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Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Clinical Immunology(2023)10.1016/j.clim.2023.109757Source: DataRank Database

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients is a research paper published in Clinical Immunology (2023). On theSindex it has a DataRank of 0. It has been cited 12 times.

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Open Access12 citations

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Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients · Forschungzentrum Jülich

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (12 grants)Impact (FWCI 1.19)OA: hybridTopics (127)Linked Datasets (1)DataCite Reuse (1)IDs (PubMed, OpenAlex)SDGs (1)

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Context only (not used in score)

Findable (2/2)

Has DOI
Indexed in repositories

Accessible (1/2)

Open Access

Interoperable (2/2)

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Reusable (0/3)

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Authors (39)

Alexandra Y. Kreins ORCID,Mehmet Cihangir Çatak ORCID,Royala Babayeva ORCID,Baran Erman ORCID,Heather Kenney

Live enrichment

PubMed:37689091 OpenAlex:https://openalex.org/W4386567706

Wellcome Trust

Grant: 222096/Z/20/Z

Hacettepe Üniversitesi

Grant: THD-2022\u201320180

Hacettepe Üniversitesi

Grant: 121S667

Marmara Üniversitesi

Grant: ADT-2022\u201310661

National Institute of Allergy and Infectious Diseases Division of Intramural Research

Grant: AI001222

Deutsche Forschungsgemeinschaft

Grant: 270650915

Deutsche Forschungsgemeinschaft

Grant: GRK 2158/2

TÜBİTAK

Grant: 318S202

Deutsche Forschungsgemeinschaft

Grant: unidentified

unidentified

National Institutes of Health

Grant: 1ZIAAI001222-08

Characterization of the cellular and molecular bases of inborn errors of immunity

Deutsche Forschungsgemeinschaft

Grant: 270650915/GRK 2158

Natural products and natural product analogs against therapy-resistant tumors and microorganisms: new lead structures and modes of action

Wellcome Trust

Grant: 222096

Improving the outcome of children with congenital athymia.

FWCI

1.19

Citation Percentile

0.8%

Citation Trend

2024

2025

2026

hybridLicense: cc-by

journalhttps://doi.org/10.1016/j.clim.2023.109757

publisherhttps://doi.org/10.1016/j.clim.2023.109757

publisherhttps://api.elsevier.com/content/article/PII:S152166162300520X?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S152166162300520X?httpAccept=text/plain

repositoryhttps://pubmed.ncbi.nlm.nih.gov/37689091

Fields of Study

Congenital heart defects researchCongenital Ear and Nasal AnomaliesTracheal and airway disorders0303 health sciences03 medical and health sciences

MeSH Terms

HumansPhenotypeT-LymphocytesThymus GlandSevere Combined ImmunodeficiencyPaired Box Transcription Factors

Keywords

ImmunologyAplasiaT cellImmune systemCD34Hematopoietic stem cell transplantationPenetranceBiologyEx vivoTransplantationMedicinePhenotypeStem cellInternal medicineIn vivoGeneticsCD3+ T lymphocyteex vivo studyseborrheic dermatitisT lymphocytecombined immunodeficiencyPaired Box Transcription Factorsclinical articleluciferase assayhypertelorismhypoparathyroidismInborn errors of immunityprotein functiondevelopmental delaypaired box 1 proteinsequence alignmentrecurrent infectionmicrotiacoculturetreosulfanin vitro studylymphocyte differentiationgrowth retardation610SCIDT lymphocyte activationArticlereduced intensity conditioningstop codonHumanshumanprotein expressionhypoplasiaPAX1infantile spasmerythrodermaintellectual impairmentrespiratory failureschool childmulticenter studylymphocytopeniaSevere Combined Immunodeficiencyheart atrium septum defectprotein secondary structureimmunoglobulincongenital heart malformationdrug megadoseframeshift mutationT-Lymphocytesnatural killer cell countimmunoglobulin Ahypocalcemiapreschool childpaired box transcription factorimmunoglobulin Gthymusimmunoglobulin Mcalcium blood levelcytopeniathymus transplantationDiGeorge syndromeinfo:eu-repo/classification/ddc/610azithromycinchildlarge cell lymphomaimmune reconstitutionunclassified drugOtofaciocervical syndromefemaleeosinophiliaface dysmorphiarespiratory tract infectionlevothyroxinefailure to thrivecellular immunityThymus Glandlung noduleskeleton malformationdysgammaglobulinemiapromoter regionmalelymphadenopathyneutrophiliaparathyroid hormonepneumoniacontrolled studyautoimmune hemolytic anemialymphoproliferative diseasescoliosiscalciumthymus aplasiamissense mutationparathyroid hormone blood levelfludarabineCD4 lymphocyte countembryo developmenthearing impairmentalopeciaclinical featurehypothyroidismprotein

Sustainable Development Goals

SDG 0: Good health and well-being

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

10.34734/fzj-2023-03513Forschungzentrum Jülich