Evidence map›Paper›PMID 38410820›Full record

ArticleClinical & translational immunology2024

Phenotypic spectrum in a family with a novel

Louisa Ashby, Lydia Chan, Christine Winterbourn, See-Tarn Woon, Paula Keating, Raoul Heller, Rohan Ameratunga, Ignatius Chua, Kuang-Chih Hsiao

Open access · goldAbstract readCase Reports
In one paragraph

Article in Clinical & translational immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 97% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

9 authors at 6 institutions in 1 country.

Louisa AshbyMātai Hāora - Centre for Redox Biology and Medicine, Department of Pathology and Biomedical Science University of Otago Christchurch Christchurch New Zealand.
Lydia ChanDepartment of Clinical Immunology Auckland City Hospital Auckland New Zealand.
Christine WinterbournMātai Hāora - Centre for Redox Biology and Medicine, Department of Pathology and Biomedical Science University of Otago Christchurch Christchurch New Zealand.
See-Tarn WoonLabPLUS Te Toka Tumai, Te Whatu Ora Auckland New Zealand.
Paula KeatingCanterbury Health Laboratories Te Whatu Ora Christchurch New Zealand.
Raoul HellerGenetic Health Service NZ - Northern Hub, Te Toka Tumai Auckland New Zealand.
Rohan AmeratungaDepartment of Clinical Immunology Auckland City Hospital Auckland New Zealand.
Ignatius ChuaCanterbury Health Laboratories Te Whatu Ora Christchurch New Zealand.
Kuang-Chih HsiaoStarship Child Health Te Whatu Ora Auckland New Zealand.ORCID https://orcid.org/0000-0001-7412-9761
Auckland City Hospital · NZUniversity of Otago · NZCanterbury Health Laboratories · NZChristchurch Hospital · NZNew Zealand Christians in Science · NZUniversity of Auckland · NZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Dominant-activating (DA) lesions in Methods: Clinical and immunological information was collated for seven living individuals from the same kindred with Results: Patient 1 (P1, aged 11, male) has a history of bacterial suppurative otitis media, viral and bacterial cutaneous infections. P1's siblings (P2, P3), mother (P4), maternal aunt (P5) and uncle (P6) have similar infection histories. P1's maternal cousin (P7) presented with Burkitt's lymphoma at age 9. All affected individuals are alive and none has required HSCT to date. They have chronic lymphopenia affecting the CD4 Conclusion:

Indexed as

combined immunodeficiencydominant‐activating mutationphenotypic spectrumRAC2

Identifiers

PMID38410820
PMCPMC10895683
OpenAlexW4392163232

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.