Purine Nucleoside Phosphorylase Deficiency Questions & Answers

Updated: Aug 07, 2019
  • Author: Alan P Knutsen, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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Questions & Answers

Overview

What is purine nucleoside phosphorylase (PNP) deficiency?

What is the role of purine nucleoside phosphorylase (PNP) deficiency in the etiology of severe combined immunodeficiency (SCID)?

What is the pathophysiology of purine nucleoside phosphorylase (PNP) deficiency?

What is the prevalence of purine nucleoside phosphorylase (PNP) deficiency?

What is the mortality and morbidity associated with purine nucleoside phosphorylase (PNP) deficiency?

What are the sexual predilections of purine nucleoside phosphorylase (PNP) deficiency?

At what age does purine nucleoside phosphorylase (PNP) deficiency typically present?

What is the prognosis of purine nucleoside phosphorylase (PNP) deficiency?

What is included in patient education about purine nucleoside phosphorylase (PNP) deficiency?

Presentation

Which clinical history findings are characteristic of purine nucleoside phosphorylase (PNP) deficiency?

Which clinical history findings are characteristic of adenosine deaminase (ADA) deficiency?

Which physical findings are characteristic of purine nucleoside phosphorylase (PNP) deficiency?

What causes purine nucleoside phosphorylase (PNP) deficiency?

DDX

Which conditions are included in the differential diagnoses of purine nucleoside phosphorylase (PNP) deficiency?

How is purine nucleoside phosphorylase (PNP) deficiency differentiated from DiGeorge anomaly (DGA)?

What are the differential diagnoses for Purine Nucleoside Phosphorylase Deficiency?

Workup

What is the role of newborn screening in the diagnosis of purine nucleoside phosphorylase (PNP) deficiency?

How is a diagnosis of purine nucleoside phosphorylase (PNP) deficiency confirmed?

What is the role of lab tests in the workup of adenosine deaminase (ADA) deficiency?

What is the role of radiography in the workup of purine nucleoside phosphorylase (PNP) deficiency?

What is the role of genetic studies in the workup of purine nucleoside phosphorylase (PNP) deficiency?

Which histologic findings are characteristic of adenosine deaminase (ADA) deficiency?

Which histologic findings are characteristic of purine nucleoside phosphorylase (PNP) deficiency?

Treatment

What is the role of hematopoietic stem cell transplantation (HSCT) in the treatment of purine nucleoside phosphorylase (PNP) deficiency?

What is included in pretransplantation conditioning for HSCT to treat purine nucleoside phosphorylase (PNP) deficiency?

What is the role of enzyme replacement therapy in the treatment of purine nucleoside phosphorylase (PNP) deficiency?

What is the role of gene therapy in the treatment of adenosine deaminase (ADA) deficiency?

What is included in supportive care for purine nucleoside phosphorylase (PNP) deficiency?

Which specialist consultations are beneficial to patients with purine nucleoside phosphorylase (PNP) deficiency?

Which activity modifications are used in the treatment of purine nucleoside phosphorylase (PNP) deficiency?

Medications

What is the role of bovine-derived ADA replacement enzyme (Adagen) in the treatment of adenosine deaminase (ADA) deficiency?

What is the role of IVIG in the treatment of purine nucleoside phosphorylase (PNP) deficiency?

What are the possible adverse effects of IVIG for the treatment of purine nucleoside phosphorylase (PNP) deficiency?

What are the differences between IVIG brands for the treatment of purine nucleoside phosphorylase (PNP) deficiency?

Which medications in the drug class Enzymes, Metabolic are used in the treatment of Purine Nucleoside Phosphorylase Deficiency?

Which medications in the drug class Immunosuppressive agents are used in the treatment of Purine Nucleoside Phosphorylase Deficiency?

Which medications in the drug class Bone marrow ablative and immunosuppressive agents are used in the treatment of Purine Nucleoside Phosphorylase Deficiency?

Which medications in the drug class Antimicrobials, prophylactic are used in the treatment of Purine Nucleoside Phosphorylase Deficiency?

Follow-up

What is included in the long-term outpatient treatment of purine nucleoside phosphorylase (PNP) deficiency?

When is inpatient care indicated for the treatment of purine nucleoside phosphorylase (PNP) deficiency?

What is the prognosis of purine nucleoside phosphorylase (PNP) deficiency?

When is genetic counseling indicated for purine nucleoside phosphorylase (PNP) deficiency?