4A01.02/D80.6 Specific antibody deficiency with normal immunoglobulin concentrations or normal number of B cells

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Aetiology

Specific antibody deficiency with normal immunoglobulin concentrations or normal number of B cells is an immunodeficiency disorder caused by a mutation in the gene responsible for the production of specific antibodies. This mutation prevents the body from producing the necessary antibodies to fight off infections.

Diagnosis

To diagnose Specific antibody deficiency with normal immunoglobulin concentrations or normal number of B cells, a doctor will typically order a complete blood count, a serum immunoglobulin test, and an Immune Function Profile.

Differential diagnosis

Differential diagnosis of Specific antibody deficiency with normal immunoglobulin concentrations or normal number of B cells includes other primary immunodeficiency disorders, such as common variable immunodeficiency and selective IgA deficiency.

Treatment

Treatment aims to reduce the risk of infections and improve the quality of life of the patient. This may include antibiotics, immunoglobulin replacement therapy, and vaccinations.

Prognosis

The prognosis for Specific antibody deficiency with normal immunoglobulin concentrations or normal number of B cells is generally good. With proper care and treatment, most patients can lead a healthy and normal life.

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