Evidence map›Paper›PMID 32342551›Full record

ArticlePediatric dermatology2020

CARMIL2-related immunodeficiency manifesting with photosensitivity.

Leila H Shayegan, Maria C Garzon, Kimberly D Morel, Rachel Borlack, Patricia M Vuguin, Kara G Margolis, Yesim Y Demirdag, Elaine M Pereira, Christine T Lauren

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatric dermatology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 38% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report.Endocrine, metabolic & immune disorders drug targets · 2024
    Article
  3. Article
  4. Article
  5. 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

9 authors at 2 institutions in 1 country.

Leila H ShayeganVagelos College of Physicians and Surgeons, Columbia University, New York, New York.ORCID https://orcid.org/0000-0002-9516-8863
Maria C GarzonDepartments of Dermatology and Pediatrics, Columbia University Irving Medical Center, New York, New York.
Kimberly D MorelDepartments of Dermatology and Pediatrics, Columbia University Irving Medical Center, New York, New York.ORCID http://orcid.org/0000-0003-0646-8192
Rachel BorlackDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.
Patricia M VuguinDivision of Pediatric Endocrinology, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.ORCID https://orcid.org/0000-0002-4982-0400
Kara G MargolisDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.ORCID https://orcid.org/0000-0002-5795-0758
Yesim Y DemirdagDivision of Pediatric Allergy and Immunology, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.ORCID https://orcid.org/0000-0003-0625-9374
Elaine M PereiraDivision of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.
Christine T LaurenDepartments of Dermatology and Pediatrics, Columbia University Irving Medical Center, New York, New York.ORCID https://orcid.org/0000-0002-7278-4831
Columbia University Irving Medical Center · USColumbia University · US

Funding

MICROENVIRONMENT IN ENTERIC NEURON DEVELOPMENTR01NS015547 · NINDS · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI GERSHON, MICHAEL D, MARGOLIS, KARA GROSS · 1985 to 2022
$7.2M
Linkage of s100a10 (p11) to enteric 5-HT4-mediated serotonergic signaling roles in GI motility, enteric nervous system development, and co-morbid dysfunction of gut and brainR01DK126644 · NIDDK · NEW YORK UNIVERSITY · PI MARGOLIS, KARA GROSS · 2021 to 2024
$1.9M
NIDDK NIH HHS R01 DK126644NINDS NIH HHS R01 NS015547
6 · The paper itself

Abstract

We report a case of a newly recognized primary immunodeficiency due to biallelic mutations in CARMIL2 manifesting as an actinic prurigo-like photodermatitis, allergic diathesis and recurrent infections in a child. We present this case to highlight a rare phenotype seen in this T-cell immunodeficiency and provide an overview of other dermatologic manifestations among published reports of this condition.

Indexed as

Immunologic Deficiency SyndromesPhotosensitivity DisordersPrurigoSkin Diseases, GeneticChildHumanseczemagenodermatosesimmunodeficiency

Identifiers

PMID32342551
PMCPMC7599087
OpenAlexW3018464942

What OpenQuestion holds

Textmetadata
LicenceTDM
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.