i.Mune™ NEO* (in development)


i.Mune™ NEO* is a molecular diagnostic test for early detection of inborn errors of immunity (IEI) in newborns.

i.Mune™ NEO* is suitable for epigenetic quantification of:

  • T lymphocytes (CD3+)
  • Helper T lymphocytes (CD3+CD4+)
  • Cytotoxic T lymphocytes (CD3+CD8+)
  • B lymphocytes (CD19+) (BLC)
  • Natural killer lymphocytes (CD16+CD56dim) (Natural killer cells; NKC)

in dried blood spot (DBS) samples from newborns


Epigenetic immune cell quantification allows early detection of inborn errors of immunity in newborns.

Identifizierung von Neugeborenen mit Severe Combined Immunodeficiency (SCID) und X-Linked Agammaglobulinämie (XLA) durch epigenetische Quantifizierung von T-, B- und NK-Zellen in Trockenblutproben (Baron et al., Sci Transl Med. 2018)
Identifizierung von Neugeborenen mit Severe Combined Immunodeficiency (SCID) und X-Linked Agammaglobulinämie (XLA) durch epigenetische Quantifizierung von T-, B- und NK-Zellen in Trockenblutproben (Baron et al., Sci Transl Med. 2018)
Vergleich der epigenetischen Quantifizierung mit dem kombinierten TREC/KREC Screening Test zur Identifizierung von Neugeborenen mit SCID bzw. XLA (Baron et al., Sci Tranl Med, 2018)
Vergleich der epigenetischen Quantifizierung mit dem kombinierten TREC/KREC Screening Test zur Identifizierung von Neugeborenen mit SCID bzw. XLA (Baron et al., Sci Tranl Med, 2018)

A cohort of 250 apparently healthy newborns and 24 confirmed SCID and XLA cases was analyzed using epigenetic immune cell quantification of T-, B- and NK Zellen in dried blood spot samples1)

23 out of 24 confirmed SCID or XLA cases were correctly identified using the epigenetic immune cell quantification method.

 

Using combined TREC/KREC Analysis, 22 out of 24 cases were correctly identified1)

Epigenetic immune cell quantification identifies false-positive SCID screening cases (Blom et al., 2021)

 


Possible applications**:

  • Early detection of immune cell dysregulation in newborns
  • Confirmation of a conspicuous SCID screening result in newborns

*i.Mune NEO is for research use, only and has not been registered as an IVD product and has not been approved or cleared by a regulatory authority.

 

**The above clinical applications are currently tested in several studies

Literature

  1. Blom, M et al. Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency. J Clin Immunol (2021).
  2. Baron U et al., Epigenetic immune cell counting in human blood samples for immunodiagnostics. Sci Transl Med. 2018 Aug 1;10 (452)
  3. Barzaghi F et al., Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. J Autoimmun. 2012 Feb;38(1):49-58
  4. Cepika AM et al. Tregopathies: Monogenic diseases resulting in regulatory T-cell deficiency. J Allergy Clin Immunol. 2018 Dec;142(6):1679-1695
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