Which of the following immunoglobulin is absent in Ataxia telangiectasia:
**Core Concept**
Ataxia telangiectasia is a rare genetic disorder characterized by progressive cerebellar ataxia, immunodeficiency, and cancer susceptibility. The immunodeficiency in ataxia telangiectasia is primarily due to a defect in the DNA repair mechanism, which affects the function of T and B lymphocytes.
**Why the Correct Answer is Right**
Patients with ataxia telangiectasia often exhibit impaired antibody production, particularly IgA, which is crucial for mucosal immunity. The absence of IgA in these patients is due to the defective activation of the B cells, which are responsible for producing IgA antibodies. This is a result of the impaired function of the enzyme DNA-dependent protein kinase (DNA-PK), which is essential for the repair of DNA double-strand breaks. The defective DNA repair mechanism in ataxia telangiectasia leads to the accumulation of mutations in the immunoglobulin genes, specifically the IgA genes, resulting in their absence.
**Why Each Wrong Option is Incorrect**
**Option A:** IgG is not absent in ataxia telangiectasia, as patients with this disorder can still produce some IgG antibodies, although their levels may be decreased.
**Option B:** IgM is not typically absent in ataxia telangiectasia, and patients may even exhibit elevated levels of IgM antibodies due to the impaired activation of B cells.
**Option D:** IgD is not specifically affected in ataxia telangiectasia, and patients with this disorder can still produce IgD antibodies, albeit in reduced amounts.
**Clinical Pearl / High-Yield Fact**
Ataxia telangiectasia is a rare genetic disorder with a strong predisposition to cancer, particularly lymphomas and leukemias. Patients with this disorder often exhibit a characteristic telangiectasia of the conjunctivae and a distinctive cerebellar degeneration.
**✓ Correct Answer: C. IgA**