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Recurrent staphylococcal infections

MedGen UID:
870417
Concept ID:
C4024862
Finding
HPO: HP:0007499

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRecurrent staphylococcal infections

Conditions with this feature

Leukocyte adhesion deficiency 1
MedGen UID:
98310
Concept ID:
C0398738
Disease or Syndrome
Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression. Genetic Heterogeneity of Leukocyte Adhesion Deficiency Also see LAD2 (266265), caused by mutation in the SLC35C1 gene (605881), and LAD3 (612840), caused by mutation in the FERMT3 gene (607901).
Immunodeficiency 67
MedGen UID:
375137
Concept ID:
C1843256
Disease or Syndrome
Immunodeficiency-67 (IMD67) is an autosomal recessive primary immunodeficiency characterized by recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae and Staphylococcus aureus; Pseudomonas and atypical Mycobacteria may also be observed. IMD67 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis representing up to 41% of the bacterial infections. The mortality rate in early childhood is high, with most deaths occurring before 8 years of age. Affected individuals have an impaired inflammatory response to infection, including lack of fever and neutropenia, although erythrocyte sedimentation rate (ESR) and C-reactive protein may be elevated. General immunologic workup tends to be normal, with normal levels of B cells, T cells, and NK cells. However, more detailed studies indicate impaired cytokine response to lipopolysaccharide (LPS) and IL1B (147720) stimulation; response to TNFA (191160) is usually normal. Patients have good antibody responses to most vaccinations, with the notable exception of pneumococcal vaccination. Viral, fungal, and parasitic infections are not generally observed. Early detection is critical in early childhood because prophylactic treatment with IVIg or certain antibiotics is effective; the disorder tends to improve naturally around adolescence. At the molecular level, the disorder results from impaired function of selective Toll receptor (see TLR4, 603030)/IL1R (see IL1R1, 147810) signaling pathways that ultimately activate NFKB (164011) to produce cytokines (summary by Ku et al., 2007; Picard et al., 2010; Grazioli et al., 2016). See also IMD68 (612260), caused by mutation in the MYD88 gene (602170), which shows a similar phenotype to IMD67. As the MYD88 and IRAK4 genes interact in the same intracellular signaling pathway, the clinical and cellular features are almost indistinguishable (summary by Picard et al., 2010).
Immunodeficiency 23
MedGen UID:
862808
Concept ID:
C4014371
Disease or Syndrome
IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity (summary by Bjorksten and Lundmark, 1976 and Zhang et al., 2014).

Professional guidelines

PubMed

Yetmar ZA, Khodadadi RB, Go JR, Chesdachai S, Abu Saleh OM
Eur J Clin Microbiol Infect Dis 2023 Apr;42(4):423-430. Epub 2023 Feb 17 doi: 10.1007/s10096-023-04575-z. PMID: 36800065
Kavanagh N, Ryan EJ, Widaa A, Sexton G, Fennell J, O'Rourke S, Cahill KC, Kearney CJ, O'Brien FJ, Kerrigan SW
Clin Microbiol Rev 2018 Apr;31(2) Epub 2018 Feb 14 doi: 10.1128/CMR.00084-17. PMID: 29444953Free PMC Article
Hatzenbuehler J, Pulling TJ
Am Fam Physician 2011 Nov 1;84(9):1027-33. PMID: 22046943

Recent clinical studies

Etiology

Bocchini CE, Mason EO, Hulten KG, Hammerman WA, Kaplan SL
Pediatr Infect Dis J 2013 Nov;32(11):1189-93. doi: 10.1097/INF.0b013e3182a5c30d. PMID: 23877623
Erbagci Z
Pediatr Dermatol 2008 Jan-Feb;25(1):28-33. doi: 10.1111/j.1525-1470.2007.00577.x. PMID: 18304149
Leigh DA, Joy G
J Antimicrob Chemother 1993 Jun;31(6):909-17. doi: 10.1093/jac/31.6.909. PMID: 8360128

Diagnosis

Gohar Ali M, Zubairi ABS, Qamar FN
BMJ Case Rep 2018 Nov 8;2018 doi: 10.1136/bcr-2018-226074. PMID: 30413445Free PMC Article
AlKhater SA
BMC Neurol 2016 Apr 26;16:54. doi: 10.1186/s12883-016-0578-3. PMID: 27113444Free PMC Article
Ohadian Moghadam S, Pourmand MR, Aminharati F
J Infect Dev Ctries 2014 Dec 15;8(12):1511-7. doi: 10.3855/jidc.5514. PMID: 25500648
Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky BH, Grimbacher B
J Pediatr 2004 Jan;144(1):93-9. doi: 10.1016/S0022-3476(03)00449-9. PMID: 14722525
Seligmann BE, Gallin JI
J Clin Invest 1980 Sep;66(3):493-503. doi: 10.1172/JCI109880. PMID: 6249851Free PMC Article

Therapy

Watkins KE, Unnikrishnan M
Adv Appl Microbiol 2020;112:105-141. Epub 2020 May 27 doi: 10.1016/bs.aambs.2020.05.001. PMID: 32762866
Pandey S, Sahukhal GS, Elasri MO
J Bacteriol 2019 Nov 1;201(21) Epub 2019 Oct 4 doi: 10.1128/JB.00417-19. PMID: 31427392Free PMC Article
AlKhater SA
BMC Neurol 2016 Apr 26;16:54. doi: 10.1186/s12883-016-0578-3. PMID: 27113444Free PMC Article
Ito R, Mori M, Katakura S, Kobayashi N, Naruto T, Osamura Y, Aihara Y, Yokota S
Allergy 2003 Apr;58(4):329-36. doi: 10.1034/j.1398-9995.2003.00099.x. PMID: 12708982
Diri E, Buscemi DM, Nugent KM
Am J Med Sci 2003 Feb;325(2):101-5. doi: 10.1097/00000441-200302000-00008. PMID: 12589235

Prognosis

AlKhater SA
BMC Neurol 2016 Apr 26;16:54. doi: 10.1186/s12883-016-0578-3. PMID: 27113444Free PMC Article
Grobost V, Rigal E, Pavier Y, Vidal M, Mrozek N, Beytout J, Laurichesse H, Lesens O
Diagn Microbiol Infect Dis 2014 May;79(1):90-2. Epub 2014 Jan 24 doi: 10.1016/j.diagmicrobio.2014.01.013. PMID: 24629578
Erbagci Z
Pediatr Dermatol 2008 Jan-Feb;25(1):28-33. doi: 10.1111/j.1525-1470.2007.00577.x. PMID: 18304149
Jacobs DH, Macher AM, Handler R, Bennett JE, Collen MJ, Gallin JI
Gastroenterology 1984 Jul;87(1):201-3. PMID: 6373479

Clinical prediction guides

AlKhater SA
BMC Neurol 2016 Apr 26;16:54. doi: 10.1186/s12883-016-0578-3. PMID: 27113444Free PMC Article
Beitzke M, Enzinger C, Windpassinger C, Pfeifer D, Fazekas F, Woellner C, Grimbacher B, Kroisel PM
J Neurol Sci 2011 Oct 15;309(1-2):12-5. Epub 2011 Aug 19 doi: 10.1016/j.jns.2011.07.045. PMID: 21855090
Geha RS, Reinherz E, Leung D, McKee KT Jr, Schlossman S, Rosen FS
J Clin Invest 1981 Sep;68(3):783-91. doi: 10.1172/jci110315. PMID: 6456275Free PMC Article
Verbrugh HA, van Dijk WC, Hendrickx GF, van der Stadt D, Stoop JW, Peterson PK, Verhoef J
Scand J Infect Dis 1980;12(2):111-6. doi: 10.3109/inf.1980.12.issue-2.07. PMID: 7375822
Verhaegen H, De Crée J, De Cock W, Brugmans J
Postgrad Med J 1976 Aug;52(610):511-4. doi: 10.1136/pgmj.52.610.511. PMID: 981093Free PMC Article

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