Evidence map›Paper›PMID 42170591›Full record

ArticleJournal of human immunity2026

Mendelian susceptibility to mycobacterial disease: Clinical, immunological, and genetic study in India.

Aparna Dalvi, Lavina Temkar, Mukesh Desai, Swati Garg, Jahnavi Aluri, Gouri Hule, Umair Ahmed Bargir, Priyanka Setia, Priyanka Kambli, Amruta Dhawale and 17 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. 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

27 authors.

Aparna DalviIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0009-0007-6972-6474
Lavina TemkarIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0000-0002-3448-5638
Mukesh DesaiDivision of Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India.ORCID https://orcid.org/0000-0002-9253-7934
Swati GargIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0000-0002-3719-4342
Jahnavi AluriIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0000-0002-0350-1439
Gouri HuleIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0000-0003-0558-743X
Umair Ahmed BargirIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0000-0001-6785-8042
Priyanka SetiaIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0000-0003-0985-0303
Priyanka KambliIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0000-0001-5713-9482
Amruta DhawaleIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0000-0002-8755-9426
Parag TamhankarCentre for Medical Genetics, Mulund, India.ORCID https://orcid.org/0000-0003-3584-2382
Reetika Malik YadavIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0000-0002-5030-0437
Sagar BhattadFoundation for Primary Immunodeficiency Diseases Centre of Excellence for Diagnosis and Management of Primary Immune Deficiencies at Aster Group of Hospitals, Bangalore, India.ORCID https://orcid.org/0000-0002-5048-9727
Meena SivasankaranDepartment of Pediatric Hemato-Oncology, Kanchi Kamakoti Childs Trust Hospital, Chennai, India.ORCID https://orcid.org/0000-0001-5759-125X
Harsha Prasad LashkariKasturba Medical College, Mangalore, India.ORCID https://orcid.org/0000-0002-6398-6546
Asruti KachaDepartment of Pediatrics, Government Medical College, Vadodara, India.ORCID https://orcid.org/0009-0000-4636-9469
T Kasi BharathiViswabharati Medical College, General and Cancer Hospital, Kurnool, India.ORCID https://orcid.org/0000-0001-7526-9571
Swati KanakiaLilawati Hospital and Research Centre, Mumbai, India.ORCID https://orcid.org/0009-0002-1424-5634
Kamana Arun GandhiFellowship Course in Pediatric Infectious Diseases, Gujarat, India.ORCID https://orcid.org/0009-0005-6105-9190
Shraddha ShelarIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0009-0001-1475-3770
Shweta ShindeIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0009-0003-7012-7605
Neha JodhawatIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0000-0002-7752-3956
Ramesh KawaleIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0009-0004-1049-4638
Nitin SalveIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0009-0002-6269-2869
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, USA.ORCID https://orcid.org/0000-0002-7782-4169
Jacinta BustamanteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY, USA.ORCID https://orcid.org/0000-0002-3439-2482
Manisha R MadkaikarIndian Council of Medical Research National Institute of Immunohaematology, Parel, India.ORCID https://orcid.org/0000-0001-6380-3116

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome characterized by increased and selective susceptibility to weakly virulent mycobacteria and other intramacrophagic pathogens. This study emphasizes the utility of immunological and functional assays in diagnosing MSMD by analyzing clinical, immunological, and genetic features in 50 Indian patients. Immunological workup included lymphocyte subset analysis, nitroblue tetrazolium test (NBT), and flow cytometric assessment of IFN-γR1 (CD119), IL-12Rβ1 (CD212), and phosphorylated STAT1/STAT4 following cytokine stimulation. Functional assays measured IFN-γ and IL-12p70 production. Genetic evaluation was performed using whole-exome or Sanger sequencing. The median age at onset was 3 mo. BCG complications were the most common presentation (96%), while 4% had non-tuberculous mycobacterial infections. Additional infections included

Identifiers

PMID42170591
PMCPMC13177713

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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.