Evidence map›Paper›PMID 40352335›Full record

ArticleSaudi journal of medicine & medical sciences

Hyperimmunoglobulinemia D Syndrome Masquerading as Familial Mediterranean Fever, Hidradenitis Suppurativa, and Crohn's Disease: A Case Report.

Mohamed Juraij, Farah Barakat, Zainab Ifthikar, Fahad Alsohaibani

Abstract readCase Reports
In one paragraph

Article in Saudi journal of medicine & medical sciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

4 authors.

Mohamed JuraijDepartment of Medicine, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Farah BarakatDepartment of Medicine, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Zainab IfthikarDepartment of Medicine, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Fahad AlsohaibaniDepartment of Medicine, Section of Gastroenterology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a rare case of hyperimmunoglobulinemia D syndrome (HIDS) in a young man who was initially diagnosed with familial Mediterranean fever, hidradenitis suppurativa, and, eventually, with Crohn's disease. The final diagnosis of HIDS was based on whole-exome sequencing. The unique concurrence of these three conditions has not been reported previously. The multiple diagnoses and overlapping presentations of these conditions should raise awareness about alternative diagnoses that mimic inflammatory and autoimmune conditions, including HIDS, a rare but clinically relevant condition. Exploring patients' family histories to understand the genetic contribution to HIDS is also important. This is evidenced by the fact that whole-exome sequencing for our patient was performed because the patient's brother was diagnosed with HIDS, and the sequencing led to the final diagnosis.

Indexed as

Autoinflammatory disordersCrohn’s diseasefamilial Mediterranean feverhidradenitis suppurativaHyper-IgD syndromemevalonate kinase deficiency

Identifiers

PMID40352335
PMCPMC12063963

What OpenQuestion holds

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LicenceCC BY-NC-SA
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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.