Abstract
Primary immunodeficiencies (PIDs) are not solely diseases of childhood. We describe the clinical presentation and outcome for 55 adult patients with previously unrecognized PIDs. This series provides unique data regarding PIDs presenting in adulthood, and serves as a timely reminder that physicians must consider the diagnosis of PIDs in their adult patients. Using the experience gained from these patients, we outline key "warning signs" suggestive of an underlying PID. Only through increased physician awareness will patients with PIDs receive timely diagnosis and optimal management.
MeSH terms
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Adolescent
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Adult
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Agammaglobulinemia / diagnosis
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Agammaglobulinemia / genetics
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Agammaglobulinemia / immunology
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Aged
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Ataxia Telangiectasia / diagnosis
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Ataxia Telangiectasia / genetics
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Ataxia Telangiectasia / immunology
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Common Variable Immunodeficiency / diagnosis*
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Common Variable Immunodeficiency / genetics
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Common Variable Immunodeficiency / immunology*
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Complement C1 Inactivator Proteins / deficiency
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Complement C1 Inhibitor Protein
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Diagnosis, Differential
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Female
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Genetic Diseases, X-Linked / diagnosis
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Genetic Diseases, X-Linked / genetics
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Genetic Diseases, X-Linked / immunology
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Humans
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Immunity, Cellular / genetics
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Immunoglobulins / biosynthesis
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Immunoglobulins / deficiency
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Immunoglobulins / genetics
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Iran
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Job Syndrome / diagnosis
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Job Syndrome / genetics
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Job Syndrome / immunology
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Leukocyte-Adhesion Deficiency Syndrome / diagnosis
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Leukocyte-Adhesion Deficiency Syndrome / genetics
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Leukocyte-Adhesion Deficiency Syndrome / immunology
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Male
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Middle Aged
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Neutropenia / diagnosis
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Neutropenia / genetics
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Neutropenia / immunology
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Retrospective Studies
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Serpins / deficiency
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Wiskott-Aldrich Syndrome / diagnosis
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Wiskott-Aldrich Syndrome / genetics
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Wiskott-Aldrich Syndrome / immunology
Substances
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Complement C1 Inactivator Proteins
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Complement C1 Inhibitor Protein
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Immunoglobulins
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SERPING1 protein, human
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Serpins