Last reviewed: November 2017
Last updated: May  2017

Summary

Definition

History and exam

Key diagnostic factors

  • at-risk demographic
  • positive FHx
  • recurrent infections
  • chronic diarrhea
  • failure to thrive
  • refractory thrush
  • absent lymphoid tissue

Other diagnostic factors

  • rash
  • oral or genital ulcers
  • microcephaly
  • skeletal abnormalities
  • blindness
  • dystonia

Risk factors

  • FHx of SCID
  • FHx of infant death
  • Athabascan-speaking Native Americans, Amish, or Mennonite
  • Consanguinity

Diagnostic investigations

1st investigations to order

  • CBC
  • flow cytometry
  • CXR
  • nephelometry (quantitative immunoglobulins)
Full details

Investigations to consider

  • T-cell proliferation studies
  • enzyme testing
  • serum uric acid
  • MRI chest
  • chest ultrasound
  • genetic testing
  • radiation sensitivity of fibroblast cultures
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Donald N. Pritzker Professor and Chair of Pediatrics

Physician-in-Chief

The University of Chicago Medicine Comer Children’s Hospital

Director

Hematopoietic Stem Cell Transplantation

Department of Pediatrics

University of Chicago

Chicago

IL

Disclosures

JMC declares that he has no competing interests.

Assistant Professor of Pediatrics

Section of Pediatric Hematology/Oncology/Stem Cell Transplantation

Associate Director for Research, Hematopoietic Stem Cell Transplantation

Department of Pediatrics

University of Chicago

Chicago

IL

Disclosures

JLL is an author of a reference cited in this monograph.

Dr John M. Cunningham and Dr James L. LaBelle would like to gratefully acknowledge Dr John Routes, Dr James Verbsky, Dr Nicole Chase, and Dr Ebrahim Shakir, the previous contributors to this monograph. JR, JV, and NC are authors of a number of references cited in this monograph. ES declares that he has no competing interests.

Peer reviewers VIEW ALL

Professor of Pediatrics

University of Pennsylvania

Chief

Division of Allergy and Immunology

Children's Hospital of Philadelphia

Philadelphia

PA

Disclosures

KS declares that she has no competing interests.

Professor of Medicine

Director

Adult Immunodeficiency Program

University of Colorado Denver

Aurora

CO

Disclosures

CK is an author of a reference cited in this monograph. CK has received speaker fees from Cention, Aventis Behring, and Bristol Myers Squibb. CK has received honorarium for speaking at the Aspen Allergy Conference, for the Colorado Allergy Society. CK ran the research program for a biotechnology company with an approximate budget of $3.5 million.

Senior Lecturer

Institute of Child Health

Consultant in Paediatric Immunology & Bone Marrow Transplantation

Great Ormond Street Hospital

London

UK

Disclosures

WQ declares that he has no competing interests.

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