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Severe course of community-acquired pneumonia in an adult patient who is heterozygous for Q481P in the perforin gene: are carriers of the mutation free of risk?
- Source :
-
Journal of investigational allergology & clinical immunology [J Investig Allergol Clin Immunol] 2009; Vol. 19 (4), pp. 311-6. - Publication Year :
- 2009
-
Abstract
- Most cases of autosomal recessive hemophagocytic lymphohistiocytosis (HLH) are associated with over 50 mutations in the perforin gene. Some of these mutations have no clear functional association. Only homozygous patients display a full-blown syndrome, whereas no severe disease has been described in heterozygous carriers of these mutations despite the presence of functional and phenotypic alterations in cytotoxic cells. We study the family of a child who died from HLH at 6 months of age due to a Q481P mutation in the perforin gene. The study is particularly interesting because the patient's heterozygous father experienced severe community-acquired pneumonia that could be attributed to deficient in vitro NK cell activity despite normal perforin expression. This case report suggests that impaired NK cell activity in a heterozygote can result in poorer initial control of infections with severe clinical expression.
- Subjects :
- Adult
Bronchopneumonia complications
Bronchopneumonia immunology
Bronchopneumonia physiopathology
Community-Acquired Infections complications
Community-Acquired Infections immunology
Community-Acquired Infections physiopathology
Cytotoxicity, Immunologic genetics
Cytotoxicity, Immunologic immunology
DNA Mutational Analysis
Fatal Outcome
Fathers
Female
Fever
Genetic Predisposition to Disease
Heterozygote
Humans
Infant
Liver Failure
Lymphohistiocytosis, Hemophagocytic immunology
Lymphohistiocytosis, Hemophagocytic physiopathology
Male
Opportunistic Infections complications
Opportunistic Infections immunology
Opportunistic Infections physiopathology
Pedigree
Perforin
Polymorphism, Genetic
Pore Forming Cytotoxic Proteins immunology
Pore Forming Cytotoxic Proteins metabolism
Bronchopneumonia genetics
Community-Acquired Infections genetics
Lymphohistiocytosis, Hemophagocytic genetics
Opportunistic Infections genetics
Pore Forming Cytotoxic Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1018-9068
- Volume :
- 19
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Journal of investigational allergology & clinical immunology
- Publication Type :
- Academic Journal
- Accession number :
- 19639728