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Deficiency or absence of cytochrome b(-245)

MedGen UID:
375407
Concept ID:
C1844390
Finding
Synonym: Deficiency or absence of cytochrome b
 
HPO: HP:0003514

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency or absence of cytochrome b(-245)

Conditions with this feature

Granulomatous disease, chronic, X-linked
MedGen UID:
336165
Concept ID:
C1844376
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
MedGen UID:
383872
Concept ID:
C1856255
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.

Professional guidelines

PubMed

Turner C, Gardiner MD, Midgley A, Stefanis A
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Crew RJ, Radhakrishnan J, Appel G
Clin Nephrol 2004 Oct;62(4):245-59. doi: 10.5414/cnp62245. PMID: 15524054

Recent clinical studies

Etiology

Lockyer F, McCann S, Moore SE
Nutrients 2021 Oct 28;13(11) doi: 10.3390/nu13113848. PMID: 34836103Free PMC Article
DiBaise M, Tarleton SM
Nutr Clin Pract 2019 Aug;34(4):490-503. Epub 2019 May 29 doi: 10.1002/ncp.10321. PMID: 31144371
Georgieff MK, Krebs NF, Cusick SE
Annu Rev Nutr 2019 Aug 21;39:121-146. Epub 2019 May 15 doi: 10.1146/annurev-nutr-082018-124213. PMID: 31091416Free PMC Article
Breymann C
Semin Hematol 2015 Oct;52(4):339-47. Epub 2015 Jul 10 doi: 10.1053/j.seminhematol.2015.07.003. PMID: 26404445
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205

Diagnosis

Petraglia F, Dolmans MM
Fertil Steril 2022 Oct;118(4):605-606. doi: 10.1016/j.fertnstert.2022.08.850. PMID: 36182259
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD)
Orphanet J Rare Dis 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. PMID: 32456656Free PMC Article
Capone K, Sentongo T
Pediatr Ann 2019 Nov 1;48(11):e434-e440. doi: 10.3928/19382359-20191015-01. PMID: 31710362
Breymann C
Semin Hematol 2015 Oct;52(4):339-47. Epub 2015 Jul 10 doi: 10.1053/j.seminhematol.2015.07.003. PMID: 26404445

Therapy

Butcher NJ, Monsour A, Mew EJ, Chan AW, Moher D, Mayo-Wilson E, Terwee CB, Chee-A-Tow A, Baba A, Gavin F, Grimshaw JM, Kelly LE, Saeed L, Thabane L, Askie L, Smith M, Farid-Kapadia M, Williamson PR, Szatmari P, Tugwell P, Golub RM, Monga S, Vohra S, Marlin S, Ungar WJ, Offringa M
JAMA 2022 Dec 13;328(22):2252-2264. doi: 10.1001/jama.2022.21022. PMID: 36511921
Pong AW, Ross J, Tyrlikova I, Giermek AJ, Kohli MP, Khan YA, Salgado RD, Klein P
Expert Opin Emerg Drugs 2022 Mar;27(1):75-90. Epub 2022 Apr 1 doi: 10.1080/14728214.2022.2059464. PMID: 35341431
Lamb YN
Drugs 2022 Feb;82(2):227-234. doi: 10.1007/s40265-021-01663-2. PMID: 35041176
Urban IA, Montero E, Monje A, Sanz-Sánchez I
J Clin Periodontol 2019 Jun;46 Suppl 21:319-339. doi: 10.1111/jcpe.13061. PMID: 30667522
Joseph PD, Craig JC, Caldwell PH
Br J Clin Pharmacol 2015 Mar;79(3):357-69. doi: 10.1111/bcp.12305. PMID: 24325152Free PMC Article

Prognosis

Nordstrøm M, Retterstøl K, Hope S, Kolset SO
Lancet Child Adolesc Health 2020 Jun;4(6):455-464. doi: 10.1016/S2352-4642(19)30400-6. PMID: 32450124
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J Pediatric Infect Dis Soc 2017 Sep 1;6(suppl_1):S3-S11. doi: 10.1093/jpids/pix046. PMID: 28927200Free PMC Article
McGovern MM, Avetisyan R, Sanson BJ, Lidove O
Orphanet J Rare Dis 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. PMID: 28228103Free PMC Article
Black RE, Allen LH, Bhutta ZA, Caulfield LE, de Onis M, Ezzati M, Mathers C, Rivera J; Maternal and Child Undernutrition Study Group
Lancet 2008 Jan 19;371(9608):243-60. doi: 10.1016/S0140-6736(07)61690-0. PMID: 18207566
Schulman C, Lunenfeld B
World J Urol 2002 May;20(1):4-10. doi: 10.1007/s00345-002-0258-3. PMID: 12088188

Clinical prediction guides

Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Collins CJ, Yi F, Dayuha R, Duong P, Horslen S, Camarata M, Coskun AK, Houwen RHJ, Pop TL, Zoller H, Yoo HW, Jung SW, Weiss KH, Schilsky ML, Ferenci P, Hahn SH
Gastroenterology 2021 Jun;160(7):2367-2382.e1. Epub 2021 Feb 25 doi: 10.1053/j.gastro.2021.02.052. PMID: 33640437Free PMC Article
Weaver RJ, Blomme EA, Chadwick AE, Copple IM, Gerets HHJ, Goldring CE, Guillouzo A, Hewitt PG, Ingelman-Sundberg M, Jensen KG, Juhila S, Klingmüller U, Labbe G, Liguori MJ, Lovatt CA, Morgan P, Naisbitt DJ, Pieters RHH, Snoeys J, van de Water B, Williams DP, Park BK
Nat Rev Drug Discov 2020 Feb;19(2):131-148. Epub 2019 Nov 20 doi: 10.1038/s41573-019-0048-x. PMID: 31748707
Epstein JI, Egevad L, Amin MB, Delahunt B, Srigley JR, Humphrey PA; Grading Committee
Am J Surg Pathol 2016 Feb;40(2):244-52. doi: 10.1097/PAS.0000000000000530. PMID: 26492179
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205

Recent systematic reviews

Tamblyn JA, Pilarski NSP, Markland AD, Marson EJ, Devall A, Hewison M, Morris RK, Coomarasamy A
Fertil Steril 2022 Jul;118(1):111-122. Epub 2022 May 28 doi: 10.1016/j.fertnstert.2022.04.017. PMID: 35637024
Venkatesh U, Sharma A, Ananthan VA, Subbiah P, Durga R; CSIR Summer Research training team
J Nutr Sci 2021;10:e110. Epub 2021 Dec 21 doi: 10.1017/jns.2021.102. PMID: 35059191Free PMC Article
Garcia-Casal MN, Pasricha SR, Martinez RX, Lopez-Perez L, Peña-Rosas JP
Cochrane Database Syst Rev 2021 May 24;5(5):CD011817. doi: 10.1002/14651858.CD011817.pub2. PMID: 34028001Free PMC Article
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA
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