FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2121570963> ?p ?o ?g. }

• W2121570963 endingPage "1462" @default.
• W2121570963 startingPage "1456" @default.
• W2121570963 abstract "Amorphic mutations in the X-linked nuclear factor kappaB essential modulator ( NEMO ) gene cause Incontinentia pigmenti, which is lethal in hemizygous male patients. Hypomorphic NEMO mutations in male patients lead to anhidrotic ectodermal dysplasia (EDA) with immunodeficiency.To report the clinical features of a child bearing a NEMO mutation who displayed an immunodeficiency without EDA.Documentation of clinical care, chart review, standard immunologic and microbiological laboratory techniques, mutation analysis of the NEMO gene.Since the age of 15 months, the patient had Mycobacterium avium disease, beginning with multiple adenitis, later followed by disseminated osteomyelitis and dermatitis. In addition, Haemophilus influenzae and Streptococcus pneumoniae infections led to bronchiectasis. An immunologic work-up revealed a low production of IFN-gamma by PBMCs associated with a hyper-IgM phenotype. Despite treatment using repeated cycles of a 4-drug antimycobacterial regimen, continuous subcutaneous IFN-gamma, repeated antibiotic treatment, and intravenous immunoglobulin substitution, the boy remained chronically ill. At the age of 12 years, the disease was complicated by severe autoimmune hemolytic anemia and eventually fatal herpes simplex virus 1 encephalitis despite high-dose acyclovir therapy. Although he did not present any sign of EDA, a novel type of disease-causing hypomorphic NEMO mutation (110-111insC in exon 2) was identified.This case demonstrates that patients hemizygous for NEMO mutations can present with an immunodeficiency without EDA. An investigation of NEMO should thus be undertaken in selected children with immunodeficiency despite the lack of EDA." @default.
• W2121570963 created "2016-06-24" @default.
• W2121570963 creator A5001971647 @default.
• W2121570963 creator A5006551550 @default.
• W2121570963 creator A5018310803 @default.
• W2121570963 creator A5045183692 @default.
• W2121570963 creator A5045822524 @default.
• W2121570963 creator A5047928635 @default.
• W2121570963 creator A5053719643 @default.
• W2121570963 creator A5059613007 @default.
• W2121570963 creator A5062601012 @default.
• W2121570963 creator A5064247559 @default.
• W2121570963 creator A5068637996 @default.
• W2121570963 creator A5090884203 @default.
• W2121570963 date "2004-12-01" @default.
• W2121570963 modified "2023-10-14" @default.
• W2121570963 title "Nuclear factor κB essential modulator–deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia" @default.
• W2121570963 cites W1494122660 @default.
• W2121570963 cites W1502772682 @default.
• W2121570963 cites W1554130371 @default.
• W2121570963 cites W1629078953 @default.
• W2121570963 cites W1960019959 @default.
• W2121570963 cites W1964444253 @default.
• W2121570963 cites W1969829298 @default.
• W2121570963 cites W1992126368 @default.
• W2121570963 cites W2004911925 @default.
• W2121570963 cites W2007644545 @default.
• W2121570963 cites W2019683122 @default.
• W2121570963 cites W2028362346 @default.
• W2121570963 cites W2056107229 @default.
• W2121570963 cites W2063038604 @default.
• W2121570963 cites W2086116383 @default.
• W2121570963 cites W2114338479 @default.
• W2121570963 cites W2130122613 @default.
• W2121570963 cites W2133092947 @default.
• W2121570963 cites W2156582269 @default.
• W2121570963 cites W2161317953 @default.
• W2121570963 cites W2170683511 @default.
• W2121570963 cites W2170879723 @default.
• W2121570963 cites W2171382646 @default.
• W2121570963 cites W2328207062 @default.
• W2121570963 cites W4248251963 @default.
• W2121570963 cites W4255845059 @default.
• W2121570963 doi "https://doi.org/10.1016/j.jaci.2004.08.047" @default.
• W2121570963 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15577852" @default.
• W2121570963 hasPublicationYear "2004" @default.
• W2121570963 type Work @default.
• W2121570963 sameAs 2121570963 @default.
• W2121570963 citedByCount "115" @default.
• W2121570963 countsByYear W21215709632012 @default.
• W2121570963 countsByYear W21215709632013 @default.
• W2121570963 countsByYear W21215709632014 @default.
• W2121570963 countsByYear W21215709632015 @default.
• W2121570963 countsByYear W21215709632016 @default.
• W2121570963 countsByYear W21215709632017 @default.
• W2121570963 countsByYear W21215709632018 @default.
• W2121570963 countsByYear W21215709632019 @default.
• W2121570963 countsByYear W21215709632020 @default.
• W2121570963 countsByYear W21215709632021 @default.
• W2121570963 countsByYear W21215709632022 @default.
• W2121570963 countsByYear W21215709632023 @default.
• W2121570963 crossrefType "journal-article" @default.
• W2121570963 hasAuthorship W2121570963A5001971647 @default.
• W2121570963 hasAuthorship W2121570963A5006551550 @default.
• W2121570963 hasAuthorship W2121570963A5018310803 @default.
• W2121570963 hasAuthorship W2121570963A5045183692 @default.
• W2121570963 hasAuthorship W2121570963A5045822524 @default.
• W2121570963 hasAuthorship W2121570963A5047928635 @default.
• W2121570963 hasAuthorship W2121570963A5053719643 @default.
• W2121570963 hasAuthorship W2121570963A5059613007 @default.
• W2121570963 hasAuthorship W2121570963A5062601012 @default.
• W2121570963 hasAuthorship W2121570963A5064247559 @default.
• W2121570963 hasAuthorship W2121570963A5068637996 @default.
• W2121570963 hasAuthorship W2121570963A5090884203 @default.
• W2121570963 hasConcept C104317684 @default.
• W2121570963 hasConcept C203014093 @default.
• W2121570963 hasConcept C2777607303 @default.
• W2121570963 hasConcept C2779019163 @default.
• W2121570963 hasConcept C2779468541 @default.
• W2121570963 hasConcept C55493867 @default.
• W2121570963 hasConcept C71924100 @default.
• W2121570963 hasConcept C86803240 @default.
• W2121570963 hasConcept C8891405 @default.
• W2121570963 hasConceptScore W2121570963C104317684 @default.
• W2121570963 hasConceptScore W2121570963C203014093 @default.
• W2121570963 hasConceptScore W2121570963C2777607303 @default.
• W2121570963 hasConceptScore W2121570963C2779019163 @default.
• W2121570963 hasConceptScore W2121570963C2779468541 @default.
• W2121570963 hasConceptScore W2121570963C55493867 @default.
• W2121570963 hasConceptScore W2121570963C71924100 @default.
• W2121570963 hasConceptScore W2121570963C86803240 @default.
• W2121570963 hasConceptScore W2121570963C8891405 @default.
• W2121570963 hasIssue "6" @default.
• W2121570963 hasLocation W21215709631 @default.
• W2121570963 hasLocation W21215709632 @default.
• W2121570963 hasOpenAccess W2121570963 @default.
• W2121570963 hasPrimaryLocation W21215709631 @default.
• W2121570963 hasRelatedWork W1529895235 @default.

• next