Common variable immunodeficiency (CVID) [35 genes]

Common variable immunodeficiency (CVID) is the most common symptomatic and frequently diagnosed primary immunodeficiency in adults. CVID is an umbrella term that encompasses various genetic disorders that share a common feature: hypogammaglobulinemia with normal or low B cell numbers. The pathophysiology of CVID is caused by a defective humoral and cell-mediated response due to B cell differentiation failure, no immunoglobulin production, defective T cell signalling, or an altered B cell-T cell interaction.

  • Bacterial infections (respiratory)
  • Hypogammaglobulinemia
  • Autoimmunity (~25% cases)
  • Lymphoproliferation and cancer risk
  • Onset: infancy (rare); adulthood (20-40 years)

  • 1:10,000 – 1:50,000
  • 1:143-1:18,500 IgA deficiency

  • Differential diagnosis: agammaglobulinemia, SCID, cystic fibrosis, primary ciliary dyskinesia
  • Genetic counseling
  • Ig replacement (IVIG)
  • Antibiotic prophylaxis
  • Corticosteroids

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1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

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5. Result: the report

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Common variable immunodeficiency (CVID)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110261

Common variable immunodeficiency (CVID): View panel
  • ATP6AP1
  • BACH2
  • CARD11
  • CD19
  • CD81
  • CLEC16A
  • CR2
  • CTLA4
  • CXCR4
  • DOCK8
  • ICOS
  • ICOSLG
  • IKZF1
  • IL21
  • IRF2BP2
  • ITPKB
  • KMT2A
  • LRBA
  • MOGS
  • MS4A1
  • NFE2L2
  • NFKB1
  • NFKB2
  • PIK3CD
  • PIK3R1
  • PLCG2
  • PTEN
  • RNF168
  • SEC61A1
  • SH3KBP1
  • TNFRSF13B
  • TNFRSF13C
  • TNFSF12
  • TRNT1
  • TTC37

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. Ameratunga R, Woon S-T, Gillis D, Koopmans W, Steele R. New diagnostic criteria for Common Variable Immune Deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous Immunoglobulin. Clin Exp Immunol. July 2013:n/a-n/a. doi:10.1111/cei.12178
  2. Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood. 2012;119(7):1650-1657. doi:10.1182/blood-2011-09-377945
  3. Resnick ES, Cunningham-Rundles C. The many faces of the clinical picture of common variable immune deficiency. Curr Opin Allergy Clin Immunol. 2012;12(6):595-601. doi:10.1097/ACI.0b013e32835914b9
  4. Sathkumara HD, De Silva NR, Handunnetti S, De Silva AD. Genetics of common variable immunodeficiency: role of transmembrane activator and calcium modulator and cyclophilin ligand interactor. Int J Immunogenet. 2015;42(4):239-253. doi:10.1111/iji.12217
  5. Tam JS, Routes JM. Common variable immunodeficiency. Am J Rhinol Allergy. 2013;27(4):260-265. doi:10.2500/ajra.2013.27.3899