Severe Combined Immunodeficiency (SCID) Questions & Answers

Updated: Aug 11, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
  • Print
Questions & Answers

Overview

What is severe combined immunodeficiency (SCID)?

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

What are the pathophysiologic pathways of severe combined immunodeficiency (SCID)?

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

What is the role of RAG1 and RAG2 proteins in the pathophysiology of severe combined immunodeficiency (SCID)?

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

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

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

What is the mortality and morbidity associated with severe combined immunodeficiency (SCID)?

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

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

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

Presentation

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

Which clinical history findings are characteristic of X-linked severe combined immunodeficiency (XSCID)?

Which clinical history findings are characteristic of X-linked immunodeficiency with hyper IgM syndrome (XHM)?

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

Which clinical history findings are characteristic of JAK3 deficiency?

Which clinical history findings are characteristic of RAG1 and RAG2 deficiency?

Which clinical history findings are characteristic of cartilage-hair hypoplasia (CHH)?

Which clinical history findings are characteristic of reticular dysgenesis?

Which clinical history findings are characteristic of Wiskott-Aldrich syndrome (WAS)?

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

What causes severe combined immunodeficiency (SCID)?

DDX

How is severe combined immunodeficiency (SCID) differentiated from pure B-cell disorders?

What are the differential diagnoses for Severe Combined Immunodeficiency (SCID)?

Workup

How is severe combined immunodeficiency (SCID) screened in newborns?

Which lab findings are characteristic of ADA deficiency?

Which lab findings are characteristic of RAG1 and RAG2 deficiency?

How is severe combined immunodeficiency (SCID) diagnosed?

Which lab findings are characteristic of X-linked immunodeficiency with hyper IgM syndrome (XHM)?

Which lab findings are characteristic of ADA deficiency?

Which lab findings are characteristic of RAG1 and RAG2 deficiency?

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

How is severe combined immunodeficiency (SCID) diagnosed prenatally?

How is ADA deficiency diagnosed?

How is ataxia-telangiectasia (AT) diagnosed?

Which procedures are performed in the workup of severe combined immunodeficiency (SCID)?

Treatment

How is severe combined immunodeficiency (SCID) treated?

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

Which specialist consultations are beneficial to patients with 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)?

Follow-up

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

How is IVIG therapy administered for the treatment of severe combined immunodeficiency (SCID)?

When is patient transfer indicated for the treatment of severe combined immunodeficiency (SCID)?

How are infections prevented in severe combined immunodeficiency (SCID)?

What are the possible complications of IVIG therapy for severe combined immunodeficiency (SCID)?

What are the possible complications 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)?

Medications

Which medications in the drug class Metabolic Enzymes are used in the treatment of Severe Combined Immunodeficiency (SCID)?

Which medications in the drug class Blood Products/Immunoglobulins are used in the treatment of Severe Combined Immunodeficiency (SCID)?