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Abnormal bronchus physiology

MedGen UID:
1379715
Concept ID:
C4476771
Finding
HPO: HP:0025427

Definition

Any anomaly of the function of the bronchi. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal bronchus physiology

Conditions with this feature

Immunodeficiency 27A
MedGen UID:
860386
Concept ID:
C4011949
Disease or Syndrome
Immunodeficiency-27A (IMD27A) results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). Bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (147570), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008).

Professional guidelines

PubMed

Navaratnam V, Forrester DL, Eg KP, Chang AB
Respirology 2019 Feb;24(2):115-126. Epub 2018 Nov 30 doi: 10.1111/resp.13451. PMID: 30500093
Jaeggi E, Chitayat D, Golding F, Kim P, Yoo SJ
Cardiol Young 2008 Jun;18(3):337-42. Epub 2008 May 6 doi: 10.1017/S1047951108002308. PMID: 18460225
Sethi GR, Batra V
Indian J Pediatr 2000 Feb;67(2):133-9. doi: 10.1007/BF02726189. PMID: 10832241

Recent clinical studies

Etiology

Hysinger EB
Curr Probl Pediatr Adolesc Health Care 2018 Apr;48(4):113-118. Epub 2018 Apr 3 doi: 10.1016/j.cppeds.2018.03.002. PMID: 29622320
Cummings KJ, Kreiss K
Semin Respir Crit Care Med 2015 Jun;36(3):366-78. Epub 2015 May 29 doi: 10.1055/s-0035-1549452. PMID: 26024345Free PMC Article
Pappalettera M, Aliberti S, Castellotti P, Ruvolo L, Giunta V, Blasi F
Clin Respir J 2009 Jul;3(3):126-34. doi: 10.1111/j.1752-699X.2009.00131.x. PMID: 20298395
King PT
Int J Chron Obstruct Pulmon Dis 2009;4:411-9. Epub 2009 Nov 29 doi: 10.2147/copd.s6133. PMID: 20037680Free PMC Article
Macchiarini P, Jungebluth P, Go T, Asnaghi MA, Rees LE, Cogan TA, Dodson A, Martorell J, Bellini S, Parnigotto PP, Dickinson SC, Hollander AP, Mantero S, Conconi MT, Birchall MA
Lancet 2008 Dec 13;372(9655):2023-30. Epub 2008 Nov 18 doi: 10.1016/S0140-6736(08)61598-6. PMID: 19022496

Diagnosis

Catano J, Uzunhan Y, Paule R, Dion J, Régent A, Legendre P, Gonin F, Martinod E, Cohen P, Puéchal X, Le Guern V, Mouthon L, Coste A, Lorut C, La Croix C, Périé S, Terrier B
Chest 2022 Jan;161(1):257-265. Epub 2021 Jul 26 doi: 10.1016/j.chest.2021.07.037. PMID: 34324839
Swaminathan AC, Carney JM, Tailor TD, Palmer SM
Ann Am Thorac Soc 2020 Mar;17(3):253-263. doi: 10.1513/AnnalsATS.201907-569CME. PMID: 31860801
Hysinger EB
Curr Probl Pediatr Adolesc Health Care 2018 Apr;48(4):113-118. Epub 2018 Apr 3 doi: 10.1016/j.cppeds.2018.03.002. PMID: 29622320
Simon M, Vremaroiu P, Andrei F
J Bronchology Interv Pulmonol 2014 Apr;21(2):145-9. doi: 10.1097/LBR.0000000000000068. PMID: 24739689
Pappalettera M, Aliberti S, Castellotti P, Ruvolo L, Giunta V, Blasi F
Clin Respir J 2009 Jul;3(3):126-34. doi: 10.1111/j.1752-699X.2009.00131.x. PMID: 20298395

Therapy

Catano J, Uzunhan Y, Paule R, Dion J, Régent A, Legendre P, Gonin F, Martinod E, Cohen P, Puéchal X, Le Guern V, Mouthon L, Coste A, Lorut C, La Croix C, Périé S, Terrier B
Chest 2022 Jan;161(1):257-265. Epub 2021 Jul 26 doi: 10.1016/j.chest.2021.07.037. PMID: 34324839
Bai Y, Liu Y, Su Z, Ma Y, Ren C, Zhao R, Ji HL
J Med Genet 2018 Mar;55(3):143-149. Epub 2018 Jan 4 doi: 10.1136/jmedgenet-2017-104960. PMID: 29301855
Cummings KJ, Kreiss K
Semin Respir Crit Care Med 2015 Jun;36(3):366-78. Epub 2015 May 29 doi: 10.1055/s-0035-1549452. PMID: 26024345Free PMC Article
Pappalettera M, Aliberti S, Castellotti P, Ruvolo L, Giunta V, Blasi F
Clin Respir J 2009 Jul;3(3):126-34. doi: 10.1111/j.1752-699X.2009.00131.x. PMID: 20298395
Wistuba II, Gazdar AF
Annu Rev Pathol 2006;1:331-48. doi: 10.1146/annurev.pathol.1.110304.100103. PMID: 18039118

Prognosis

Catano J, Uzunhan Y, Paule R, Dion J, Régent A, Legendre P, Gonin F, Martinod E, Cohen P, Puéchal X, Le Guern V, Mouthon L, Coste A, Lorut C, La Croix C, Périé S, Terrier B
Chest 2022 Jan;161(1):257-265. Epub 2021 Jul 26 doi: 10.1016/j.chest.2021.07.037. PMID: 34324839
Martinez-Garcia MA, Miravitlles M
Int J Chron Obstruct Pulmon Dis 2017;12:1401-1411. Epub 2017 May 11 doi: 10.2147/COPD.S132961. PMID: 28546748Free PMC Article
Borie R, Wislez M, Antoine M, Copie-Bergman C, Thieblemont C, Cadranel J
Eur Respir J 2016 Apr;47(4):1244-60. Epub 2016 Jan 21 doi: 10.1183/13993003.01701-2015. PMID: 26797028
Pappalettera M, Aliberti S, Castellotti P, Ruvolo L, Giunta V, Blasi F
Clin Respir J 2009 Jul;3(3):126-34. doi: 10.1111/j.1752-699X.2009.00131.x. PMID: 20298395
Ip MS, Lam WK
Respirology 1996 Jun;1(2):107-14. doi: 10.1111/j.1440-1843.1996.tb00018.x. PMID: 9434325

Clinical prediction guides

Catano J, Uzunhan Y, Paule R, Dion J, Régent A, Legendre P, Gonin F, Martinod E, Cohen P, Puéchal X, Le Guern V, Mouthon L, Coste A, Lorut C, La Croix C, Périé S, Terrier B
Chest 2022 Jan;161(1):257-265. Epub 2021 Jul 26 doi: 10.1016/j.chest.2021.07.037. PMID: 34324839
Samareh-Fekri M, Hashemi Bajgani SM, Shafahi A, Shafiepour M, Yazdani R, Ahmadpour Baghdadabad MH
Arch Iran Med 2021 Jun 1;24(6):467-472. doi: 10.34172/aim.2021.67. PMID: 34488309
Hysinger EB
Curr Probl Pediatr Adolesc Health Care 2018 Apr;48(4):113-118. Epub 2018 Apr 3 doi: 10.1016/j.cppeds.2018.03.002. PMID: 29622320
Hewitt RJ, Butler CR, Maughan EF, Elliott MJ
Semin Pediatr Surg 2016 Jun;25(3):144-9. Epub 2016 Feb 19 doi: 10.1053/j.sempedsurg.2016.02.007. PMID: 27301600
Simon M, Vremaroiu P, Andrei F
J Bronchology Interv Pulmonol 2014 Apr;21(2):145-9. doi: 10.1097/LBR.0000000000000068. PMID: 24739689

Recent systematic reviews

van Mastrigt E, Logie K, Ciet P, Reiss IK, Duijts L, Pijnenburg MW, Tiddens HA
Pediatr Pulmonol 2016 Sep;51(9):975-86. Epub 2016 May 5 doi: 10.1002/ppul.23446. PMID: 27148803

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