Download Case studies in immunology : a clinical companion by Raif Geha, Luigi Notarangelo PDF

By Raif Geha, Luigi Notarangelo

Учебник по иммунологии.
One of crucial capabilities of the adaptive immune approach is the construction of antibodies. it's anticipated individual could make a couple of million varied particular antibodies. This striking feat is complete via a fancy genetic application conducted by way of B lymphocytes and their precursors within the bone marrow.

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If either of the RAG genes is knocked out by homologous recombination in mice, the development of B cells and T cells is completely abolished and the mice have severe combined immunodeficiency. Mutations in RAGl and RAG2 Topics bearing on this case: V(D)J recombination RAG enzymes Severe combined immunodeficiency 40 Case 7: Omenn Syndrome Fig. 1 Rearrangement of the T-cell receptor genes. The top and bottom rows of the figure show the germline arrangement of the variable M. diversity (D), joining (J), and constant (C) gene segments at the T-cell receptor a and � loci, respectively.

Although she had been immunized several times with pneumococcal vaccines, she had been unable to respond, as shown by her lack of antibodies against Case 4: Common Vari able I mmunodefic iency all pneumococcal serotypes present in the vaccine. Numbers of B cells and T cells were normal. No antinuclear autoantibodies or rheumatoid factor (an autoantibody against lgG) were detected, but Mrs Johnson had high levels of antithyroid antibodies. Mrs Johnson's twin sister and her mother were both dead.

I] Like Mrs Johnson, most CVID patients with TACI mutations are heterozygous for the mutation. These patients express both mutant and normal TACI molecules on the surface of their B cells. Why would these heterozygous patients have the disease? [gJ Mrs Johnson and a maternal cousin had the same TACI mutation. However, Mrs Johnson had full-blown CVID, whereas her cousin only had selective lgA deficiency. How can two individuals with the same TACI mutation present with different disorders (CVID versus lgA deficiency)?

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