FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3048376590> ?p ?o ?g. }

• W3048376590 abstract "Monosomy 7 is generally considered as an acquired cytogenetic abnormality within hematopoietic cells, and indicates an especially high risk of progression to bone marrow failure, myelodysplastic syndrome (MDS) or juvenile myelomonocytic leukemia (JMML). We report a case of a 6-month-old female infant with mosaic monosomy 7 who presented with clinical and laboratory evidences of immunodeficiency. The patient had suffered from recurrent respiratory infections since she was born. Peripheral blood lymphocyte subsets revealed an extremely low level of CD19+ B lymphocytes (0.3∼0.8%, normal range: 6.4∼22.6%) and a decreased CD4/CD8 ratio (0.67∼1.12, normal range: 1.4∼2.0). Decreased serum levels of IgG (1.53 g/L, normal range: 4.09∼7.03 g/L), IgA (0.10 g/L, normal range: 0.21∼0.47 g/L) and IgM (0.26 g/L, normal range: 0.33∼0.73 g/L) were detected, while complements were normal. Excepting transient neutropenia, routine blood tests were within normal limits. Clinical exome sequencing identified a de novo mosaic monosomy 7, while no pathogenic mutation associated with immunodeficiency was detected. However, peripheral blood cytogenetic analysis was failure to detect monosomy 7 due to the very few cell mitosis. Subsequent fluorescence in situ hybridization (FISH) identified a mosaic monosomy 7 in 58 cells within a total number of 100 cells, which was consistent with clinical exome sequencing. Therefore, the patient was diagnosed with primary immunodeficiency disease (PID) due to mosaic monosomy 7. Intravenous treatment with multiple antibiotic agents and infusion of gamma globulin could control the patient's respiratory infections effectively. A better understanding of PIDs will enable effective treatments and prevention of infections in these patients." @default.
• W3048376590 created "2020-08-18" @default.
• W3048376590 creator A5008500554 @default.
• W3048376590 creator A5014686940 @default.
• W3048376590 creator A5016721902 @default.
• W3048376590 creator A5020614620 @default.
• W3048376590 creator A5037677450 @default.
• W3048376590 creator A5049200444 @default.
• W3048376590 creator A5077381686 @default.
• W3048376590 creator A5084426170 @default.
• W3048376590 creator A5084888732 @default.
• W3048376590 creator A5091760171 @default.
• W3048376590 date "2020-09-01" @default.
• W3048376590 modified "2023-09-26" @default.
• W3048376590 title "B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old female infant with mosaic monosomy 7" @default.
• W3048376590 cites W1966858381 @default.
• W3048376590 cites W1995195969 @default.
• W3048376590 cites W1995297095 @default.
• W3048376590 cites W2000660481 @default.
• W3048376590 cites W2019338546 @default.
• W3048376590 cites W2029477694 @default.
• W3048376590 cites W2041409100 @default.
• W3048376590 cites W2052143582 @default.
• W3048376590 cites W2082824785 @default.
• W3048376590 cites W2092465555 @default.
• W3048376590 cites W2097198718 @default.
• W3048376590 cites W2106078499 @default.
• W3048376590 cites W2160525581 @default.
• W3048376590 cites W228303033 @default.
• W3048376590 cites W2293793030 @default.
• W3048376590 cites W2297114250 @default.
• W3048376590 cites W2560542232 @default.
• W3048376590 cites W2577360890 @default.
• W3048376590 cites W2593806322 @default.
• W3048376590 cites W2774787224 @default.
• W3048376590 cites W2793311185 @default.
• W3048376590 cites W2800998990 @default.
• W3048376590 cites W2805128721 @default.
• W3048376590 cites W2888682574 @default.
• W3048376590 cites W2905292156 @default.
• W3048376590 cites W2921628332 @default.
• W3048376590 cites W2937170888 @default.
• W3048376590 cites W2980684360 @default.
• W3048376590 cites W2988036531 @default.
• W3048376590 cites W2463457277 @default.
• W3048376590 doi "https://doi.org/10.1016/j.imbio.2020.152005" @default.
• W3048376590 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32962823" @default.
• W3048376590 hasPublicationYear "2020" @default.
• W3048376590 type Work @default.
• W3048376590 sameAs 3048376590 @default.
• W3048376590 citedByCount "0" @default.
• W3048376590 crossrefType "journal-article" @default.
• W3048376590 hasAuthorship W3048376590A5008500554 @default.
• W3048376590 hasAuthorship W3048376590A5014686940 @default.
• W3048376590 hasAuthorship W3048376590A5016721902 @default.
• W3048376590 hasAuthorship W3048376590A5020614620 @default.
• W3048376590 hasAuthorship W3048376590A5037677450 @default.
• W3048376590 hasAuthorship W3048376590A5049200444 @default.
• W3048376590 hasAuthorship W3048376590A5077381686 @default.
• W3048376590 hasAuthorship W3048376590A5084426170 @default.
• W3048376590 hasAuthorship W3048376590A5084888732 @default.
• W3048376590 hasAuthorship W3048376590A5091760171 @default.
• W3048376590 hasConcept C104317684 @default.
• W3048376590 hasConcept C126322002 @default.
• W3048376590 hasConcept C159654299 @default.
• W3048376590 hasConcept C174475383 @default.
• W3048376590 hasConcept C203014093 @default.
• W3048376590 hasConcept C2776694085 @default.
• W3048376590 hasConcept C2777063308 @default.
• W3048376590 hasConcept C2777805810 @default.
• W3048376590 hasConcept C2779142324 @default.
• W3048376590 hasConcept C2780365373 @default.
• W3048376590 hasConcept C30481170 @default.
• W3048376590 hasConcept C53226629 @default.
• W3048376590 hasConcept C54355233 @default.
• W3048376590 hasConcept C71924100 @default.
• W3048376590 hasConcept C86803240 @default.
• W3048376590 hasConcept C90924648 @default.
• W3048376590 hasConceptScore W3048376590C104317684 @default.
• W3048376590 hasConceptScore W3048376590C126322002 @default.
• W3048376590 hasConceptScore W3048376590C159654299 @default.
• W3048376590 hasConceptScore W3048376590C174475383 @default.
• W3048376590 hasConceptScore W3048376590C203014093 @default.
• W3048376590 hasConceptScore W3048376590C2776694085 @default.
• W3048376590 hasConceptScore W3048376590C2777063308 @default.
• W3048376590 hasConceptScore W3048376590C2777805810 @default.
• W3048376590 hasConceptScore W3048376590C2779142324 @default.
• W3048376590 hasConceptScore W3048376590C2780365373 @default.
• W3048376590 hasConceptScore W3048376590C30481170 @default.
• W3048376590 hasConceptScore W3048376590C53226629 @default.
• W3048376590 hasConceptScore W3048376590C54355233 @default.
• W3048376590 hasConceptScore W3048376590C71924100 @default.
• W3048376590 hasConceptScore W3048376590C86803240 @default.
• W3048376590 hasConceptScore W3048376590C90924648 @default.
• W3048376590 hasFunder F4320321001 @default.
• W3048376590 hasFunder F4320326685 @default.
• W3048376590 hasLocation W30483765901 @default.
• W3048376590 hasLocation W30483765902 @default.
• W3048376590 hasOpenAccess W3048376590 @default.
• W3048376590 hasPrimaryLocation W30483765901 @default.

• next