By Alessandro Plebani, Vassilios Lougaris
This e-book offers an up to date assessment of agammaglobulinemia, an extraordinary type of basic immunodeficiency that's thought of the prototype of the congenital humoral defects, and that is characterised through the absence of peripheral B cells and extremely low serum immunoglobulin degrees. The ebook opens through discussing the hugely orchestrated early B cellphone improvement within the bone marrow and the genes concerned in response to either human and animal versions. The pathogenesis and scientific presentation of X-linked agammaglobulinemia, attributable to mutations within the BTK (Bruton’s tyrosine kinase) gene, are then provided intimately, via descriptions of the medical manifestations and molecular foundation of the fewer widespread autosomal recessive and autosomal dominant types of agammaglobulinemia. sufferers’ administration by way of respiration issues, gammaglobulin alternative treatment and the capability price of novel experimental healing recommendations are mentioned. The book’s remaining chapters supply a entire and up-to-date description of mutations within the BTK gene, and the expression and serve as of BTK in cells except B cells.
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Additional resources for Agammaglobulinemia
Immunological workup showed agammaglobulinemia in the absence of peripheral B cells . During follow-up and into her adolescent years, the patient developed erythema nodosum, arthritis, Campylobacter bacteremia, and inflammatory bowel disease. No metabolic alteration was reported. 4 Diagnosis The presentation of ARA is similar to that of XLA: low to undetectable immunoglobulin serum levels in the almost complete absence of peripheral B cells, as defined by CD19 and CD20 expression (<2 %). Male patients, once BTK deficiency is excluded, and affected female patients should undertake sequencing analysis for mu heavy chain, Igα, Igβ, λ5, BLNK, and p85α for a definite diagnosis.
Bruton OC (1952) Agammaglobulinemia. Pediatrics 9:722–728 2. Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72:279–280 3. Vetrie D, Vorechovski I, Sideras P, Holland J, Davies A, Flinter F, Hammarstrom L, Kinnon C, Levinsky R, Bobrow M (1993) The gene involved in X-linked agammaglobulinemia is a member of the src family of protein-tyrosine kinases.
Clin Immunol 104:221–230 7. Vihinen M, Mattsson PT, Smith CI (1997) BTK, the tyrosine kinase affected in X-linked agammaglobulinemia. Front Biosci 2:d27–d42, Review 32 A. Plebani and V. Lougaris 8. Clark MR, Cooper AB, Wang LD, Aifantis I (2005) The pre-B cell receptor in B cell development: recent advances, persistent questions and conserved mechanisms. Curr Top Microbiol Immunol 290:87–103, Review 9. Rawlings DJ, Safran DC, Tsukada S et al (1993) Mutation of unique region of Bruton’s tyrosine kinase in immunodeficient XID mice.