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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

X-linked severe combined immunodeficiency

小儿内科

Common symptoms

粒细胞减少、恶病质、腹泻、胸腺缺如、败血症、免疫缺陷、消化不良、胃肠道症状

The pathology of disease

X-linked severe combined immunodeficiency (X-SCID) is common gamma chain defect; boys; profound T/B cell defect; recurrent severe infections; failure to thrive; bone marrow transplant/gene therapy.

Symptoms

Failure to thrive; recurrent severe infections; thrush; diarrhea; pneumonia; boys; no T cells; live vaccine risk

Causes

IL2RG common gamma chain; X-linked; SCID.

Treatment

Bone marrow transplant; gene therapy; IVIG; PCP prophylaxis; avoid live vaccines; newborn screening; immunology

Dept

Immunology / pediatrics / hematology.

Warm reminder: Health education reference only; seek care at regular hospital.