Evidence map›Paper›PMID 41623352›Full record

ArticleJournal of human immunity2026

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease.

Qinhua Zhou, Ivan Bagarić, Fabian Komma, Chandhana Prakash, Hassan Abolhassani, Zahra Chavoshzadeh, Lulu Tsao, Taja Vatovec, Camille Soudée, Jérémie Rosain and 13 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of human immunity, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

23 authors.

Qinhua ZhouDepartment of Clinical Immunology, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, China.ORCID https://orcid.org/0000-0002-5112-3727
Ivan Bagarić *Gene Center and Department of Biochemistry, Ludwig-Maximilians-Universität, Munich, Germany.ORCID https://orcid.org/0009-0002-8724-9126
Fabian Komma *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0001-7477-7726
Chandhana Prakash *Gene Center and Department of Biochemistry, Ludwig-Maximilians-Universität, Munich, Germany.ORCID https://orcid.org/0000-0002-7842-7165
Hassan Abolhassani *Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0002-4838-0407
Zahra Chavoshzadeh *Department of Immunology and Allergy, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Immunology and Allergy Department, Tehran, Iran.ORCID https://orcid.org/0000-0003-1869-8630
Lulu Tsao *Division of Pulmonary, Department of Medicine, Critical Care, Allergy and Sleep Medicine, University of California San Francisco Medical Center, San Francisco, CA, USA.ORCID https://orcid.org/0000-0002-4608-0064
Taja VatovecGene Center and Department of Biochemistry, Ludwig-Maximilians-Universität, Munich, Germany.ORCID https://orcid.org/0009-0009-1249-1832
Camille SoudéeImagine Institute, Paris Cité University, Paris, France.ORCID https://orcid.org/0009-0002-1445-7223
Jérémie RosainImagine Institute, Paris Cité University, Paris, France.ORCID https://orcid.org/0000-0002-2822-161X
Daniel J MinterDivision of Infectious Diseases, Department of Medicine, University of California San Francisco, San Francisco, CA, USA.ORCID https://orcid.org/0000-0002-4487-934X
Conny LuDivision of Allergy, Department of Pediatrics, Immunology and Bone Marrow Transplant, University of California San Francisco, USA.ORCID https://orcid.org/0009-0009-6565-9838
Nashat Al-SukaitiDepartment of Pediatrics, Pediatric Allergy and Clinical Immunology, The Royal Hospital, Muscat, Oman.ORCID https://orcid.org/0000-0001-7889-2887
Bingbing WuNational Children's Medical Center, Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.ORCID https://orcid.org/0000-0001-9269-4414
Jinqiao SunDepartment of Clinical Immunology, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, China.ORCID https://orcid.org/0000-0001-9125-8581
Qian ZhangImagine Institute, Paris Cité University, Paris, France.ORCID https://orcid.org/0000-0002-9040-3289
Jean-Laurent CasanovaImagine Institute, Paris Cité University, Paris, France.ORCID https://orcid.org/0000-0002-7782-4169
Qiang Pan-Hammarström *Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0003-1990-8804
Alice Y Chan *Division of Allergy, Department of Pediatrics, Immunology and Bone Marrow Transplant, University of California San Francisco, USA.ORCID https://orcid.org/0000-0003-1466-7044
Tariq Al-Farsi *Division of Infectious Diseases, Department of Medicine, University of California San Francisco, San Francisco, CA, USA.ORCID https://orcid.org/0009-0008-1737-606X
Xiaochuan Wang *Department of Clinical Immunology, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, China.ORCID https://orcid.org/0000-0003-3768-324X
Jacinta Bustamante *Imagine Institute, Paris Cité University, Paris, France.ORCID https://orcid.org/0000-0002-3439-2482
Jonathan Bohlen *Gene Center and Department of Biochemistry, Ludwig-Maximilians-Universität, Munich, Germany.ORCID https://orcid.org/0000-0003-0458-9484

Funding

Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
Genome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5M
NCATS NIH HHS UL1 TR001866NIAID NIH HHS R01 AI095983
6 · The paper itself

Abstract

X-linked recessive (XR) complete MCTS1 deficiency underlies Mendelian susceptibility to mycobacterial disease (MSMD) in patients with bacille Calmette-Guérin (BCG) disease. We investigated the genotypic and phenotypic landscape of four new unrelated families from four distinct countries. Three patients had adverse reactions to the BCG vaccine, whereas another patient was not vaccinated with BCG and had an infection with

Identifiers

PMID41623352
PMCPMC12857535

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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.