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Educational paper
- Source :
- European Journal of Pediatrics. 170:295-308
- Publication Year :
- 2011
- Publisher :
- Springer Science and Business Media LLC, 2011.
-
Abstract
- The syndromic primary immunodeficiencies are disorders in which not only the immune system but also other organ systems are affected. Other features most commonly involve the ectodermal, skeletal, nervous, and gastrointestinal systems. Key in identifying syndromic immunodeficiencies is the awareness that increased susceptibility to infections or immune dysregulation in a patient known to have other symptoms or special features may hint at an underlying genetic syndrome. Because the extraimmune clinical features can be highly variable, it is more difficult establishing the correct diagnosis. Nevertheless, correct diagnosis at an early age is important because of the possible treatment options. Therefore, diagnostic work-up is best performed in a center with extensive expertise in this field, having immunologists and clinical geneticists, as well as adequate support from a specialized laboratory at hand. This paper provides the general pediatrician with the main clinical features that are crucial for the recognition of these syndromes.
- Subjects :
- medicine.medical_specialty
Genetic syndromes
business.industry
Treatment options
Immune dysregulation
medicine.disease_cause
medicine.disease
Immunologic Deficiency Syndromes
22q11 Deletion Syndrome
Immunopathology
Pediatrics, Perinatology and Child Health
Immunology
medicine
Primary immunodeficiency
Intensive care medicine
business
Organ system
Subjects
Details
- ISSN :
- 14321076 and 03406199
- Volume :
- 170
- Database :
- OpenAIRE
- Journal :
- European Journal of Pediatrics
- Accession number :
- edsair.doi...........a16d40d58e62144ebfa28dca740bdcc9