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Severe infection

MedGen UID:
1700844
Concept ID:
C5139167
Disease or Syndrome
Synonym: Severe infections
 
HPO: HP:0032169

Definition

A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere infection

Conditions with this feature

Insulin-dependent diabetes mellitus secretory diarrhea syndrome
MedGen UID:
83339
Concept ID:
C0342288
Disease or Syndrome
IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is characterized by systemic autoimmunity, typically beginning in the first year of life. Presentation is most commonly the clinical triad of watery diarrhea, endocrinopathy (most commonly insulin-dependent diabetes mellitus), and eczematous dermatitis. Most children have other autoimmune phenomena including cytopenias, autoimmune hepatitis, or nephropathy; lymphadenopathy, splenomegaly, alopecia, arthritis, and lung disease related to immune dysregulation have all been observed. Fetal presentation of IPEX includes hydrops, echogenic bowel, skin desquamation, IUGR, and fetal akinesia. Without aggressive immunosuppression or bone marrow transplantation, the majority of affected males die within the first one to two years of life from metabolic derangements, severe malabsorption, or sepsis; a few with a milder phenotype have survived into the second or third decade of life.
Syndromic X-linked intellectual disability Lubs type
MedGen UID:
337496
Concept ID:
C1846058
Disease or Syndrome
MECP2 duplication syndrome is a severe neurodevelopmental disorder characterized by early-onset hypotonia, feeding difficulty, gastrointestinal manifestations including gastroesophageal reflux and constipation, delayed psychomotor development leading to severe intellectual disability, poor speech development, progressive spasticity, recurrent respiratory infections (in ~75% of affected individuals), and seizures (in ~50%). MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplication and a range of findings from mild intellectual disability to a phenotype similar to that seen in males. In addition to the core features, autistic behaviors, nonspecific neuroradiologic findings on brain MRI, mottled skin, and urogenital anomalies have been observed in several affected boys.
WHIM syndrome 2
MedGen UID:
1785594
Concept ID:
C5543622
Disease or Syndrome
WHIM syndrome-2 (WHIMS2) is an autosomal recessive immunologic disorder characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow. Affected individuals have recurrent infections, usually bacterial (summary by Auer et al., 2014). In a review of WHIMS, Heusinkveld et al. (2019) noted that there is significant phenotypic variation among patients, such that some individuals may have an 'incomplete' form of the disorder in which 1 or more of the classic tetrad features are not present. In general, the WHIMS phenotype comprises a spectrum of manifestations with variable expressivity. For a discussion of genetic heterogeneity of WHIMS, see 193670.

Professional guidelines

PubMed

Peery AF, Kelly CR, Kao D, Vaughn BP, Lebwohl B, Singh S, Imdad A, Altayar O; AGA Clinical Guidelines Committee. Electronic address: clinicalpractice@gastro.org
Gastroenterology 2024 Mar;166(3):409-434. doi: 10.1053/j.gastro.2024.01.008. PMID: 38395525
Kularatne SA, Dalugama C
Clin Med (Lond) 2022 Jan;22(1):9-13. doi: 10.7861/clinmed.2021-0791. PMID: 35078789Free PMC Article
Baraldi E, Lanari M, Manzoni P, Rossi GA, Vandini S, Rimini A, Romagnoli C, Colonna P, Biondi A, Biban P, Chiamenti G, Bernardini R, Picca M, Cappa M, Magazzù G, Catassi C, Urbino AF, Memo L, Donzelli G, Minetti C, Paravati F, Di Mauro G, Festini F, Esposito S, Corsello G
Ital J Pediatr 2014 Oct 24;40:65. doi: 10.1186/1824-7288-40-65. PMID: 25344148Free PMC Article

Recent clinical studies

Etiology

Sivanandan S, Sankar MJ
BMJ Glob Health 2023 Jun;8(6) doi: 10.1136/bmjgh-2022-010728. PMID: 37277198Free PMC Article
Brancatella A, Viola N, Santini F, Latrofa F
Best Pract Res Clin Endocrinol Metab 2023 Mar;37(2):101742. Epub 2023 Feb 5 doi: 10.1016/j.beem.2023.101742. PMID: 36813660
Mao L, Jin H, Wang M, Hu Y, Chen S, He Q, Chang J, Hong C, Zhou Y, Wang D, Miao X, Li Y, Hu B
JAMA Neurol 2020 Jun 1;77(6):683-690. doi: 10.1001/jamaneurol.2020.1127. PMID: 32275288Free PMC Article
Pastene B, Cassir N, Tankel J, Einav S, Fournier PE, Thomas P, Leone M
Clin Microbiol Infect 2020 Jan;26(1):26-34. Epub 2019 Jul 12 doi: 10.1016/j.cmi.2019.07.005. PMID: 31306791
Yu Z, Pang X, Wu X, Shan C, Jiang S
PLoS One 2018;13(7):e0201667. Epub 2018 Jul 30 doi: 10.1371/journal.pone.0201667. PMID: 30059536Free PMC Article

Diagnosis

Castater C, Bishop E, Santos A, Freedberg M, Kim P, Sciarretta C
Surg Clin North Am 2023 Dec;103(6):1191-1216. Epub 2023 Jul 27 doi: 10.1016/j.suc.2023.06.002. PMID: 37838463
Kularatne SA, Dalugama C
Clin Med (Lond) 2022 Jan;22(1):9-13. doi: 10.7861/clinmed.2021-0791. PMID: 35078789Free PMC Article
Mao L, Jin H, Wang M, Hu Y, Chen S, He Q, Chang J, Hong C, Zhou Y, Wang D, Miao X, Li Y, Hu B
JAMA Neurol 2020 Jun 1;77(6):683-690. doi: 10.1001/jamaneurol.2020.1127. PMID: 32275288Free PMC Article
Yu Z, Pang X, Wu X, Shan C, Jiang S
PLoS One 2018;13(7):e0201667. Epub 2018 Jul 30 doi: 10.1371/journal.pone.0201667. PMID: 30059536Free PMC Article
Leggit JC
Am Fam Physician 2017 Jul 1;96(1):44-51. PMID: 28671378

Therapy

Sivanandan S, Sankar MJ
BMJ Glob Health 2023 Jun;8(6) doi: 10.1136/bmjgh-2022-010728. PMID: 37277198Free PMC Article
Heath PT, Galiza EP, Baxter DN, Boffito M, Browne D, Burns F, Chadwick DR, Clark R, Cosgrove C, Galloway J, Goodman AL, Heer A, Higham A, Iyengar S, Jamal A, Jeanes C, Kalra PA, Kyriakidou C, McAuley DF, Meyrick A, Minassian AM, Minton J, Moore P, Munsoor I, Nicholls H, Osanlou O, Packham J, Pretswell CH, San Francisco Ramos A, Saralaya D, Sheridan RP, Smith R, Soiza RL, Swift PA, Thomson EC, Turner J, Viljoen ME, Albert G, Cho I, Dubovsky F, Glenn G, Rivers J, Robertson A, Smith K, Toback S; 2019nCoV-302 Study Group
N Engl J Med 2021 Sep 23;385(13):1172-1183. Epub 2021 Jun 30 doi: 10.1056/NEJMoa2107659. PMID: 34192426Free PMC Article
Pastene B, Cassir N, Tankel J, Einav S, Fournier PE, Thomas P, Leone M
Clin Microbiol Infect 2020 Jan;26(1):26-34. Epub 2019 Jul 12 doi: 10.1016/j.cmi.2019.07.005. PMID: 31306791
Conde-Agudelo A, Díaz-Rossello JL
Cochrane Database Syst Rev 2016 Aug 23;2016(8):CD002771. doi: 10.1002/14651858.CD002771.pub4. PMID: 27552521Free PMC Article
Houssiau FA, Vasconcelos C, D'Cruz D, Sebastiani GD, Garrido Ed Ede R, Danieli MG, Abramovicz D, Blockmans D, Mathieu A, Direskeneli H, Galeazzi M, Gül A, Levy Y, Petera P, Popovic R, Petrovic R, Sinico RA, Cattaneo R, Font J, Depresseux G, Cosyns JP, Cervera R
Arthritis Rheum 2002 Aug;46(8):2121-31. doi: 10.1002/art.10461. PMID: 12209517

Prognosis

Sivanandan S, Sankar MJ
BMJ Glob Health 2023 Jun;8(6) doi: 10.1136/bmjgh-2022-010728. PMID: 37277198Free PMC Article
Cai J, Lin K, Zhang H, Xue Q, Zhu K, Yuan G, Sun Y, Zhu F, Ai J, Wang S, Zhang W
Emerg Microbes Infect 2023 Dec;12(2):2220578. doi: 10.1080/22221751.2023.2220578. PMID: 37272336Free PMC Article
Tan Y, Shan L, Zhao L, Deng B, Ling Z, Zhang Y, Peng S, Xu J, Duan J, Wang Z, Yu X, Zheng Q, Xu X, Tian Z, Zhang Y, Zhang J, Chang AH, Feng X, Pan J
J Hematol Oncol 2023 Apr 5;16(1):34. doi: 10.1186/s13045-023-01427-3. PMID: 37020231Free PMC Article
Thakkar AN, Tea I, Al-Mallah MH
Methodist Debakey Cardiovasc J 2020 Apr-Jun;16(2):146-154. doi: 10.14797/mdcj-16-2-146. PMID: 32670475Free PMC Article
Conde-Agudelo A, Díaz-Rossello JL
Cochrane Database Syst Rev 2016 Aug 23;2016(8):CD002771. doi: 10.1002/14651858.CD002771.pub4. PMID: 27552521Free PMC Article

Clinical prediction guides

Cano-Gamez E, Burnham KL, Goh C, Allcock A, Malick ZH, Overend L, Kwok A, Smith DA, Peters-Sengers H, Antcliffe D; GAinS Investigators, McKechnie S, Scicluna BP, van der Poll T, Gordon AC, Hinds CJ, Davenport EE, Knight JC, Webster N, Galley H, Taylor J, Hall S, Addison J, Roughton S, Tennant H, Guleri A, Waddington N, Arawwawala D, Durcan J, Short A, Swan K, Williams S, Smolen S, Mitchell-Inwang C, Gordon T, Errington E, Templeton M, Venatesh P, Ward G, McCauley M, Baudouin S, Higham C, Soar J, Grier S, Hall E, Brett S, Kitson D, Wilson R, Mountford L, Moreno J, Hall P, Hewlett J, McKechnie S, Garrard C, Millo J, Young D, Hutton P, Parsons P, Smiths A, Faras-Arraya R, Soar J, Raymode P, Thompson J, Bowrey S, Kazembe S, Rich N, Andreou P, Hales D, Roberts E, Fletcher S, Rosbergen M, Glister G, Cuesta JM, Bion J, Millar J, Perry EJ, Willis H, Mitchell N, Ruel S, Carrera R, Wilde J, Nilson A, Lees S, Kapila A, Jacques N, Atkinson J, Brown A, Prowse H, Krige A, Bland M, Bullock L, Harrison D, Mills G, Humphreys J, Armitage K, Laha S, Baldwin J, Walsh A, Doherty N, Drage S, Ortiz-Ruiz de Gordoa L, Lowes S, Higham C, Walsh H, Calder V, Swan C, Payne H, Higgins D, Andrews S, Mappleback S, Hind C, Garrard C, Watson D, McLees E, Purdy A, Stotz M, Ochelli-Okpue A, Bonner S, Whitehead I, Hugil K, Goodridge V, Cawthor L, Kuper M, Pahary S, Bellingan G, Marshall R, Montgomery H, Ryu JH, Bercades G, Boluda S, Bentley A, Mccalman K, Jefferies F, Knight J, Davenport E, Burnham K, Maugeri N, Radhakrishnan J, Mi Y, Allcock A, Goh C
Sci Transl Med 2022 Nov 2;14(669):eabq4433. doi: 10.1126/scitranslmed.abq4433. PMID: 36322631Free PMC Article
Sun L, Zhang S, Yang Z, Yang F, Wang Z, Li H, Li Y, Sun T
Front Cell Infect Microbiol 2022;12:905132. Epub 2022 Jul 13 doi: 10.3389/fcimb.2022.905132. PMID: 35909965Free PMC Article
Mao L, Jin H, Wang M, Hu Y, Chen S, He Q, Chang J, Hong C, Zhou Y, Wang D, Miao X, Li Y, Hu B
JAMA Neurol 2020 Jun 1;77(6):683-690. doi: 10.1001/jamaneurol.2020.1127. PMID: 32275288Free PMC Article
Yu Z, Pang X, Wu X, Shan C, Jiang S
PLoS One 2018;13(7):e0201667. Epub 2018 Jul 30 doi: 10.1371/journal.pone.0201667. PMID: 30059536Free PMC Article
Johnson D
BMJ Clin Evid 2009 Mar 10;2009 PMID: 19445760Free PMC Article

Recent systematic reviews

Sivanandan S, Sankar MJ
BMJ Glob Health 2023 Jun;8(6) doi: 10.1136/bmjgh-2022-010728. PMID: 37277198Free PMC Article
Zheng YB, Zeng N, Yuan K, Tian SS, Yang YB, Gao N, Chen X, Zhang AY, Kondratiuk AL, Shi PP, Zhang F, Sun J, Yue JL, Lin X, Shi L, Lalvani A, Shi J, Bao YP, Lu L
J Infect Public Health 2023 May;16(5):660-672. Epub 2023 Mar 7 doi: 10.1016/j.jiph.2023.03.005. PMID: 36931142Free PMC Article
Zhang M, Wang H, Tang J, He Y, Xiong T, Li W, Qu Y, Mu D
BMC Pediatr 2021 Mar 15;21(1):127. doi: 10.1186/s12887-021-02599-y. PMID: 33722228Free PMC Article
Nannoni S, de Groot R, Bell S, Markus HS
Int J Stroke 2021 Feb;16(2):137-149. Epub 2020 Nov 11 doi: 10.1177/1747493020972922. PMID: 33103610Free PMC Article
Conde-Agudelo A, Díaz-Rossello JL
Cochrane Database Syst Rev 2016 Aug 23;2016(8):CD002771. doi: 10.1002/14651858.CD002771.pub4. PMID: 27552521Free PMC Article

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