Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions
Analyses of families affected by cold urticaria, immunodeficiency, and autoimmunity implicate mutations that activate phospholipase Cγ2 (PLCγ2), an enzyme pivotal to the translation of binding events at the cell surface to the intracellular milieu, as a cause of the disease. The genetic dissection o...
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| Published in | The New England journal of medicine Vol. 366; no. 4; pp. 330 - 338 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Waltham, MA
Massachusetts Medical Society
26.01.2012
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| Subjects | |
| Online Access | Get full text |
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| Abstract | Analyses of families affected by cold urticaria, immunodeficiency, and autoimmunity implicate mutations that activate phospholipase Cγ2 (PLCγ2), an enzyme pivotal to the translation of binding events at the cell surface to the intracellular milieu, as a cause of the disease.
The genetic dissection of unique inflammatory phenotypes can identify and elucidate immunologic pathways and mechanisms. Such investigations have ultimately led to findings whose significance extends beyond the monogenic diseases harboring the mutations. Examples include the recognition that
FOXP3
is essential for the differentiation of regulatory T cells in
Scurfy
mice and in patients with profound immune dysregulation,
1
–
4
the demonstration of a critical role for
AIRE
in thymic negative selection of T cells in patients with a specific autoimmune polyendocrinopathy,
5
and the identification of
NLRP3
as a critical regulator of interleukin-1 in families with cold-induced inflammation.
6
Cold-induced urticaria is a . . . |
|---|---|
| AbstractList | Analyses of families affected by cold urticaria, immunodeficiency, and autoimmunity implicate mutations that activate phospholipase Cγ2 (PLCγ2), an enzyme pivotal to the translation of binding events at the cell surface to the intracellular milieu, as a cause of the disease.
The genetic dissection of unique inflammatory phenotypes can identify and elucidate immunologic pathways and mechanisms. Such investigations have ultimately led to findings whose significance extends beyond the monogenic diseases harboring the mutations. Examples include the recognition that
FOXP3
is essential for the differentiation of regulatory T cells in
Scurfy
mice and in patients with profound immune dysregulation,
1
–
4
the demonstration of a critical role for
AIRE
in thymic negative selection of T cells in patients with a specific autoimmune polyendocrinopathy,
5
and the identification of
NLRP3
as a critical regulator of interleukin-1 in families with cold-induced inflammation.
6
Cold-induced urticaria is a . . . Mendelian analysis of disorders of immune regulation can provide insight into molecular pathways associated with host defense and immune tolerance.BACKGROUNDMendelian analysis of disorders of immune regulation can provide insight into molecular pathways associated with host defense and immune tolerance.We identified three families with a dominantly inherited complex of cold-induced urticaria, antibody deficiency, and susceptibility to infection and autoimmunity. Immunophenotyping methods included flow cytometry, analysis of serum immunoglobulins and autoantibodies, lymphocyte stimulation, and enzymatic assays. Genetic studies included linkage analysis, targeted Sanger sequencing, and next-generation whole-genome sequencing.METHODSWe identified three families with a dominantly inherited complex of cold-induced urticaria, antibody deficiency, and susceptibility to infection and autoimmunity. Immunophenotyping methods included flow cytometry, analysis of serum immunoglobulins and autoantibodies, lymphocyte stimulation, and enzymatic assays. Genetic studies included linkage analysis, targeted Sanger sequencing, and next-generation whole-genome sequencing.Cold urticaria occurred in all affected subjects. Other, variable manifestations included atopy, granulomatous rash, autoimmune thyroiditis, the presence of antinuclear antibodies, sinopulmonary infections, and common variable immunodeficiency. Levels of serum IgM and IgA and circulating natural killer cells and class-switched memory B cells were reduced. Linkage analysis showed a 7-Mb candidate interval on chromosome 16q in one family, overlapping by 3.5 Mb a disease-associated haplotype in a smaller family. This interval includes PLCG2, encoding phospholipase Cγ(2) (PLCγ(2)), a signaling molecule expressed in B cells, natural killer cells, and mast cells. Sequencing of complementary DNA revealed heterozygous transcripts lacking exon 19 in two families and lacking exons 20 through 22 in a third family. Genomic sequencing identified three distinct in-frame deletions that cosegregated with disease. These deletions, located within a region encoding an autoinhibitory domain, result in protein products with constitutive phospholipase activity. PLCG2-expressing cells had diminished cellular signaling at 37°C but enhanced signaling at subphysiologic temperatures.RESULTSCold urticaria occurred in all affected subjects. Other, variable manifestations included atopy, granulomatous rash, autoimmune thyroiditis, the presence of antinuclear antibodies, sinopulmonary infections, and common variable immunodeficiency. Levels of serum IgM and IgA and circulating natural killer cells and class-switched memory B cells were reduced. Linkage analysis showed a 7-Mb candidate interval on chromosome 16q in one family, overlapping by 3.5 Mb a disease-associated haplotype in a smaller family. This interval includes PLCG2, encoding phospholipase Cγ(2) (PLCγ(2)), a signaling molecule expressed in B cells, natural killer cells, and mast cells. Sequencing of complementary DNA revealed heterozygous transcripts lacking exon 19 in two families and lacking exons 20 through 22 in a third family. Genomic sequencing identified three distinct in-frame deletions that cosegregated with disease. These deletions, located within a region encoding an autoinhibitory domain, result in protein products with constitutive phospholipase activity. PLCG2-expressing cells had diminished cellular signaling at 37°C but enhanced signaling at subphysiologic temperatures.Genomic deletions in PLCG2 cause gain of PLCγ(2) function, leading to signaling abnormalities in multiple leukocyte subsets and a phenotype encompassing both excessive and deficient immune function. (Funded by the National Institutes of Health Intramural Research Programs and others.).CONCLUSIONSGenomic deletions in PLCG2 cause gain of PLCγ(2) function, leading to signaling abnormalities in multiple leukocyte subsets and a phenotype encompassing both excessive and deficient immune function. (Funded by the National Institutes of Health Intramural Research Programs and others.). BackgroundMendelian analysis of disorders of immune regulation can provide insight into molecular pathways associated with host defense and immune tolerance.MethodsWe identified three families with a dominantly inherited complex of cold-induced urticaria, antibody deficiency, and susceptibility to infection and autoimmunity. Immunophenotyping methods included flow cytometry, analysis of serum immunoglobulins and autoantibodies, lymphocyte stimulation, and enzymatic assays. Genetic studies included linkage analysis, targeted Sanger sequencing, and next-generation whole-genome sequencing.ResultsCold urticaria occurred in all affected subjects. Other, variable manifestations included atopy, granulomatous rash, autoimmune thyroiditis, the presence of antinuclear antibodies, sinopulmonary infections, and common variable immunodeficiency. Levels of serum IgM and IgA and circulating natural killer cells and class-switched memory B cells were reduced. Linkage analysis showed a 7-Mb candidate interval on chromosome 16q in one family, overlapping by 3.5 Mb a disease-associated haplotype in a smaller family. This interval includes PLCG2, encoding phospholipase Cγ2 (PLCγ2), a signaling molecule expressed in B cells, natural killer cells, and mast cells. Sequencing of complementary DNA revealed heterozygous transcripts lacking exon 19 in two families and lacking exons 20 through 22 in a third family. Genomic sequencing identified three distinct in-frame deletions that cosegregated with disease. These deletions, located within a region encoding an autoinhibitory domain, result in protein products with constitutive phospholipase activity. PLCG2-expressing cells had diminished cellular signaling at 37°C but enhanced signaling at subphysiologic temperatures.ConclusionsGenomic deletions in PLCG2 cause gain of PLCγ2 function, leading to signaling abnormalities in multiple leukocyte subsets and a phenotype encompassing both excessive and deficient immune function. (Funded by the National Institutes of Health Intramural Research Programs and others.) Mendelian analysis of disorders of immune regulation can provide insight into molecular pathways associated with host defense and immune tolerance. We identified three families with a dominantly inherited complex of cold-induced urticaria, antibody deficiency, and susceptibility to infection and autoimmunity. Immunophenotyping methods included flow cytometry, analysis of serum immunoglobulins and autoantibodies, lymphocyte stimulation, and enzymatic assays. Genetic studies included linkage analysis, targeted Sanger sequencing, and next-generation whole-genome sequencing. Cold urticaria occurred in all affected subjects. Other, variable manifestations included atopy, granulomatous rash, autoimmune thyroiditis, the presence of antinuclear antibodies, sinopulmonary infections, and common variable immunodeficiency. Levels of serum IgM and IgA and circulating natural killer cells and class-switched memory B cells were reduced. Linkage analysis showed a 7-Mb candidate interval on chromosome 16q in one family, overlapping by 3.5 Mb a disease-associated haplotype in a smaller family. This interval includes PLCG2, encoding phospholipase Cγ(2) (PLCγ(2)), a signaling molecule expressed in B cells, natural killer cells, and mast cells. Sequencing of complementary DNA revealed heterozygous transcripts lacking exon 19 in two families and lacking exons 20 through 22 in a third family. Genomic sequencing identified three distinct in-frame deletions that cosegregated with disease. These deletions, located within a region encoding an autoinhibitory domain, result in protein products with constitutive phospholipase activity. PLCG2-expressing cells had diminished cellular signaling at 37°C but enhanced signaling at subphysiologic temperatures. Genomic deletions in PLCG2 cause gain of PLCγ(2) function, leading to signaling abnormalities in multiple leukocyte subsets and a phenotype encompassing both excessive and deficient immune function. (Funded by the National Institutes of Health Intramural Research Programs and others.). |
| Author | Aksentijevich, Ivona Cirulli, Elizabeth T Douek, Daniel C Martins, Marta S Meffre, Eric Lee, Hane Remmers, Elaine F Long, Eric O Sun, Guangping Goldstein, David B Torabi-Parizi, Parizad Holland, Steven M Wanderer, Alan A Ombrello, Michael J Freeman, Alexandra F Subramanian, Naeha Datta, Shrimati Metcalfe, Dean D O'Brien, Michelle Bunney, Tom D Gandhi, Chhavi Hoffman, Hal M Komarow, Hirsh Milner, Joshua D Gilfillan, Alasdair M Nelson, Stanley F Stone, Kelly Baxendale, Rhona W Ho, Jason Wisch, Laura Moir, Susan Shianna, Kevin V Nelson, Celeste Romberg, Neil Katan, Matilda Cruse, Glenn Kastner, Daniel L Kim, Hun Sik Jung, Mi-Yeon |
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| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25466978$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/22236196$$D View this record in MEDLINE/PubMed |
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| Snippet | Analyses of families affected by cold urticaria, immunodeficiency, and autoimmunity implicate mutations that activate phospholipase Cγ2 (PLCγ2), an enzyme... Mendelian analysis of disorders of immune regulation can provide insight into molecular pathways associated with host defense and immune tolerance. We... BackgroundMendelian analysis of disorders of immune regulation can provide insight into molecular pathways associated with host defense and immune... Mendelian analysis of disorders of immune regulation can provide insight into molecular pathways associated with host defense and immune... |
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| SubjectTerms | Antinuclear antibodies Atopy Autoantibodies Autoimmune diseases Autoimmune Diseases - genetics Autoimmunity Biological and medical sciences Cells Cold Cold Temperature - adverse effects Common variable immunodeficiency Complementary DNA Cryopyrin-Associated Periodic Syndromes - genetics Dermatitis Disease DNA sequencing DNA, Complementary - analysis DNA, Complementary - isolation & purification Exons Female Flow cytometry General aspects Genetic analysis Genomes Haplotypes Humans Immune response Immunodeficiencies Immunodeficiencies. Immunoglobulinopathies Immunoglobulin A Immunoglobulin M Immunologic Deficiency Syndromes - genetics Immunological memory Immunological tolerance Immunopathology Immunoregulation Linkage analysis Lymphocytes B Male Mast cells Medical sciences Natural killer cells Pedigree Phenotype Phenotypes Phospholipase C gamma - genetics Phospholipase C gamma - metabolism Polymorphism, Single Nucleotide Proteins Research programs Sequence Analysis, DNA Sequence Deletion Thyroiditis Urticaria |
| Title | Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions |
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