Evidence map›Paper›PMID 30477583›Full record

ArticleOrphanet journal of rare diseases2018

Immune cell phenotype and functional defects in Netherton syndrome.

Elina Eränkö, Mette Ilander, Mirja Tuomiranta, Antti Mäkitie, Tea Lassila, Anna Kreutzman, Paula Klemetti, Satu Mustjoki, Katariina Hannula-Jouppi, Annamari Ranki

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 23% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Successful management of Netherton syndrome using IVIG and dupilumab: A case report.The journal of allergy and clinical immunology. Global · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Review
  14. Skin Microbiota and Clinical Associations in Netherton Syndrome.JID innovations : skin science from molecules to population health · 2021
    Article
  15. 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

10 authors at 3 institutions in 1 country.

Elina EränköDepartment of Dermatology and Allergology, Helsinki University Hospital and University of Helsinki, P.O.Box 160, FI-00029 HUS, Helsinki, Finland. elina.eranko@helsinki.fi.
Mette IlanderHematology Research Unit Helsinki, Department of Clinical Chemistry and Hematology, University of Helsinki and Helsinki University Hospital Comprehensive Cancer Center, P.O.Box 700, FI-00029 HUS, Helsinki, Finland.
Mirja TuomirantaDermatology Unit, Seinäjoki Central Hospital, Hanneksenrinne 7, 60220, Seinäjoki, Finland.
Antti MäkitieDepartment of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and Helsinki University Hospital, P.O.Box 263, FI-00029 HUS, Helsinki, Finland.
Tea LassilaDepartment of Dermatology and Allergology, Helsinki University Hospital and University of Helsinki, P.O.Box 160, FI-00029 HUS, Helsinki, Finland.
Anna KreutzmanHematology Research Unit Helsinki, Department of Clinical Chemistry and Hematology, University of Helsinki and Helsinki University Hospital Comprehensive Cancer Center, P.O.Box 700, FI-00029 HUS, Helsinki, Finland.
Paula KlemettiChildren's hospital, Helsinki University Hospital, P.O.Box 28, FI-00029 HUS, Helsinki, Finland.
Satu MustjokiHematology Research Unit Helsinki, Department of Clinical Chemistry and Hematology, University of Helsinki and Helsinki University Hospital Comprehensive Cancer Center, P.O.Box 700, FI-00029 HUS, Helsinki, Finland.
Katariina Hannula-JouppiDepartment of Dermatology and Allergology, Helsinki University Hospital and University of Helsinki, P.O.Box 160, FI-00029 HUS, Helsinki, Finland.
Annamari RankiDepartment of Dermatology and Allergology, Helsinki University Hospital and University of Helsinki, P.O.Box 160, FI-00029 HUS, Helsinki, Finland.
Helsinki University Hospital · FIUniversity of Helsinki · FISeinäjoki University of Applied Sciences · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNetherton syndrome (NS) is a rare life-threatening syndrome caused by SPINK5 mutations leading to a skin barrier defect and a severe atopic diathesis. NS patients are prone to bacterial infections, but the understanding of the underlying immune deficiency is incomplete.

resultsWe analyzed blood lymphocyte phenotypes and function in relation to clinical infections in 11 Finnish NS patients, aged 3 to 17 years, and healthy age-matched controls. The proportion of B cells (CD19

conclusionsThis study shows novel quantitative and functional aberrations in several lymphocyte subpopulations, which correlate with the frequency of infections in patients with Netherton syndrome. IVIG therapy normalized some dysbalancies and was clinically beneficial.

Indexed as

AdolescentB-LymphocytesCD4-Positive T-LymphocytesCD57 AntigensCD8-Positive T-LymphocytesCell DifferentiationChildChild, PreschoolHumansKiller Cells, NaturalNetherton SyndromeTumor Necrosis Factor Receptor Superfamily, Member 7CD57 AntigensTumor Necrosis Factor Receptor Superfamily, Member 7B cellCytokineCytotoxicityImmunoglobulin therapyNetherton syndromeNK cellT cell

Identifiers

PMID30477583
PMCPMC6258305
OpenAlexW2902509010

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.