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Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1
The role of class IA phosphoinositide 3 kinases (PI3Ks) in immune function and regulation continues to expand with the identification of greater numbers of genetic variants. This case report is the second reported case of a homozygous premature stop codon within the PIK3R1 gene leading to autosomal...
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| Published in: | Journal of clinical immunology 2018, Vol.38 (1), p.88-95 |
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| cites | cdi_FETCH-LOGICAL-c372t-aecec30bbcd6fc761239542832e1d268136b254a9c6f744398a5c88b83c411853 |
| container_end_page | 95 |
| container_issue | 1 |
| container_start_page | 88 |
| container_title | Journal of clinical immunology |
| container_volume | 38 |
| creator | Tang, Paoyun Upton, Julia E. M. Barton-Forbes, Michelle A. Salvadori, Marina I. Clynick, Meghan P. Price, April K. Goobie, Sharan L. |
| description | The role of class IA phosphoinositide 3 kinases (PI3Ks) in immune function and regulation continues to expand with the identification of greater numbers of genetic variants. This case report is the second reported case of a homozygous premature stop codon within the
PIK3R1
gene leading to autosomal recessive agammaglobulinemia. The proband, born to consanguineous parents, presented at 10 months of age with a history of oropharyngeal petechiae and bleeding from the mouth, gums, and tear ducts. Initial investigations revealed thrombocytopenia, neutropenia and the absence of B cells. Further genetic testing via a custom next-generation sequencing panel confirmed the presence of a homozygous mutation in
PIK3R1
, c.901 C>T, a premature stop codon at amino acid position 301. Given their many roles in immune regulation, recessive mutations in the
PlK3R1
gene should be considered in infants presenting with hypogammaglobulinemia or agammaglobulinemia, particularly in the setting of parental consanguinity. |
| doi_str_mv | 10.1007/s10875-017-0462-y |
| format | article |
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PIK3R1
gene leading to autosomal recessive agammaglobulinemia. The proband, born to consanguineous parents, presented at 10 months of age with a history of oropharyngeal petechiae and bleeding from the mouth, gums, and tear ducts. Initial investigations revealed thrombocytopenia, neutropenia and the absence of B cells. Further genetic testing via a custom next-generation sequencing panel confirmed the presence of a homozygous mutation in
PIK3R1
, c.901 C>T, a premature stop codon at amino acid position 301. Given their many roles in immune regulation, recessive mutations in the
PlK3R1
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PIK3R1
gene leading to autosomal recessive agammaglobulinemia. The proband, born to consanguineous parents, presented at 10 months of age with a history of oropharyngeal petechiae and bleeding from the mouth, gums, and tear ducts. Initial investigations revealed thrombocytopenia, neutropenia and the absence of B cells. Further genetic testing via a custom next-generation sequencing panel confirmed the presence of a homozygous mutation in
PIK3R1
, c.901 C>T, a premature stop codon at amino acid position 301. Given their many roles in immune regulation, recessive mutations in the
PlK3R1
gene should be considered in infants presenting with hypogammaglobulinemia or agammaglobulinemia, particularly in the setting of parental consanguinity.</description><subject>Agammaglobulinemia</subject><subject>Agammaglobulinemia - diagnosis</subject><subject>Agammaglobulinemia - genetics</subject><subject>Amino acids</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Consanguinity</subject><subject>Female</subject><subject>Genetic diversity</subject><subject>Genetic screening</subject><subject>Hemorrhage</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Hypogammaglobulinemia</subject><subject>Immune response</subject><subject>Immunology</subject><subject>Immunoregulation</subject><subject>Infant</subject><subject>Infants</subject><subject>Infectious Diseases</subject><subject>Internal Medicine</subject><subject>Lacrimal gland and Nasolacrimal duct</subject><subject>Lymphocytes B</subject><subject>Male</subject><subject>Medical Microbiology</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Neutropenia</subject><subject>Nonsense mutation</subject><subject>Original Article</subject><subject>Pedigree</subject><subject>Phosphatidylinositol 3-Kinases - genetics</subject><subject>Purpura</subject><subject>Stop codon</subject><subject>Thrombocytopenia</subject><issn>0271-9142</issn><issn>1573-2592</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><recordid>eNp1kE1LAzEQhoMoWqs_wIsEvHhZzSSbr2OpHy0qiug5ZNO0rOxu6mZXqL_elFYRwdMc5nnfGR6EToBcACHyMgJRkmcEZEZyQbPVDhoAlyyjXNNdNCBUQqYhpwfoMMY3QggTlO-jA6pBKsLZAD2M-i7EUNsKP3vnYyw_PB4tbF3bRRWKviobX5cWX_UedwFbPAl1-FwtQh_xQ9_ZrgwNLhv8NL1jz3CE9ua2iv54O4fo9eb6ZTzJ7h9vp-PRfeaYpF1m0yXHSFG4mZg7KYAyzXOqGPUwo0IBEwXludVOzGWeM60sd0oVirkcQHE2ROeb3mUb3nsfO1OX0fmqso1PnxnQQmuWimRCz_6gb6Fvm_TdmlKgCBUiUbChXBtibP3cLNuytu3KADFr12bj2iTXZu3arFLmdNvcF7Wf_SS-5SaAboCYVs3Ct79O_9v6BfaWiBI</recordid><startdate>2018</startdate><enddate>2018</enddate><creator>Tang, Paoyun</creator><creator>Upton, Julia E. 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M.</au><au>Barton-Forbes, Michelle A.</au><au>Salvadori, Marina I.</au><au>Clynick, Meghan P.</au><au>Price, April K.</au><au>Goobie, Sharan L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1</atitle><jtitle>Journal of clinical immunology</jtitle><stitle>J Clin Immunol</stitle><addtitle>J Clin Immunol</addtitle><date>2018</date><risdate>2018</risdate><volume>38</volume><issue>1</issue><spage>88</spage><epage>95</epage><pages>88-95</pages><issn>0271-9142</issn><eissn>1573-2592</eissn><abstract>The role of class IA phosphoinositide 3 kinases (PI3Ks) in immune function and regulation continues to expand with the identification of greater numbers of genetic variants. This case report is the second reported case of a homozygous premature stop codon within the
PIK3R1
gene leading to autosomal recessive agammaglobulinemia. The proband, born to consanguineous parents, presented at 10 months of age with a history of oropharyngeal petechiae and bleeding from the mouth, gums, and tear ducts. Initial investigations revealed thrombocytopenia, neutropenia and the absence of B cells. Further genetic testing via a custom next-generation sequencing panel confirmed the presence of a homozygous mutation in
PIK3R1
, c.901 C>T, a premature stop codon at amino acid position 301. Given their many roles in immune regulation, recessive mutations in the
PlK3R1
gene should be considered in infants presenting with hypogammaglobulinemia or agammaglobulinemia, particularly in the setting of parental consanguinity.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>29178053</pmid><doi>10.1007/s10875-017-0462-y</doi><tpages>8</tpages></addata></record> |
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| ispartof | Journal of clinical immunology, 2018, Vol.38 (1), p.88-95 |
| issn | 0271-9142 1573-2592 |
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| source | Springer Nature |
| subjects | Agammaglobulinemia Agammaglobulinemia - diagnosis Agammaglobulinemia - genetics Amino acids Biomedical and Life Sciences Biomedicine Consanguinity Female Genetic diversity Genetic screening Hemorrhage High-Throughput Nucleotide Sequencing Homozygote Humans Hypogammaglobulinemia Immune response Immunology Immunoregulation Infant Infants Infectious Diseases Internal Medicine Lacrimal gland and Nasolacrimal duct Lymphocytes B Male Medical Microbiology Mutation Mutation - genetics Neutropenia Nonsense mutation Original Article Pedigree Phosphatidylinositol 3-Kinases - genetics Purpura Stop codon Thrombocytopenia |
| title | Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1 |
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