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)
Investigations to consider
- T-cell proliferation studies
- enzyme testing
- serum uric acid
- MRI chest
- chest ultrasound
- genetic testing
- radiation sensitivity of fibroblast cultures
Treatment algorithm
Contributors
AuthorsVIEW 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 reviewersVIEW 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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