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Recurrent systemic pyogenic infections

MedGen UID:
870741
•Concept ID:
C4025196
•
Disease or Syndrome
HPO: HP:0005429

Definition

Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRecurrent systemic pyogenic infections

Conditions with this feature

Chédiak-Higashi syndrome
MedGen UID:
3347
•Concept ID:
C0007965
•
Disease or Syndrome
Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism, immunodeficiency, and a mild bleeding tendency. Approximately 85% of affected individuals develop the accelerated phase, or hemophagocytic lymphohistiocytosis, a life-threatening, hyperinflammatory condition. All affected individuals including adolescents and adults with atypical CHS and children with classic CHS who have successfully undergone allogenic hematopoietic stem cell transplantation (HSCT) develop neurologic findings during early adulthood.
See: Condition Record
Chédiak-Higashi syndrome

Professional guidelines

PubMed

Biological treatments: new weapons in the management of monogenic autoinflammatory disorders.
Vitale A, Rigante D, Lucherini OM, Caso F, Muscari I, Magnotti F, Brizi MG, Guerrini S, Patti M, Punzi L, Galeazzi M, Cantarini L
Mediators Inflamm 2013;2013:939847. Epub 2013 Jul 21 doi: 10.1155/2013/939847. PMID: 23970817Free PMC Article
Unusual cases of acute cholecystitis and cholangitis: Tokyo Guidelines.
Yasuda H, Takada T, Kawarada Y, Nimura Y, Hirata K, Kimura Y, Wada K, Miura F, Hirota M, Mayumi T, Yoshida M, Nagino M, Yamashita Y, Hilvano SC, Kim SW
J Hepatobiliary Pancreat Surg 2007;14(1):98-113. Epub 2007 Jan 30 doi: 10.1007/s00534-006-1162-9. PMID: 17252303Free PMC Article

Recent clinical studies

Diagnosis

Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.
Jia A, James E, Lu HY, Sharma M, Modi BP, Biggs CM, Hildebrand KJ, Chomyn A, Erdle S, Kular H, Turvey SE
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a005298. PMID: 32532880Free PMC Article

Prognosis

Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.
Jia A, James E, Lu HY, Sharma M, Modi BP, Biggs CM, Hildebrand KJ, Chomyn A, Erdle S, Kular H, Turvey SE
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a005298. PMID: 32532880Free PMC Article

Clinical prediction guides

Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.
Jia A, James E, Lu HY, Sharma M, Modi BP, Biggs CM, Hildebrand KJ, Chomyn A, Erdle S, Kular H, Turvey SE
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a005298. PMID: 32532880Free PMC Article

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