By Alessandro Plebani, Vassilios Lougaris
This ebook presents an up to date evaluate of agammaglobulinemia, a unprecedented type of basic immunodeficiency that's thought of the prototype of the congenital humoral defects, and that's characterised by way of the absence of peripheral B cells and extremely low serum immunoglobulin degrees. The publication opens by means of discussing the hugely orchestrated early B telephone improvement within the bone marrow and the genes concerned in line with either human and animal types. The pathogenesis and scientific presentation of X-linked agammaglobulinemia, because of 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 when it comes to breathing issues, gammaglobulin substitute treatment and the capability price of novel experimental healing ideas are mentioned. The book’s ultimate chapters supply a finished 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
Lougaris Autosomal Dominant Agammaglobulinemia (E47/TCF3) Until recently, X-linked (the more frequent) or autosomal recessive forms of agammaglobulinemia were known. However, autosomal dominant E47/TCF3 deficiency was recently described in four patients with agammaglobulinemia and reduced peripheral B cells that expressed CD19 but lacked BCR expression on the cell surface . The broadly expressed transcription factor E47 resulted mutated in the four patients with TCF3 deficiency. The role of E47 in B-cell development had been previously highlighted in the animal model .
Lagresle-Peyrou C, Millili M, Luce S, Boned A, Sadek H, Rouiller J, Frange P, Cros G, Cavazzana M, André-Schmutz I, Schiff C (2014) The BLNK adaptor protein has a nonredundant role in human B-cell differentiation. J Allergy Clin Immunol 134(1):145–154 61. NaserEddin A, Shamriz O, Keller B, Alzyoud RM, Unger S, Fisch P, Prus E, Berkun Y, Averbuch D, Shaag A, Wahadneh AM, Conley ME, Warnatz K, Elpeleg O, Stepensky P (2015) Enteroviral infection in a patient with BLNK adaptor protein deficiency. J Clin Immunol 35(4):356–360 62.
Erythemato-squamous lesions of the lower right art during a systemic infection sustained by Helicobacter-like species 24 A. Plebani and V. Lougaris infections in XLA has been associated to high-dose treatment (and not the usual dosage applied in replacement treatment), although the limited number of patients reported does not allow definitive conclusions. The mechanism proposed is based on the anti-inflammatory effect of high-dose immunoglobulins, although further data are needed to validate the effective mechanism.