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Respiratory tract infection

MedGen UID:
11199
Concept ID:
C0035243
Disease or Syndrome
Synonyms: Infection, Respiratory System; Infection, Respiratory Tract; Infections, Respiratory; Infections, Respiratory Tract; Respiratory Infections; Respiratory System Infection; Respiratory System Infections; Respiratory Tract Infection; Respiratory Tract Infections
SNOMED CT: Respiratory tract infection (275498002); RTI - Respiratory tract infection (275498002)
 
HPO: HP:0011947

Definition

An infection of the upper or lower respiratory tract. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRespiratory tract infection

Conditions with this feature

Agenesis of the corpus callosum with peripheral neuropathy
MedGen UID:
162893
Concept ID:
C0795950
Disease or Syndrome
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy, and by variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years.
Tooth agenesis, selective, X-linked, 1
MedGen UID:
410143
Concept ID:
C1970757
Disease or Syndrome
Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.
Peroxisome biogenesis disorder 11B
MedGen UID:
766915
Concept ID:
C3554001
Disease or Syndrome
The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see 214100.
Severe combined immunodeficiency due to CTPS1 deficiency
MedGen UID:
863054
Concept ID:
C4014617
Disease or Syndrome
IMD24 is an autosomal recessive immunodeficiency characterized by the impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpesviruses, including Epstein-Barr virus (EBV) and varicella zoster virus (VZV); they also suffer from recurrent encapsulated bacterial infections, a spectrum typical of a combined deficiency of adaptive immunity (CID) (summary by Martin et al., 2014).
DOCK2 deficiency
MedGen UID:
901370
Concept ID:
C4225328
Disease or Syndrome
Immunodeficiency-40 is an autosomal recessive primary form of combined immunodeficiency mainly affecting T-cell number and function, with other more variable defects in B-cell and NK-cell function. Patients have onset of severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation (summary by Dobbs et al., 2015).
Congenital myasthenic syndrome 11
MedGen UID:
902189
Concept ID:
C4225367
Disease or Syndrome
Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.
Neurodevelopmental disorder with visual defects and brain anomalies
MedGen UID:
1684774
Concept ID:
C5231404
Disease or Syndrome
Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is characterized by global developmental delay with impaired intellectual development and speech delay, variable visual defects, including retinitis pigmentosa and optic atrophy, hypotonia or hypertonia, and variable structural brain abnormalities. Other nonspecific features may be found (summary by Okur et al., 2019).
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
MedGen UID:
1764743
Concept ID:
C5436530
Disease or Syndrome
Congenital myopathy-17 (CMYP17) is an autosomal recessive muscle disorder. Affected individuals present at birth with hypotonia and respiratory insufficiency associated with high diaphragmatic dome on imaging. Other features include poor overall growth, pectus excavatum, dysmorphic facies, and renal anomalies in some. The severity of the disorder is highly variable: some patients may have delayed motor development with mildly decreased endurance, whereas others have more severe hypotonia associated with distal arthrogryposis and lung hypoplasia, resulting in early death (summary by Watson et al., 2016 and Lopes et al., 2018). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Diarrhea 12, with microvillus atrophy
MedGen UID:
1794152
Concept ID:
C5561942
Disease or Syndrome
Microvillus inclusion disease (DIAR12) is a congenital enteropathy characterized by neonatal-onset intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. Patients may tolerate limited enteral feeding, but are dependent on total parenteral nutrition (TPN) and require eventual small bowel and/or liver transplantation. Pathologic hallmarks include variable loss of brush-border microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes (summary by Wiegerinck et al., 2014). Another form of microvillus inclusion disease, MVID1 (DIAR2; 251850), is caused by mutation in the MYO5B gene (606540). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). Mutations in the STX3 gene that affect only isoform A (STX3A) cause DIAR12, whereas mutations in STX3 affecting both STX3A and isoform B (STX3B), which predominates in retinal tissue, cause a syndrome involving severe early-onset retinal dystrophy and MVID (RDMVID; 619446).

Professional guidelines

PubMed

Chovatiya R, Paller AS
J Allergy Clin Immunol 2021 Oct;148(4):927-940. Epub 2021 Aug 24 doi: 10.1016/j.jaci.2021.08.009. PMID: 34437922Free PMC Article
Chalmers SJ, Wylam ME
Methods Mol Biol 2020;2069:229-251. doi: 10.1007/978-1-4939-9849-4_16. PMID: 31523777
Harmes KM, Blackwood RA, Burrows HL, Cooke JM, Harrison RV, Passamani PP
Am Fam Physician 2013 Oct 1;88(7):435-40. PMID: 24134083

Recent clinical studies

Etiology

Drysdale SB, Cathie K, Flamein F, Knuf M, Collins AM, Hill HC, Kaiser F, Cohen R, Pinquier D, Felter CT, Vassilouthis NC, Jin J, Bangert M, Mari K, Nteene R, Wague S, Roberts M, Tissières P, Royal S, Faust SN; HARMONIE Study Group
N Engl J Med 2023 Dec 28;389(26):2425-2435. doi: 10.1056/NEJMoa2309189. PMID: 38157500
Christian MT, Webb NJA, Mehta S, Woolley RL, Afentou N, Frew E, Brettell EA, Khan AR, Milford DV, Bockenhauer D, Saleem MA, Hall AS, Koziell A, Maxwell H, Hegde S, Prajapati H, Gilbert RD, Jones C, McKeever K, Cook W, Ives N
JAMA Pediatr 2022 Mar 1;176(3):236-243. doi: 10.1001/jamapediatrics.2021.5189. PMID: 34928294Free PMC Article
Wang Y, Eccles R, Bell J, Chua AH, Salvi S, Schellack N, Marks P, Wong YC
Expert Rev Respir Med 2021 Dec;15(12):1517-1523. Epub 2021 Oct 19 doi: 10.1080/17476348.2021.1988569. PMID: 34613861
Claassen-Weitz S, Lim KYL, Mullally C, Zar HJ, Nicol MP
Clin Microbiol Infect 2021 Sep;27(9):1262-1270. Epub 2021 Jun 7 doi: 10.1016/j.cmi.2021.05.034. PMID: 34111578Free PMC Article
Li KL, Wang BZ, Li ZP, Li YL, Liang JJ
World J Pediatr 2019 Jun;15(3):255-261. Epub 2019 Apr 24 doi: 10.1007/s12519-019-00248-0. PMID: 31020541Free PMC Article

Diagnosis

Chapman R, Jones L, D'Angelo A, Suliman A, Anwar M, Bagby S
Lung 2023 Apr;201(2):171-179. Epub 2023 Apr 2 doi: 10.1007/s00408-023-00612-y. PMID: 37009923Free PMC Article
Christian MT, Webb NJA, Mehta S, Woolley RL, Afentou N, Frew E, Brettell EA, Khan AR, Milford DV, Bockenhauer D, Saleem MA, Hall AS, Koziell A, Maxwell H, Hegde S, Prajapati H, Gilbert RD, Jones C, McKeever K, Cook W, Ives N
JAMA Pediatr 2022 Mar 1;176(3):236-243. doi: 10.1001/jamapediatrics.2021.5189. PMID: 34928294Free PMC Article
Wang Y, Eccles R, Bell J, Chua AH, Salvi S, Schellack N, Marks P, Wong YC
Expert Rev Respir Med 2021 Dec;15(12):1517-1523. Epub 2021 Oct 19 doi: 10.1080/17476348.2021.1988569. PMID: 34613861
Zheng Y, Qiu X, Wang T, Zhang J
Front Cell Infect Microbiol 2021;11:694756. Epub 2021 Sep 9 doi: 10.3389/fcimb.2021.694756. PMID: 34568089Free PMC Article
Palmer LB
Curr Opin Pulm Med 2009 May;15(3):230-5. doi: 10.1097/MCP.0b013e3283292650. PMID: 19387351

Therapy

Simões EAF, Madhi SA, Muller WJ, Atanasova V, Bosheva M, Cabañas F, Baca Cots M, Domachowske JB, Garcia-Garcia ML, Grantina I, Nguyen KA, Zar HJ, Berglind A, Cummings C, Griffin MP, Takas T, Yuan Y, Wählby Hamrén U, Leach A, Villafana T
Lancet Child Adolesc Health 2023 Mar;7(3):180-189. Epub 2023 Jan 9 doi: 10.1016/S2352-4642(22)00321-2. PMID: 36634694Free PMC Article
Lebwohl MG, Stein Gold L, Strober B, Papp KA, Armstrong AW, Bagel J, Kircik L, Ehst B, Hong HC, Soung J, Fromowitz J, Guenthner S, Piscitelli SC, Rubenstein DS, Brown PM, Tallman AM, Bissonnette R
N Engl J Med 2021 Dec 9;385(24):2219-2229. doi: 10.1056/NEJMoa2103629. PMID: 34879448
Gautret P, Lagier JC, Parola P, Hoang VT, Meddeb L, Mailhe M, Doudier B, Courjon J, Giordanengo V, Vieira VE, Tissot Dupont H, Honoré S, Colson P, Chabrière E, La Scola B, Rolain JM, Brouqui P, Raoult D
Int J Antimicrob Agents 2020 Jul;56(1):105949. Epub 2020 Mar 20 doi: 10.1016/j.ijantimicag.2020.105949. PMID: 32205204Free PMC Article
Martineau AR, Jolliffe DA, Hooper RL, Greenberg L, Aloia JF, Bergman P, Dubnov-Raz G, Esposito S, Ganmaa D, Ginde AA, Goodall EC, Grant CC, Griffiths CJ, Janssens W, Laaksi I, Manaseki-Holland S, Mauger D, Murdoch DR, Neale R, Rees JR, Simpson S Jr, Stelmach I, Kumar GT, Urashima M, Camargo CA Jr
BMJ 2017 Feb 15;356:i6583. doi: 10.1136/bmj.i6583. PMID: 28202713Free PMC Article
Gadomski AM, Scribani MB
Cochrane Database Syst Rev 2014 Jun 17;2014(6):CD001266. doi: 10.1002/14651858.CD001266.pub4. PMID: 24937099Free PMC Article

Prognosis

Wu S, Xu Y, Yang L, Guo L, Jiang X
Front Immunol 2023;14:1294416. Epub 2023 Nov 29 doi: 10.3389/fimmu.2023.1294416. PMID: 38106423Free PMC Article
Duan Y, Jiang M, Huang Q, Jia M, Yang W, Feng L
Influenza Other Respir Viruses 2023 May;17(5):e13145. Epub 2023 May 22 doi: 10.1111/irv.13145. PMID: 37223668Free PMC Article
Poremski D, Mok YM, Lam GFK, Dev R, Chua HC, Fung DSS
East Asian Arch Psychiatry 2022 Jun;32(2):34-38. doi: 10.12809/eaap2128. PMID: 35732478
Rai E, Alaraimi R, Al Aamri I
Paediatr Anaesth 2022 Feb;32(2):181-190. Epub 2021 Dec 27 doi: 10.1111/pan.14382. PMID: 34927318
van Rhee F, Wong RS, Munshi N, Rossi JF, Ke XY, Fosså A, Simpson D, Capra M, Liu T, Hsieh RK, Goh YT, Zhu J, Cho SG, Ren H, Cavet J, Bandekar R, Rothman M, Puchalski TA, Reddy M, van de Velde H, Vermeulen J, Casper C
Lancet Oncol 2014 Aug;15(9):966-74. Epub 2014 Jul 17 doi: 10.1016/S1470-2045(14)70319-5. PMID: 25042199

Clinical prediction guides

Namikawa H, Imoto W, Yamada K, Tochino Y, Kaneko Y, Kakeya H, Shuto T
Emerg Microbes Infect 2023 Dec;12(1):2217951. doi: 10.1080/22221751.2023.2217951. PMID: 37219067Free PMC Article
Huang Y, Chen CL, Cen LJ, Li HM, Lin ZH, Zhu SY, Duan CY, Zhang RL, Pan CX, Zhang XF, Zhang XX, He ZF, Shi MX, Zhong NS, Guan WJ
Emerg Microbes Infect 2023 Dec;12(1):2202277. doi: 10.1080/22221751.2023.2202277. PMID: 37038356Free PMC Article
Kwon O, Senna MM, Sinclair R, Ito T, Dutronc Y, Lin CY, Yu G, Chiasserini C, McCollam J, Wu WS, King B
Am J Clin Dermatol 2023 May;24(3):443-451. Epub 2023 Mar 1 doi: 10.1007/s40257-023-00764-w. PMID: 36855020Free PMC Article
Wollenberg A, Howell MD, Guttman-Yassky E, Silverberg JI, Kell C, Ranade K, Moate R, van der Merwe R
J Allergy Clin Immunol 2019 Jan;143(1):135-141. Epub 2018 Jun 12 doi: 10.1016/j.jaci.2018.05.029. PMID: 29906525
Langelier C, Kalantar KL, Moazed F, Wilson MR, Crawford ED, Deiss T, Belzer A, Bolourchi S, Caldera S, Fung M, Jauregui A, Malcolm K, Lyden A, Khan L, Vessel K, Quan J, Zinter M, Chiu CY, Chow ED, Wilson J, Miller S, Matthay MA, Pollard KS, Christenson S, Calfee CS, DeRisi JL
Proc Natl Acad Sci U S A 2018 Dec 26;115(52):E12353-E12362. Epub 2018 Nov 27 doi: 10.1073/pnas.1809700115. PMID: 30482864Free PMC Article

Recent systematic reviews

Manothummetha K, Mongkolkaew T, Tovichayathamrong P, Boonyawairote R, Meejun T, Srisurapanont K, Phongkhun K, Sanguankeo A, Torvorapanit P, Moonla C, Plongla R, Kates OS, Avery RK, Nematollahi S, Permpalung N
Clin Microbiol Infect 2023 Oct;29(10):1272-1279. Epub 2023 Apr 26 doi: 10.1016/j.cmi.2023.04.021. PMID: 37116860
Garegnani L, Styrmisdóttir L, Roson Rodriguez P, Escobar Liquitay CM, Esteban I, Franco JV
Cochrane Database Syst Rev 2021 Nov 16;11(11):CD013757. doi: 10.1002/14651858.CD013757.pub2. PMID: 34783356Free PMC Article
Claassen-Weitz S, Lim KYL, Mullally C, Zar HJ, Nicol MP
Clin Microbiol Infect 2021 Sep;27(9):1262-1270. Epub 2021 Jun 7 doi: 10.1016/j.cmi.2021.05.034. PMID: 34111578Free PMC Article
Martineau AR, Jolliffe DA, Hooper RL, Greenberg L, Aloia JF, Bergman P, Dubnov-Raz G, Esposito S, Ganmaa D, Ginde AA, Goodall EC, Grant CC, Griffiths CJ, Janssens W, Laaksi I, Manaseki-Holland S, Mauger D, Murdoch DR, Neale R, Rees JR, Simpson S Jr, Stelmach I, Kumar GT, Urashima M, Camargo CA Jr
BMJ 2017 Feb 15;356:i6583. doi: 10.1136/bmj.i6583. PMID: 28202713Free PMC Article
Gadomski AM, Scribani MB
Cochrane Database Syst Rev 2014 Jun 17;2014(6):CD001266. doi: 10.1002/14651858.CD001266.pub4. PMID: 24937099Free PMC Article

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