Evidence map›Paper›PMID 39649299›Full record

ArticleIndian journal of nephrology

Secondary Membranous Nephropathy and Immunodeficiency due to a Novel Biallelic Variant in

Lakshmi Priya Rao, Vishaka Kothiwale, Periyasamy Radhakrishnan, Dharshan Rangaswamy, Anju Shukla, Vivekananda Bhat

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PubMed Full text at PMC Publisher
In one paragraph

Article in Indian journal of nephrology. 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
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.

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

6 authors.

Lakshmi Priya RaoDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Vishaka KothiwaleDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Periyasamy RadhakrishnanDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Dharshan RangaswamyDepartment of Nephrology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Anju ShuklaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Vivekananda BhatDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The cytosolic capping protein, Arp2/3 and myosin-I linker protein 2 or CARMIL2 plays an important role in T/B/NK cell function. Biallelic disease causing variants in CARMIL2 are known to cause immunodeficiency 58. We report a 13-year-old girl with recurrent infections, dermatitis and nephrotic syndrome since childhood. Her renal biopsy was suggestive of membranous nephropathy. Exome sequencing showed a homozygous novel stopgain variant, c.520C>T in CARMIL2 (NM_001013838.3). We expand the phenotypic spectrum of CARMIL2 related immunodeficiency to include membranous nephropathy secondary to probable immune dysregulation.

Indexed as

Autoimmune hemolytic anemiaExome sequencingImmune dysregulationImmunodeficiency 58Nonsense variant

Identifiers

PMID39649299
PMCPMC11619058

What OpenQuestion holds

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Registered trials

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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.