Pediatric Severe Combined Immunodeficiency Questions & Answers

Updated: May 07, 2020
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD  more...
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Questions & Answers

Overview

What is severe combined immunodeficiency (SCID)?

What is the role of genetics in the pathophysiology of severe combined immunodeficiency (SCID)?

What is the pathogenesis of severe combined immunodeficiency (SCID)?

Which genetic mutations cause severe combined immunodeficiency (SCID)?

Which infectious agents cause severe combined immunodeficiency (SCID)?

What are the exacerbating factors in severe combined immunodeficiency (SCID)?

What is the US prevalence of severe combined immunodeficiency (SCID)?

What is the global prevalence of severe combined immunodeficiency (SCID)?

At what ages does severe combined immunodeficiency (SCID) typically first present?

What are the sexual predilections of severe combined immunodeficiency (SCID)?

What are the racial predilections of severe combined immunodeficiency (SCID)?

What is the prognosis of severe combined immunodeficiency (SCID)?

What is included in patient education about severe combined immunodeficiency (SCID)?

Presentation

Which clinical history findings are characteristic of severe combined immunodeficiency (SCID)?

Which physical findings are characteristic of severe combined immunodeficiency (SCID)?

What are the possible complications of severe combined immunodeficiency (SCID) and how can they be prevented?

DDX

Which conditions are included in the differential diagnoses of severe combined immunodeficiency (SCID)?

What are the differential diagnoses for Pediatric Severe Combined Immunodeficiency?

Workup

How is severe combined immunodeficiency (SCID) diagnosed?

What is the role of lab tests in the workup of severe combined immunodeficiency (SCID)?

What is the role of flow cytometry in the workup of severe combined immunodeficiency (SCID)?

What is the role of chest radiography in the workup of severe combined immunodeficiency (SCID)?

How is severe combined immunodeficiency (SCID) diagnosed prenatally?

What is the role of mutational analysis in the workup of severe combined immunodeficiency (SCID)?

Which newborn screening test can be used to identify severe combined immunodeficiency (SCID)?

What is the role of bronchoscopy in the workup of severe combined immunodeficiency (SCID)?

Which histologic findings are characteristic of severe combined immunodeficiency (SCID)?

Treatment

How is severe combined immunodeficiency (SCID) treated?

What is the role of pharmacologic prophylaxis in the treatment of severe combined immunodeficiency (SCID)?

What is the role of IVIg replacement therapy in the treatment of severe combined immunodeficiency (SCID)?

What is the role of bone marrow transplantation in the treatment of severe combined immunodeficiency (SCID)?

What is the role of enzyme replacement in the treatment of severe combined immunodeficiency (SCID)?

What is the role of interleukin replacement in the treatment of severe combined immunodeficiency (SCID)?

What is the role of cyclosporine and interferon in the treatment of severe combined immunodeficiency (SCID)?

What is the role of gene therapy in the treatment of severe combined immunodeficiency (SCID)?

Which dietary modifications are used in the treatment of severe combined immunodeficiency (SCID)?

Which activity modifications are used in the treatment of severe combined immunodeficiency (SCID)?

What is the role of newborn screening in the diagnosis of severe combined immunodeficiency (SCID)?

How is severe combined immunodeficiency (SCID) prevented?

Which specialist consultations are beneficial to patients with severe combined immunodeficiency (SCID)?

What is included in the long-term monitoring of severe combined immunodeficiency (SCID)?

Medications

What is the role of medications in the treatment of severe combined immunodeficiency (SCID)?

Which medications in the drug class Antifungal Agents are used in the treatment of Pediatric Severe Combined Immunodeficiency?

Which medications in the drug class Antivirals, Other are used in the treatment of Pediatric Severe Combined Immunodeficiency?

Which medications in the drug class Sulfonamides are used in the treatment of Pediatric Severe Combined Immunodeficiency?

Which medications in the drug class Enzymes, Metabolic are used in the treatment of Pediatric Severe Combined Immunodeficiency?

Which medications in the drug class Intravenous immunoglobulin are used in the treatment of Pediatric Severe Combined Immunodeficiency?