Summary
Definition
History and exam
Key diagnostic factors
- cyanosis
- signs of heart failure
- heart murmur
- characteristic facial features
- cleft lip and palate
- growth failure
- seizure or tetany
Other diagnostic factors
- presentation in infancy
- feeding difficulty
- speech delay
- nonverbal learning disorder
- frequent infections
- schizophrenia
- features of CHARGE syndrome
Diagnostic investigations
1st investigations to order
- serum calcium
- serum intact PTH
- T-cell count
- fluorescence in situ hybridization
- immune-specific titers (if previously immunized)
- CBC
- TSH
- chest x-ray
- ECG
- serum immunoglobulins
Investigations to consider
- lymphocyte mitogen and antigen proliferation
- karyotype
- echocardiogram
- renal ultrasound
- audiometry
- dental and palatal evaluations
- ophthalmology evaluation
Treatment algorithm
Contributors
Authors
Clinical Associate Professor
Stanford University
Stanford
CA
Disclosures
SAMG has provided testimony as an expert in a criminal case in which immune deficiency was a concern. SAMG is a co-author of a reference cited in this topic.
Assistant Professor
David Geffen School of Medicine at UCLA
Los Angeles
CA
Disclosures
MGL is a co-author of a reference cited in this topic.
Peer reviewers
Director
Centro de Genetica Humana
Facultad de Medicina
Clínica Alemana-Universidad del Desarrollo
Santiago
Chile
Disclosures
GMR is a co-author of a reference cited in this topic.
Associate Professor of Pediatrics
Division of Pulmonary, Allergy & Immunology, Cystic Fibrosis, and Sleep
Emory University
Atlanta
GA
Disclosures
LK is an investigator in clinical trials by Baxter Bioscience. These trials do not involve patients with 22q11DS. LK is an author of a number of references cited in this topic.
Consultant Immunologist
Department of Immunology
Great Ormond Street Hospital
London
UK
Disclosures
WI declares that she has no competing interests.
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