Recurrent pyogenic infections [6 genes]

Complement´s lectin pathway deficiency

Defects in the genes encoding the components of the complement’s lectin pathway predispose carriers to recurrent infections. Deficiency of MBL generally increases the risk of any type of infection but is mostly related to an increased frequency of pyogenic infections, including pneumococcal infection and sepsis, particularly in neonates/infants or in patients undergoing immunosuppressive treatment. In addition, primary deficiencies of C3 due to defects in cleavage products of C3 result in severe, recurrent pyogenic infections because of ineffective opsonization of pathogens.

  • Recurrent infections
  • Severe pyogenic infections
  • Onset: childhood, adulthood

  • Unknown
  • Few families described

  • Diagnosis and genetic counseling
  • Purified MBL (under development)
  • Vaccination
  • Prophylactic antibiotics

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Steps to follow
Steps to follow

How to order

1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

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4. Send the sample & the request

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5. Result: the report

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Recurrent pyogenic infections

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008269

Recurrent pyogenic infections: View panel
  • C3
  • CFB
  • FCN3
  • MASP1
  • MASP2
  • MBL3

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. IUIS Scientific Committee. Primary Immunodeficiency Diseases. Vol 118. (Rezaei N, Aghamohammadi A, Notarangelo LD, eds.). Berlin, Heidelberg: Springer Berlin Heidelberg; 2017. doi:10.1007/978-3-662-52909-6
  2. Mahmoudi M, Nilsson PH, Mollnes TE, Roos D, Sullivan KE. Complement Deficiencies. In: Primary Immunodeficiency Diseases. Berlin, Heidelberg: Springer Berlin Heidelberg; 2017:437-460. doi:10.1007/978-3-662-52909-6_8