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Genetic deficiencies in all of the following would impair the development of a fully functional T-cell repertoire except

a. RAG-1 or RAG-2
b. Notch1
c. Pax-5
d. IL-7 receptor (CD127)
e. TAP-1 or TAP-2.

1 Answer

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Final answer:

Pax-5 deficiency would not impair T-cell development, as it is crucial for B-cell development. Agammaglobulinemia affects B cells whereas SCID affects both B and T cells. Without T cells, B cells cannot effectively produce antibodies.

Step-by-step explanation:

The genetic deficiency that would not impair the development of a fully functional T-cell repertoire is Pax-5. Pax-5 is essential for B-cell development, not T-cell development. The other options listed play crucial roles in the formation of T cells: RAG-1 or RAG-2 are required for the recombination of T-cell receptor genes; Notch1 is involved in T-cell lineage commitment; the IL-7 receptor is critical for T-cell survival and proliferation; and TAP-1 or TAP-2 are important for antigen processing and presentation in association with MHC class I, which is essential for T cell selection.

Moreover, agammaglobulinemia is an example of a genetic disease that results in an almost non-existent adaptive immunity due to a lack of B cells (specifically a mutation in the BTK gene), while severe combined immunodeficiency disease (SCID) affects both B and T cells.

If a patient lacks functioning T cells due to a genetic disorder, their B cells would not effectively produce antibodies in response to infection because T-cell help is crucial for most B-cell antibody responses.

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