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• W2149344568 abstract "Immunoglobulin class switch recombination deficiencies (Ig CSR deficiencies) or Hyper IgM syndromes (HIGM) are a group of primary immunodeficiency diseases, characterized by defective CD40 signaling of B cells, resulting in reduced CSR and somatic hypermutation. The affected patients are characterized by low serum levels of IgG and IgA, and normal or elevated levels of IgM, which lead to an increased susceptibility to infections. We describe a 3 year-old boy with frequent bacterial infections of the skin and respiratory tract, mucosal ulcers, and diarrhea. He experienced onychomadesis of both fingernails and toenails during a recent bacterial infection. Quantitative immunoglobulin measurements revealed high levels of serum IgM and very low levels of IgG, IgA, and IgE. Clinical and immunologic studies supported the diagnosis of HIGM. Exclusion of CD40L, CD40, AID and UNG genes by molecular analysis in this patient may suggest a new form of selective CSR deficiency." @default.
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• W2149344568 date "2008-03-01" @default.
• W2149344568 modified "2023-09-22" @default.
• W2149344568 title "Onychomadesis in a patient with immunoglobulin class switch recombination deficiency." @default.
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