Approach to primary immunodeficiency
| Autor: | Melanie M. Makhija, Ashley L Devonshire |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Pulmonary and Respiratory Medicine
Primary Immunodeficiency Diseases T-Lymphocytes T cell Adaptive Immunity Infections medicine.disease_cause 01 natural sciences 03 medical and health sciences Combined immunodeficiencies 0302 clinical medicine Immune system Lymphopenia medicine Humans Immunology and Allergy 0101 mathematics Severe combined immunodeficiency business.industry 010102 general mathematics Immunologic Deficiency Syndromes Infant Newborn General Medicine Immune dysregulation medicine.disease Acquired immune system Immunity Innate medicine.anatomical_structure 030228 respiratory system Immunology Primary immunodeficiency Severe Combined Immunodeficiency Complement membrane attack complex business |
| Zdroj: | Allergy and Asthma Proceedings. 40:465-469 |
| ISSN: | 1088-5412 |
| DOI: | 10.2500/aap.2019.40.4273 |
| Popis: | Primary immunodeficiency diseases are inherited defects of the innate or adaptive arms of the immune system that lead to an increase in the incidence, frequency, or severity of infections and/or immune dysregulation. There may be defects in the adaptive arm of the immune system, including combined immunodeficiencies and antibody deficiency syndromes, or abnormalities in innate immunity, such as defects of phagocytes, the complement pathway, or toll-like receptor mediated signaling. Recurrent sinopulmonary infections with encapsulated bacteria such as Haemophilus influenzae type B or Streptococcus pneumoniae may be characteristic of an antibody deficiency syndrome. Frequent viral, fungal, or protozoal infections may suggest T lymphocyte impairment. Multiple Staphylococcus skin infections and fungal infections may imply neutrophil dysfunction or the Hyper-IgE syndrome, and recurrent Neisseria infection is a characteristic manifestation of late complement component (C5‐9, or the membrane attack complex) defects. Recurrent viral or pyogenic bacterial infections, often without the presence of a significant inflammatory response, suggest a defect in toll-like receptor signaling. Mycobacterial infections are characteristic of defects in the interleukin (IL) 12/interferon γ pathway. Screening of newborns for T-cell lymphopenia by using polymerase chain reaction to amplify T-cell receptor excision circles, which are formed when a T cell rearranges the variable region of its receptor, serves as a surrogate for newly synthesized naive T cells. Because of very low numbers of T-cell receptor excision circles, severe combined immunodeficiency, 22q11.2 syndrome, and other causes of T-cell lymphopenia have been identified in newborns. |
| Databáze: | OpenAIRE |
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