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Titlebook: Humoral Primary Immunodeficiencies; Mario Milco D‘Elios,Marta Rizzi Book 2019 Springer Nature Switzerland AG 2019 B-cell.Antibodies.Gammag

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Genetic CD21 Deficiency,e been reported. CD21 deficiency is caused by compound heterozygous or homozygous mutations in the . gene. The CD21-deficient patients may have a relatively mild clinical phenotype with recurrent bacterial infections and autoimmune-mediated myalgia or a more severe phenotype with recurrent upper and
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TACI Deficiency,cules which regulate B cell homeostasis, differentiation, and function. Heterozygous, compound heterozygous, or homozygous alterations in the TNFRSF13B gene are associated with various forms of antibody deficiency including IgA deficiency and CVID. These genetic alterations have a low penetrance and
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Class-Switch Recombination Defects,) from one type to the other (i.e., from IgM to IgG, IgA or IgE). This confers to the antibodies specific effector function and tissue distribution. Class-switch recombination deficiencies are a heterogeneous group of primary immunodeficiencies characterized by normal or increased levels of serum Ig
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Selective IgA Deficiency,estinal infections, autoimmunity, allergic conditions, and, in some cases, progression to the more severe antibody deficiency, common variable immunodeficiency (CVID). Genetics, intrinsic defects in lymphocytes, and impairment of the cytokine profile are all thought to contribute to IgAD pathogenesi
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