Abstract
Manifestations of immunodeficiency within the same family are presumed to be the same disease. We report a consanguineous extended family where four patients have immunodeficiency, three have X-linked agammaglobulinaemia and one has major histocompatibility complex class 2 deficiency. Within one family, two rare genetic diseases with similar clinical manifestations can occur.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Agammaglobulinaemia Tyrosine Kinase
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Agammaglobulinemia / drug therapy
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Agammaglobulinemia / genetics*
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Agammaglobulinemia / immunology
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Consanguinity
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Exons / genetics
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Exons / immunology
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Female
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Genetic Diseases, X-Linked / drug therapy
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / immunology
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Histocompatibility Antigens Class II / genetics*
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Histocompatibility Antigens Class II / immunology
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Humans
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Immunoglobulins, Intravenous / therapeutic use
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Infant
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Introns / genetics
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Introns / immunology
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Male
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Pedigree
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Promoter Regions, Genetic
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Protein-Tyrosine Kinases / genetics*
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Protein-Tyrosine Kinases / immunology
Substances
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Histocompatibility Antigens Class II
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Immunoglobulins, Intravenous
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Protein-Tyrosine Kinases
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Agammaglobulinaemia Tyrosine Kinase