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Agammaglobulinemia, X-linked

X-linked recessive agammaglobulinemia is the most common form (15%) of agammaglobulinemia. This immunodeficiency syndrome is caused by mutations of the BTK gene, a key regulator of B cell development.

Systematic

Immunoglobulin disorders
Agammaglobulinemia, X-linked
BTK
Hyper-IgM syndrome

References:

1.

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49.

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50.

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51.

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52.

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53.

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54.

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55.

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56.

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57.

OMIM.ORG article

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