X-linked agammaglobulinemia presenting as polymicrobial pneumonia, including Pneumocystis jirovecii
| Autor: | D.W. Rosenthal, Artemio M. Jongco, Kyle Sarnataro, Jonathan D. Gough, Punita Ponda, Vincent R. Bonagura, Joanne Moreau |
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| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Pulmonary and Respiratory Medicine
biology business.industry Immunology X-linked agammaglobulinemia Gene mutation biology.organism_classification medicine.disease Virology Article Pneumonia Immune system Protein kinase domain hemic and lymphatic diseases parasitic diseases biology.protein Immunology and Allergy Medicine Pneumocystis jirovecii Bruton's tyrosine kinase Antibody business |
| Popis: | Pneumocystis jirovecii pneumonia is an opportunistic pulmonary infection usually associated with T-cell defects. Clinical and murine studies demonstrate that B-cells and Pneumocystis-specific antibodies also contribute to effective immune responses.1 Patients with primary humoral immunodeficiencies, including X-linked agammaglobulinemia (XLA), may develop P . jirovecii pneumonia despite normal T-cell number and function.2,3 XLA arises from Bruton tyrosine kinase (BTK) gene mutations, leading to pre-B-cell differentiation arrest, absence of immunoglobulin expression, and increased susceptibility to bacterial/enteroviral infections.4 Although more than 600 BTK mutations have been described, new variations/mutations continue to be identified. We describe an infant with a novel BTK kinase domain variation who presented with polymicrobial pneumonia, including P. jirovecii. |
| Databáze: | OpenAIRE |
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