Agammaglobulinemia [10 genes]

Agammaglobulinemia refers to a small group of primary antibody deficiencies characterized by a severe reduction of all immunoglobulin classes due to the absence of peripheral B cells. There are at least 8 forms of agammaglobulinemia depending on which gene is defective. However, the common underlying pathological mechanism is a maturation failure of B lymphocyte precursors into differentiated B lymphocytes and, ultimately, plasma cells. Hence, immunoglobulins cannot be produced due to the lack of circulating mature B cells. X-linked agammaglobulinemia (XLA), caused by BTK mutations, explains most of the cases.

  • 1/1,000,000
  • 1/100,000 – 1/200,000 (ALX)

  • Differential diagnosis: CVID, HIGM, IgA deficiency, SCID
  • Genetic counseling
  • Ig replacement (IVIG)
  • Antibiotic prophylaxis
  • Avoid live vaccines

Identifying a genetic defect responsible for the disease would allow a precise molecular diagnosis to be issued and make it possible to provide genetic counseling to the patient and their family members. In some cases, detecting a genetic variant can help explore specific treatment options.

  • Bacterial infections
  • Agammaglobulinemia
  • Onset: neonatal, infancy, childhood

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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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Agammaglobulinemia

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008257

Agammaglobulinemia: View panel
  • BLNK
  • BTK
  • CD79A
  • CD79B
  • IGHM
  • IGKC
  • IGLL1
  • LRRC8A
  • PIK3R1
  • TCF3

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. IDF – Immune Deficiency Foundation. Agammaglobulinemia: X-Linked and Autosomal Recessive. https://primaryimmune.org/about-primaryimmunodeficiencies/specific-disease-types/agammaglobulinemia-x-linked-autosomal-recessive. Accessed May 22, 2018.
  2. López-Herrera G, Vargas-Hernández A, González-Serrano ME, et al. Bruton’s tyrosine kinase-an integral protein of B cell development that also has an essential role in the innate immune system. J Leukoc Biol. 2014;95(2):243-250. doi:10.1189/jlb.0513307
  3. NORD (National Organization for Rare Disorders). Agammaglobulinemia. https://rarediseases.org/rare-diseases/agammaglobulinemia/. Accessed May 22, 2018
  4. Smith CE, Berglöf A. X-Linked Agammaglobulinemia.; 2016. http://www.ncbi.nlm.nih.gov/pubmed/20301626.
  5. Suri D, Rawat A, Singh S. X-linked Agammaglobulinemia. Indian J Pediatr. 2016;83(4):331-337. doi:10.1007/s12098-015-2024-8