chronic granulomatous disease]." 01/01/2019 - "Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse Induced Pluripotent Stem Cells." 11/01/2016 - "Myeloablative conditioning (MAC) regimens are commonly used in transplantation for chronic granulomatous disease (CGD) but are associated with toxicity. "
4.	Drug Therapy (Chemotherapy) 07/01/1991 - "Disseminated infection with Pseudallescheria boydii in a patient with chronic granulomatous disease: response to gamma-interferon plus antifungal chemotherapy." 01/01/2021 - "In children, it is well described in those with chronic granulomatous disease (CGD) as a complication of immunosuppressive antineoplastic chemotherapy and rarely in extremely- or very-low birthweight premature neonatal intensive care patients. " 09/01/2012 - "Disseminated disease mainly occurs in immunocompromised patients with underlying illnesses such as chronic granulomatous disease, human immunodeficiency virus (HIV) infection, in patients undergoing cytotoxic chemotherapy, organ transplantation or prolonged glucocorticoid treatment. " 06/01/2009 - "Granulocyte transfusion is a useful adjunct to antimicrobials and growth factors in post chemotherapy neutropenic sepsis and is highly effective in children with chronic granulomatous disease and life threatening infections." 11/01/2000 - "Cytokines are increasingly used for the therapy of infections in patient populations with special defects in immunity (chemotherapy, bone marrow transplantation, chronic granulomatous disease). "
5.	Antibiotic Prophylaxis 04/01/2019 - "Long term antibiotic prophylaxis has helped fight infections associated with chronic granulomatous disease, while the steady progress in bone marrow transplants and the possibility of gene therapy are defined as permanent treatment options. " 03/15/2002 - "Antibiotic prophylaxis in patients with chronic granulomatous disease (CGD) has decreased the prevalence of infections, but uncommon microorganisms are being observed more frequently. " 09/21/2006 - "Longterm antibiotic prophylaxis has helped to fight infections associated with chronic granulomatous disease while the steady progress in bone marrow transplantation and the prospect of gene therapy are hailed as long awaited permanent treatment options. " 04/01/2023 - "In total, 324 patients with Chronic granulomatous disease were followed for 319 months under treatment with antibiotic prophylaxis plus interferon-gamma or placebo (or antibiotic prophylaxis alone), reported between the years 1991 and 2016. " 01/01/1997 - "The patient was diagnosed as a carrier of chronic granulomatous disease and treatment based on antibiotic prophylaxis with cotrimoxazole was initiated; skin infections were treated with antiseptic soaps. "