Combined immunodeficiency syndromes [81 genes]

Combined immunodeficiency syndromes refer to a group of rare and congenital diseases characterized by a multisystemic disorder involving the immune system. In these disorders there is a compromised adaptive immune response (reduced T-cells and often B-cells dysfunction) and syndromic, autoimmune, or inflammatory features. Examples of syndromes included in this group are dyskeratosis congenita, hyper-IgE syndrome, Wiskott-Aldrich syndrome, and ataxia-telangiectasia, among others.

  • Recurrent infections
  • Autoimmunity
  • Inflammation
  • Multisystemic
  • Aplastic anemia
  • Onset: infancy, childhood, adulthood

  • 1 :10,000 – 1:1,000,000 (HIES)
  • 1:100,000 – 1:1,000,000 (DKC)
  • 1:100,000 – 1:1,000,000 (WAS)

  • Diagnosis and genetic counseling
  • Immunosuppressants
  • Hematopoietic stem cell transplantation (HSCT)

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Combined immunodeficiency syndromes

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110263

Combined immunodeficiency syndromes: View panel
  • ACD
  • ACP5
  • ARPC1B
  • ATM
  • BLM
  • CCBE1
  • CDC42
  • CDCA7
  • CHD7
  • CTC1
  • DCLRE1B
  • DKC1
  • DNMT3B
  • DOCK2
  • DOCK8
  • EPG5
  • ERCC6L2
  • EXTL3
  • FOXP3
  • GINS1
  • HELLS
  • HYOU1
  • IKBKG
  • IL21R
  • KDM6A
  • KMT2A
  • KMT2D
  • LIG1
  • MCM4
  • MTHFD1
  • MYSM1
  • NBN
  • NFE2L2
  • NFKBIA
  • NHP2
  • NOP10
  • NSMCE3
  • ORAI1
  • PARN
  • PAX1
  • PGM3
  • PHF11
  • PMS2
  • PNP
  • POLE
  • POLE2
  • PRPS1
  • RBCK1
  • RMRP
  • RNF168
  • RNF31
  • RNU4ATAC
  • RTEL1
  • SAMD9
  • SAMD9L
  • SEMA3E
  • SLC46A1
  • SMARCAL1
  • SP110
  • SPATA5
  • SPINK5
  • STAT3
  • STAT5B
  • STIM1
  • STK4
  • STN1
  • TBX1
  • TCN2
  • TERC
  • TERT
  • TINF2
  • TOP2B
  • TPP2
  • TTC7A
  • TYK2
  • USB1
  • WAS
  • WIPF1
  • WRAP53
  • ZBTB24
  • ZNF341

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. Bousfiha A, Jeddane L, Picard C, et al. The 2017 IUIS Phenotypic Classification for Inmunodeficiencias primarias. J Clin Immunol. 2018;38(1):129-143. doi:10.1007/s10875-017-0465-8
  2. Chopra, C., Davies, G., Taylor, M., Anderson, M., Bainbridge, S., Tighe, P., & McDermott, E. M. (2014). Immune deficiency in Ataxia-Telangiectasia: a longitudinal study of 44 patients. Clinical & Experimental Immunology, 176(2), 275–282. https://doi.org/10.1111/cei.12262
  3. Faulkner, W. R. (2010). Critical Reviews in Clinical Laboratory Sciences. Critical Reviews in Clinical Laboratory Sciences, 1(January 1970), 1–4. https://doi.org/10.3109/10408360903507283
  4. Lee, P. P., Lobato-Márquez, D., Pramanik, N., Sirianni, A., Daza-Cajigal, V., Rivers, E., … Thrasher, A. J. (2017). Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells. Nature Communications, 8(1), 1576. https://doi.org/10.1038/s41467-017-01676-0
  5. Ming, J. E., Stiehm, E. R., & Graham, J. M. (1999). Syndromes associated with immunodeficiency. Advances in Pediatrics, 46, 271–351. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10645468