Evidence map›Paper›PMID 30778533›Full record

ArticleClinical infectious diseases : an official publication of the Infectious Diseases Society of America2019

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.

Leila Youssefian, Hassan Vahidnezhad, Mehdi Yousefi, Amir Hossein Saeidian, Arghavan Azizpour, Andrew Touati, Neda Nikbakht, Kambiz Kamyab- Hesari, Mohammad Mahdi Adib-Sereshki, Sirous Zeinali and 7 more

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in Clinical infectious diseases : an official publication of the Infectious Diseases Society of America, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
2.3field-weighted citation impact, top 10% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.

  1. Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Pooled it
  2. Genotype-phenotype correlations and cancer risk in monogenic epidermodysplasia verruciformis.Journal of the European Academy of Dermatology and Venereology : JEADV · 2026
    Article
  3. Article
  4. Article
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  6. The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025
    Review
  7. Article
  8. Article
  9. Article
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  12. Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency.The Journal of investigative dermatology · 2022
    Article
  13. Article
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  15. Review
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  18. [Epstein-Barr virus-associated smooth muscle tumor in a girl].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2021
    Article
  19. Review
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 12 institutions in 3 countries.

Leila YoussefianDepartment of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.
Hassan VahidnezhadDepartment of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.
Mehdi YousefiDepartment of Immunology, Faculty of Medicine, Tehran University of Medical Sciences, Iran.
Amir Hossein SaeidianDepartment of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.
Arghavan AzizpourDepartment of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Iran.
Andrew TouatiDepartment of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.
Neda NikbakhtDepartment of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.
Kambiz Kamyab- HesariDepartment of Pathology, Razi Hospital, Tehran University of Medical Sciences, Tehran.
Mohammad Mahdi Adib-SereshkiGastrointestinal and Liver Diseases Research Center, Firoozgar Hospital, Iran University of Medical Sciences, Tehran.
Sirous ZeinaliBiotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran.
Behzad MansooriImmunology Research Center, Tehran.
Ali JazayeriDepartment of Information Science, College of Computing and Informatics, Drexel University, Philadelphia, Pennsylvania.
Razieh KaramzadehDepartment of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, Academic Center for Education, Culture and Research, Tehran, Iran.
Paolo FortinaCancer Genomics and Bioinformatics, Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania.
Emmanuelle JouanguySt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York.
Jean-Laurent CasanovaSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York.
Jouni UittoDepartment of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.
Jefferson Institute · USTehran University of Medical Sciences · IRPasteur Institute of Iran · IRDrexel University · USFiroozgar General Hospital · IRInserm · FRRazi Hospital · IRRockefeller University · USRoyan Institute · IRSidney Kimmel Cancer Center · USTabriz University of Medical Sciences · IRThomas Jefferson University · US

Funding

Molecular and cellular basis of epidermodysplasia verruciformisR01AI143810 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT, JOUANGUY, EMMANUELLE · 2020 to 2024
$2.0M
Molecular genetic dissection of epidermodysplasia verruciformisR21AI107508 · NIAID · ROCKEFELLER UNIVERSITY · PI JOUANGUY, EMMANUELLE · 2014 to 2015
$466k
Howard Hughes Medical InstituteNIAID NIH HHS R01 AI143810NIAID NIH HHS R21 AI107508
6 · The paper itself

Abstract

Biallelic mutations in the ITK gene cause a T-cell primary immunodeficiency with Epstein-Barr virus (EBV)-lymphoproliferative disorders. We describe a novel association of a homozygous ITK mutation with β-human papillomavirus (HPV)-positive epidermodysplasia verruciformis. Thus, loss of function in ITK can result in broad dysregulation of T-cell responses to oncogenic viruses, including β-HPV and EBV.

Indexed as

Loss of Function MutationAcitretinAdultAllelesDrug TherapyEpidermodysplasia VerruciformisEpstein-Barr Virus InfectionsFemaleGenetic Association StudiesHodgkin DiseaseHomozygoteHumansKeratolytic AgentsLymphoproliferative DisordersMalePapillomaviridaeAcitretinemt protein-tyrosine kinaseKeratolytic AgentsProtein-Tyrosine KinasesEBV infectionepidermodysplasia verruciformishuman papillomavirusimmunodeficiencyITK

Identifiers

PMID30778533
PMCPMC7317279
OpenAlexW2916531631

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.