Evidence map›Paper›PMID 26277595›Full record

ReviewThe Journal of allergy and clinical immunology2015

Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity.

Rebeca Pérez de Diego, Silvia Sánchez-Ramón, Eduardo López-Collazo, Rubén Martínez-Barricarte, Carolina Cubillos-Zapata, Antonio Ferreira Cerdán, Jean-Laurent Casanova, Anne Puel

Open access · greenAbstract readReview
In one paragraph

Review in The Journal of allergy and clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed
3.9field-weighted citation impact, top 6% 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

41 citing papers in PubMed, 58 citations in OpenAlex.

  1. A novel linker region truncating variant in BCL10 underlies a leaky immunodeficiency phenotype.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026
    Article
  2. Article
  3. Article
  4. Review
  5. The role of SARS-CoV-2-mediated NF-κB activation in COVID-19 patients.Hypertension research : official journal of the Japanese Society of Hypertension · 2024
    Review
  6. Article
  7. CARD9 Signaling, Inflammation, and Diseases.Frontiers in immunology · 2022
    Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Lessons learned from the study of human inborn errors of innate immunity.The Journal of allergy and clinical immunology · 2019
    Review
  20. Article
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

8 authors at 5 institutions in 3 countries.

Rebeca Pérez de DiegoLaboratory of Immunogenetics of Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain. Electronic address: rebeca.perez@idipaz.es.
Silvia Sánchez-RamónClinical Immunology Department, San Carlos Clinical Hospital, Madrid, Spain.
Eduardo López-CollazoInnate Immunity Group, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain; Laboratory of Tumor Immunology, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain.
Rubén Martínez-BarricarteSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.
Carolina Cubillos-ZapataInnate Immunity Group, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain; Laboratory of Tumor Immunology, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain.
Antonio Ferreira CerdánImmunology Unit, La Paz University Hospital, Madrid, Spain.
Jean-Laurent CasanovaSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Howard Hughes Medical Institute, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University Paris Descartes, Imagine Institute, Paris, France; Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.
Anne PuelSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University Paris Descartes, Imagine Institute, Paris, France.
Hospital La Paz Institute for Health Research · ESRockefeller University · USHospital Clínico San Carlos · ESHospital Universitario La Paz · ESUniversité Paris Cité · FR

Funding

Regulation of IgA class switching in the intestinal mucosaP01AI061093 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2004 to 2021
$29.8M
Transforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8M
Monogenic basis of resistance to SARS-CoV2 and predisposition to severe COVID-19R01AI088364 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$8.7M
A genetic dissection of Mendelian susceptibility to mycobacterial diseases (MSMD)R01AI089970 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2010 to 2014
$2.5M
Howard Hughes Medical InstituteNCATS NIH HHS 8 UL1 TR000043NCATS NIH HHS UL1 TR000043NIAID NIH HHS P01 AI061093NIAID NIH HHS R01 AI088364NIAID NIH HHS R01 AI089970
6 · The paper itself

Abstract

Three members of the caspase recruitment domain (CARD) family of adaptors (CARD9, CARD10, and CARD11) are known to form heterotrimers with B-cell lymphoma 10 (BCL10) and mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (MALT1). These 3 CARD-BCL10-MALT1 (CBM) complexes activate nuclear factor κB in both the innate and adaptive arms of immunity. Human inherited defects of the 3 components of the CBM complex, including the 2 adaptors CARD9 and CARD11 and the 2 core components BCL10 and MALT1, have recently been reported. Biallelic loss-of-function mutant alleles underlie several different immunologic and clinical phenotypes, which can be assigned to 2 distinct categories. Isolated invasive fungal infections of unclear cellular basis are associated with CARD9 deficiency, whereas a broad range of clinical manifestations, including those characteristic of T- and B-lymphocyte defects, are associated with CARD11, MALT1, and BCL10 deficiencies. Interestingly, human subjects with these mutations have some features in common with the corresponding knockout mice, but other features are different between human subjects and mice. Moreover, germline and somatic gain-of-function mutations of MALT1, BCL10, and CARD11 have also been found in patients with other lymphoproliferative disorders. This broad range of germline and somatic CBM lesions, including loss-of-function and gain-of-function mutations, highlights the contribution of each of the components of the CBM complex to human immunity.

Indexed as

Adaptive ImmunityAdaptor Proteins, Signal TransducingAnimalsB-Cell CLL-Lymphoma 10 ProteinCARD Signaling Adaptor ProteinsCaspasesGenetic Predisposition to DiseaseGuanylate CyclaseHumansImmunity, InnateImmunologic Deficiency SyndromesMiceMice, KnockoutMucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 ProteinMutationMycosesAdaptor Proteins, Signal TransducingB-Cell CLL-Lymphoma 10 ProteinBCL10 protein, humanCARD10 protein, humanCARD11 protein, humanCARD9 protein, humanCARD Signaling Adaptor ProteinsCaspasesGuanylate CyclaseMALT1 protein, humanMucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 ProteinNeoplasm ProteinsB-cell lymphoma 10CARMA1caspase recruitment domain 9combined immunodeficiencymucosa-associated lymphoid tissue lymphoma-translocation gene 1Primary immunodeficiency

Identifiers

PMID26277595
PMCPMC4894862
OpenAlexW1907842654

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.