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Severe combined immunodeficiency

Information from the Medical Directory health library.

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This information supports, and does not replace, advice from your healthcare professional.

Overview

Severe combined immunodeficiency (SCID) is a rare genetic disorder characterized by a severely weakened immune system, making affected individuals extremely vulnerable to infections.

Symptoms

Frequent and severe infections Failure to thrive in infants Chronic diarrhea Persistent mouth or skin infections Delayed growth and development

Causes

Genetic mutations affecting immune system development Inherited in an autosomal recessive or X-linked pattern

Diagnosis

Blood tests for immune cell counts and function Genetic testing Newborn screening in some countries

Treatment

Bone marrow or stem cell transplantation Immunoglobulin replacement therapy Preventive antibiotics and antifungals Isolation from infectious exposures

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