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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Purine nucleoside phosphorylase deficiency in children

儿科综合

Common symptoms

震颤、粒细胞减少、共济失调、心包炎、血小板减少、反复感染

The pathology of disease

Purine nucleoside phosphorylase deficiency in children is AR T-cell immunodeficiency; recurrent infections; neurologic; delayed development; children; enzyme/transplant; immunology/metabolic.

Symptoms

Recurrent infections; neurologic; developmental delay; child; T-cell deficiency; PNP; AR

Causes

PNP mutation; AR; purine metabolism; child; immunodeficiency.

Treatment

BMT/transplant; enzyme replacement selected; IVIG; pediatric immunology/metabolic; no cure

Dept

Pediatric immunology / pediatrics / metabolic / pediatric hematology.

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

Family room

儿科综合Overview of the Western Medical Room