FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1983670187> ?p ?o ?g. }

• W1983670187 endingPage "412" @default.
• W1983670187 startingPage "402" @default.
• W1983670187 abstract "BackgroundMutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management.ObjectivesWe sought to define the clinical features that distinguish DOCK8 deficiency from other forms of HIES and CIDs, study the mutational spectrum of DOCK8 deficiency, and report on the frequency of specific clinical findings.MethodsEighty-two patients from 60 families with CID and the phenotype of AR-HIES with (64 patients) and without (18 patients) DOCK8 mutations were studied. Support vector machines were used to compare clinical data from 35 patients with DOCK8 deficiency with those from 10 patients with AR-HIES without a DOCK8 mutation and 64 patients with signal transducer and activator of transcription 3 (STAT3) mutations.ResultsDOCK8-deficient patients had median IgE levels of 5201 IU, high eosinophil levels of usually at least 800/μL (92% of patients), and low IgM levels (62%). About 20% of patients were lymphopenic, mainly because of low CD4+ and CD8+ T-cell counts. Fewer than half of the patients tested produced normal specific antibody responses to recall antigens. Bacterial (84%), viral (78%), and fungal (70%) infections were frequently observed. Skin abscesses (60%) and allergies (73%) were common clinical problems. In contrast to STAT3 deficiency, there were few pneumatoceles, bone fractures, and teething problems. Mortality was high (34%). A combination of 5 clinical features was helpful in distinguishing patients with DOCK8 mutations from those with STAT3 mutations.ConclusionsDOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels who have a diagnosis of HIES plus hypereosinophilia and upper respiratory tract infections in the absence of parenchymal lung abnormalities, retained primary teeth, and minimal trauma fractures. Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management. We sought to define the clinical features that distinguish DOCK8 deficiency from other forms of HIES and CIDs, study the mutational spectrum of DOCK8 deficiency, and report on the frequency of specific clinical findings. Eighty-two patients from 60 families with CID and the phenotype of AR-HIES with (64 patients) and without (18 patients) DOCK8 mutations were studied. Support vector machines were used to compare clinical data from 35 patients with DOCK8 deficiency with those from 10 patients with AR-HIES without a DOCK8 mutation and 64 patients with signal transducer and activator of transcription 3 (STAT3) mutations. DOCK8-deficient patients had median IgE levels of 5201 IU, high eosinophil levels of usually at least 800/μL (92% of patients), and low IgM levels (62%). About 20% of patients were lymphopenic, mainly because of low CD4+ and CD8+ T-cell counts. Fewer than half of the patients tested produced normal specific antibody responses to recall antigens. Bacterial (84%), viral (78%), and fungal (70%) infections were frequently observed. Skin abscesses (60%) and allergies (73%) were common clinical problems. In contrast to STAT3 deficiency, there were few pneumatoceles, bone fractures, and teething problems. Mortality was high (34%). A combination of 5 clinical features was helpful in distinguishing patients with DOCK8 mutations from those with STAT3 mutations. DOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels who have a diagnosis of HIES plus hypereosinophilia and upper respiratory tract infections in the absence of parenchymal lung abnormalities, retained primary teeth, and minimal trauma fractures." @default.
• W1983670187 created "2016-06-24" @default.
• W1983670187 creator A5000317216 @default.
• W1983670187 creator A5001911137 @default.
• W1983670187 creator A5002120279 @default.
• W1983670187 creator A5009300900 @default.
• W1983670187 creator A5009429019 @default.
• W1983670187 creator A5012115345 @default.
• W1983670187 creator A5013667637 @default.
• W1983670187 creator A5013983797 @default.
• W1983670187 creator A5014024986 @default.
• W1983670187 creator A5014976218 @default.
• W1983670187 creator A5014990865 @default.
• W1983670187 creator A5020939794 @default.
• W1983670187 creator A5021056514 @default.
• W1983670187 creator A5021189033 @default.
• W1983670187 creator A5024492632 @default.
• W1983670187 creator A5027280392 @default.
• W1983670187 creator A5028274410 @default.
• W1983670187 creator A5028804707 @default.
• W1983670187 creator A5031620189 @default.
• W1983670187 creator A5032223113 @default.
• W1983670187 creator A5036212344 @default.
• W1983670187 creator A5037180436 @default.
• W1983670187 creator A5041892069 @default.
• W1983670187 creator A5042002351 @default.
• W1983670187 creator A5043978398 @default.
• W1983670187 creator A5045076499 @default.
• W1983670187 creator A5045822524 @default.
• W1983670187 creator A5046604520 @default.
• W1983670187 creator A5048379219 @default.
• W1983670187 creator A5048891191 @default.
• W1983670187 creator A5052714741 @default.
• W1983670187 creator A5054136557 @default.
• W1983670187 creator A5055087460 @default.
• W1983670187 creator A5057851543 @default.
• W1983670187 creator A5058186614 @default.
• W1983670187 creator A5059548456 @default.
• W1983670187 creator A5060859856 @default.
• W1983670187 creator A5061093687 @default.
• W1983670187 creator A5061790555 @default.
• W1983670187 creator A5063867007 @default.
• W1983670187 creator A5065037366 @default.
• W1983670187 creator A5067728776 @default.
• W1983670187 creator A5068888281 @default.
• W1983670187 creator A5068989435 @default.
• W1983670187 creator A5069080143 @default.
• W1983670187 creator A5069893143 @default.
• W1983670187 creator A5070104167 @default.
• W1983670187 creator A5070228992 @default.
• W1983670187 creator A5072388157 @default.
• W1983670187 creator A5074099046 @default.
• W1983670187 creator A5074508362 @default.
• W1983670187 creator A5074841226 @default.
• W1983670187 creator A5084743215 @default.
• W1983670187 creator A5087790222 @default.
• W1983670187 creator A5089086915 @default.
• W1983670187 creator A5090793548 @default.
• W1983670187 creator A5091303789 @default.
• W1983670187 date "2015-08-01" @default.
• W1983670187 modified "2023-10-18" @default.
• W1983670187 title "The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency" @default.
• W1983670187 cites W1965284880 @default.
• W1983670187 cites W1975360666 @default.
• W1983670187 cites W1982323892 @default.
• W1983670187 cites W1982569850 @default.
• W1983670187 cites W1983033615 @default.
• W1983670187 cites W1992126368 @default.
• W1983670187 cites W1994233311 @default.
• W1983670187 cites W1994992814 @default.
• W1983670187 cites W1995928670 @default.
• W1983670187 cites W2008336850 @default.
• W1983670187 cites W2035325286 @default.
• W1983670187 cites W2041624337 @default.
• W1983670187 cites W2050152285 @default.
• W1983670187 cites W2065864330 @default.
• W1983670187 cites W2069544366 @default.
• W1983670187 cites W2072109427 @default.
• W1983670187 cites W2077369690 @default.
• W1983670187 cites W2081930860 @default.
• W1983670187 cites W2094377686 @default.
• W1983670187 cites W2099667165 @default.
• W1983670187 cites W2102821093 @default.
• W1983670187 cites W2104497596 @default.
• W1983670187 cites W2114761168 @default.
• W1983670187 cites W2121702910 @default.
• W1983670187 cites W2126347405 @default.
• W1983670187 cites W2142127956 @default.
• W1983670187 cites W2162721157 @default.
• W1983670187 cites W2165765942 @default.
• W1983670187 cites W2171462887 @default.
• W1983670187 cites W2171625556 @default.
• W1983670187 cites W2329293925 @default.
• W1983670187 doi "https://doi.org/10.1016/j.jaci.2014.12.1945" @default.
• W1983670187 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4530066" @default.
• W1983670187 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25724123" @default.
• W1983670187 hasPublicationYear "2015" @default.
• W1983670187 type Work @default.

• next