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Granulomatosis

MedGen UID:
488910
Concept ID:
C0521173
Disease or Syndrome
SNOMED CT: Granulomatosis (443138004); Granulomatosis (44328006)
 
HPO: HP:0002955

Definition

Formation of multiple granulomas, i.e., localized nodular foci inflammation. [from HPO]

Conditions with this feature

Wegener granulomatosis
MedGen UID:
12144
Concept ID:
C0043092
Disease or Syndrome
Wegener granulomatosis (WG) is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera. These ANCAs are antibodies to a defined target antigen, proteinase-3 (PR3, PRTN3; 177020), that is present within primary azurophil granules of neutrophils (PMNs) and lysozymes of monocytes. On cytokine priming of PMNs, PR3 translocates to the cell surface, where PR3-ANCAs can interact with their antigens and activate PMNs. PMNs from patients with active WG express PR3 on their surface, produce respiratory burst, and release proteolytic enzymes after activation with PR3-ANCAs. The consequence is a self-sustaining inflammatory process (Jagiello et al., 2004).
Granulomatous disease, chronic, autosomal dominant type
MedGen UID:
330699
Concept ID:
C1841825
Disease or Syndrome
Chronic granulomatous disease, X-linked
MedGen UID:
336165
Concept ID:
C1844376
Disease or Syndrome
Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). Genetic Heterogeneity of Chronic Granulomatous Disease Chronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD (233690), caused by mutation in the CYBA gene (608508); autosomal recessive cytochrome b-positive CGD type I (233700), caused by mutation in the NCF1 gene (608512); autosomal recessive cytochrome b-positive CGD II (608515), caused by mutation in the NCF2 gene (608515); and autosomal recessive cytochrome b-positive CGD type III (613960), caused by mutation in the NCF4 gene (601488). A similar syndrome, termed neutrophil immunodeficiency syndrome (608203), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (602049).
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
MedGen UID:
383869
Concept ID:
C1856245
Disease or Syndrome
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life.People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves. Exposure to these organic materials and the numerous fungi involved in their decomposition causes people with chronic granulomatous disease to develop fungal infections in their lungs. Other common areas of infection in people with chronic granulomatous disease include the skin, liver, and lymph nodes.Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth, throat, and skin. Additionally, granulomas within the gastrointestinal tract can lead to tissue breakdown and pus production (abscesses). Inflammation in the stomach can prevent food from passing through to the intestines (gastric outlet obstruction), leading to an inability to digest food. These digestive problems cause vomiting after eating and weight loss. In the genitourinary tract, inflammation can occur in the kidneys and bladder. Inflammation of the lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce immune cells, can lead to further impairment of the immune system.Rarely, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs.Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1
MedGen UID:
341102
Concept ID:
C1856251
Disease or Syndrome
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life.People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves. Exposure to these organic materials and the numerous fungi involved in their decomposition causes people with chronic granulomatous disease to develop fungal infections in their lungs. Other common areas of infection in people with chronic granulomatous disease include the skin, liver, and lymph nodes.Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth, throat, and skin. Additionally, granulomas within the gastrointestinal tract can lead to tissue breakdown and pus production (abscesses). Inflammation in the stomach can prevent food from passing through to the intestines (gastric outlet obstruction), leading to an inability to digest food. These digestive problems cause vomiting after eating and weight loss. In the genitourinary tract, inflammation can occur in the kidneys and bladder. Inflammation of the lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce immune cells, can lead to further impairment of the immune system.Rarely, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs.Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
MedGen UID:
383872
Concept ID:
C1856255
Disease or Syndrome
Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.'

Recent clinical studies

Etiology

Horta-Baas G, Hernández-Cabrera MF, Catana R, Pérez-Cristóbal M, Barile-Fabris LA
Reumatol Clin 2016 Sep-Oct;12(5):267-73. Epub 2015 Dec 22 doi: 10.1016/j.reuma.2015.10.009. PMID: 26718390
Greco A, Marinelli C, Fusconi M, Macri GF, Gallo A, De Virgilio A, Zambetti G, de Vincentiis M
Int J Immunopathol Pharmacol 2016 Jun;29(2):151-9. Epub 2015 Dec 18 doi: 10.1177/0394632015617063. PMID: 26684637
Hazebroek MR, Kemna MJ, Schalla S, Sanders-van Wijk S, Gerretsen SC, Dennert R, Merken J, Kuznetsova T, Staessen JA, Brunner-La Rocca HP, van Paassen P, Cohen Tervaert JW, Heymans S
Int J Cardiol 2015 Nov 15;199:170-9. Epub 2015 Jul 15 doi: 10.1016/j.ijcard.2015.06.087. PMID: 26209947
Hruskova Z, Stel VS, Jayne D, Aasarød K, De Meester J, Ekstrand A, Eller K, Heaf JG, Hoitsma A, Martos Jimenéz C, Ravani P, Wanner C, Tesar V, Jager KJ
Am J Kidney Dis 2015 Oct;66(4):613-20. Epub 2015 May 12 doi: 10.1053/j.ajkd.2015.03.025. PMID: 25975963
Guidelli GM, Tenti S, Pascarelli NA, Galeazzi M, Fioravanti A
Autoimmun Rev 2015 Aug;14(8):659-64. Epub 2015 Mar 24 doi: 10.1016/j.autrev.2015.03.005. PMID: 25816995

Diagnosis

Jung YH, Lee MJ, Lee C, Cha J, Chung CS
Headache 2017 Mar;57(3):488-493. Epub 2016 Dec 10 doi: 10.1111/head.13005. PMID: 27943273
Bîrluţiu V, Rezi EC, Bîrluţiu RM, Zaharie IS
World J Surg Oncol 2016 May 16;14:145. doi: 10.1186/s12957-016-0901-x. PMID: 27183987Free PMC Article
Horta-Baas G, Hernández-Cabrera MF, Catana R, Pérez-Cristóbal M, Barile-Fabris LA
Reumatol Clin 2016 Sep-Oct;12(5):267-73. Epub 2015 Dec 22 doi: 10.1016/j.reuma.2015.10.009. PMID: 26718390
Greco A, Marinelli C, Fusconi M, Macri GF, Gallo A, De Virgilio A, Zambetti G, de Vincentiis M
Int J Immunopathol Pharmacol 2016 Jun;29(2):151-9. Epub 2015 Dec 18 doi: 10.1177/0394632015617063. PMID: 26684637
Hazebroek MR, Kemna MJ, Schalla S, Sanders-van Wijk S, Gerretsen SC, Dennert R, Merken J, Kuznetsova T, Staessen JA, Brunner-La Rocca HP, van Paassen P, Cohen Tervaert JW, Heymans S
Int J Cardiol 2015 Nov 15;199:170-9. Epub 2015 Jul 15 doi: 10.1016/j.ijcard.2015.06.087. PMID: 26209947

Therapy

Jung YH, Lee MJ, Lee C, Cha J, Chung CS
Headache 2017 Mar;57(3):488-493. Epub 2016 Dec 10 doi: 10.1111/head.13005. PMID: 27943273
Horta-Baas G, Hernández-Cabrera MF, Catana R, Pérez-Cristóbal M, Barile-Fabris LA
Reumatol Clin 2016 Sep-Oct;12(5):267-73. Epub 2015 Dec 22 doi: 10.1016/j.reuma.2015.10.009. PMID: 26718390
Greco A, Marinelli C, Fusconi M, Macri GF, Gallo A, De Virgilio A, Zambetti G, de Vincentiis M
Int J Immunopathol Pharmacol 2016 Jun;29(2):151-9. Epub 2015 Dec 18 doi: 10.1177/0394632015617063. PMID: 26684637
Hazebroek MR, Kemna MJ, Schalla S, Sanders-van Wijk S, Gerretsen SC, Dennert R, Merken J, Kuznetsova T, Staessen JA, Brunner-La Rocca HP, van Paassen P, Cohen Tervaert JW, Heymans S
Int J Cardiol 2015 Nov 15;199:170-9. Epub 2015 Jul 15 doi: 10.1016/j.ijcard.2015.06.087. PMID: 26209947
Lazzerini M, Martelossi S, Cont G, Bersanini C, Ventura G, Fontana M, Zuin G, Ventura A, Taddio A
Dig Liver Dis 2015 Apr;47(4):338-41. Epub 2014 Dec 30 doi: 10.1016/j.dld.2014.12.012. PMID: 25618553

Prognosis

Bîrluţiu V, Rezi EC, Bîrluţiu RM, Zaharie IS
World J Surg Oncol 2016 May 16;14:145. doi: 10.1186/s12957-016-0901-x. PMID: 27183987Free PMC Article
Greco A, Marinelli C, Fusconi M, Macri GF, Gallo A, De Virgilio A, Zambetti G, de Vincentiis M
Int J Immunopathol Pharmacol 2016 Jun;29(2):151-9. Epub 2015 Dec 18 doi: 10.1177/0394632015617063. PMID: 26684637
Hazebroek MR, Kemna MJ, Schalla S, Sanders-van Wijk S, Gerretsen SC, Dennert R, Merken J, Kuznetsova T, Staessen JA, Brunner-La Rocca HP, van Paassen P, Cohen Tervaert JW, Heymans S
Int J Cardiol 2015 Nov 15;199:170-9. Epub 2015 Jul 15 doi: 10.1016/j.ijcard.2015.06.087. PMID: 26209947
Hruskova Z, Stel VS, Jayne D, Aasarød K, De Meester J, Ekstrand A, Eller K, Heaf JG, Hoitsma A, Martos Jimenéz C, Ravani P, Wanner C, Tesar V, Jager KJ
Am J Kidney Dis 2015 Oct;66(4):613-20. Epub 2015 May 12 doi: 10.1053/j.ajkd.2015.03.025. PMID: 25975963
Lazzerini M, Martelossi S, Cont G, Bersanini C, Ventura G, Fontana M, Zuin G, Ventura A, Taddio A
Dig Liver Dis 2015 Apr;47(4):338-41. Epub 2014 Dec 30 doi: 10.1016/j.dld.2014.12.012. PMID: 25618553

Clinical prediction guides

Recillas-Gispert C, Serna-Ojeda JC, Flores-Suárez LF
Graefes Arch Clin Exp Ophthalmol 2015 Dec;253(12):2279-84. Epub 2015 Oct 27 doi: 10.1007/s00417-015-3198-5. PMID: 26507398
Zheng Z, Ding J, Li X, Wu Z
Rheumatol Int 2015 Nov;35(11):1925-9. Epub 2015 Aug 7 doi: 10.1007/s00296-015-3334-x. PMID: 26248531
Hazebroek MR, Kemna MJ, Schalla S, Sanders-van Wijk S, Gerretsen SC, Dennert R, Merken J, Kuznetsova T, Staessen JA, Brunner-La Rocca HP, van Paassen P, Cohen Tervaert JW, Heymans S
Int J Cardiol 2015 Nov 15;199:170-9. Epub 2015 Jul 15 doi: 10.1016/j.ijcard.2015.06.087. PMID: 26209947
Hruskova Z, Stel VS, Jayne D, Aasarød K, De Meester J, Ekstrand A, Eller K, Heaf JG, Hoitsma A, Martos Jimenéz C, Ravani P, Wanner C, Tesar V, Jager KJ
Am J Kidney Dis 2015 Oct;66(4):613-20. Epub 2015 May 12 doi: 10.1053/j.ajkd.2015.03.025. PMID: 25975963
Pereira Beceiro J, Rodríguez Alonso A, Bonelli Martín C, Pérez Valcárcel J, Mosquera Seoane T, Cuerpo Pérez MÁ
Reumatol Clin 2014 Nov-Dec;10(6):409-12. Epub 2014 Feb 18 doi: 10.1016/j.reuma.2013.08.002. PMID: 24555967

Recent systematic reviews

D'Anza B, Langford CA, Sindwani R
Am J Rhinol Allergy 2017 Jan 1;31(1):16-21. doi: 10.2500/ajra.2017.31.4408. PMID: 28234146
Kędzierska K, Sindrewicz K, Smektała T, Wiśniewska M, Masiuk M, Staniszewska E, Sporniak-Tutak K, Gołembiewska E, Ciechanowski K
Postepy Hig Med Dosw (Online) 2016 Mar 16;70:210-8. doi: 10.5604/17322693.1197372. PMID: 27117096
Zheng Z, Ding J, Li X, Wu Z
Rheumatol Int 2015 Nov;35(11):1925-9. Epub 2015 Aug 7 doi: 10.1007/s00296-015-3334-x. PMID: 26248531
Fanouriakis A, Kougkas N, Vassilopoulos D, Fragouli E, Repa A, Sidiropoulos P
Semin Arthritis Rheum 2015 Aug;45(1):60-6. Epub 2015 Mar 26 doi: 10.1016/j.semarthrit.2015.03.004. PMID: 25908179
Lazzerini M, Bramuzzo M, Ventura A
World J Gastroenterol 2014 Jun 21;20(23):7497-504. doi: 10.3748/wjg.v20.i23.7497. PMID: 24966621Free PMC Article

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