The DOI matches its Crossref record, with a small difference in title or year; 49 of the 50 references it cites were found in a registry or an index.
When less is more: primary immunodeficiency with an autoinflammatory kick
Open accessAbstract
PURPOSE OF REVIEW: Next-generation sequencing is revolutionizing the molecular taxonomy of human disease. Recent studies of patients with unexplained autoinflammatory disorders reveal germline genetic mutations that target important regulators of innate immunity. RECENT FINDINGS: Whole-exome analyses of previously undiagnosed patients have catalyzed the recognition of two new disease genes. First, a phenotypic spectrum, including livedo racemosa, fever with early-onset stroke, polyarteritis nodosa, and Sneddon syndrome, is caused by loss-of-function mutations in cat eye syndrome chromosome region, candidate 1 (CECR1), encoding adenosine deaminase 2. Adenosine deaminase 2 is a secreted protein expressed primarily in myeloid cells, and a regulator of macrophage differentiation and endothelial development. Disease-associated mutations impair anti-inflammatory M2 macrophage differentiation. Second, patients presenting with cold-induced urticaria, granulomatous rash, autoantibodies, and common variable immunodeficiency, or with blistering skin lesions, bronchiolitis, enterocolitis, ocular inflammation, and mild immunodeficiency harbor distinct mutations in phospholipase Cγ₂, encoding a signaling molecule expressed in natural killer cells, mast cells, and B lymphocytes. These mutations inhibit the function of a phospholipase Cγ₂ autoinhibitory domain, causing increased or constitutive signaling. SUMMARY: These findings underscore the power of next-generation sequencing, demonstrating how the primary deficiency of key molecular regulators or even regulatory motifs may lead to autoinflammation, and suggesting a possible role for cat eye syndrome chromosome region, candidate 1 and phospholipase Cγ₂ in common diseases.
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“Patients with PLAID typically exhibit symptoms of cold urticaria, a form of cold temperature-induced hives, beginning in infancy, but otherwise shares many of the common clinical manifestations of CVID such as granulomatous disease, allergy, autoimmune disease, and an abnormally low concentration of serum IgG with recurrent infections (63, 66).”
From The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration (2021) · cites this paper as [66]
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The Inflammasomes: Guardians of the Body
Martinon, F., Mayor, A., & Tschopp, J. (2009) · Annual Review of Immunology · doi:10.1146/annurev.immunol.021908.132715 · Cited by 2,436
Hoffman, H. M., Mueller, J. L., Broide, D. H., Wanderer, A. A., & Kolodner, R. D. (2001) · Nature Genetics · doi:10.1038/ng756 · Cited by 1,679
The International FMF Consortium (1997) · Cell · doi:10.1016/s0092-8674(00)80539-5 · Cited by 1,550
A candidate gene for familial Mediterranean fever
Bernot, A., Clépet, C., Silva, C. D., Devaud, C., Petit, J., Caloustian, C., Cruaud, C., Samson, D. S., Pulcini, F., Weissenbach, J., et al. (1997) · Nature Genetics · doi:10.1038/ng0997-25 · Cited by 1,547
Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor
Glocker, E., Kotlarz, D., Boztuǧ, K., Gertz, E. M., Schäffer, A. A., Noyan, F., Perro, M., Diestelhorst, J., Saborowski, A. L., Murugan, D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0907206 · Cited by 1,452
Activated STING in a Vascular and Pulmonary Syndrome
Liu, Y., de Jesus, A. A., Marrero, B., Yang, D., RAMSEY, S. E., Sanchez, G. A. M., Tenbrock, K., Wittkowski, H., Jones, O. Y., Kuehn, H. S., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1312625 · Cited by 1,415
Self-citationMcDermott, M., Aksentijevich, I. A., Galon, J., McDermott, E. M., Ogunkolade, B.-W., Centola, M. B., Mansfield, E. A., Gadina, M., Karenko, L., Pettersson, T., et al. (1999) · Cell · doi:10.1016/s0092-8674(00)80721-7 · Cited by 1,404
Self-citationHorror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease
Masters, S. L., Simon, A., Aksentijevich, I. A., & Kastner, D. L. (2009) · Annual Review of Immunology · doi:10.1146/annurev.immunol.25.022106.141627 · Cited by 1,083
Self-citationThe calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP
Lee, G., Subramanian, N., Kim, A. I., Aksentijevich, I. A., Goldbach‐Mansky, R. T., Sacks, D. B., Germain, R. N., Kastner, D. L., & Chae, J. J. (2012) · Nature · doi:10.1038/nature11588 · Cited by 1,077
Self-citationInterleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Marrakchi, S., Guigue, P., Renshaw, B. R., Puel, A., Pei, X.-Y., Fraitag, S., Zribi, J., Bal, É., Cluzeau, C. V. M., Chrabieh, M., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1013068 · Cited by 996
Flagged first, then by citations
1 of the 50 references couldn’t be matched to a known paper.
Research works printed but not linked: 3
- Van Eyck, 2014, Mutant ADA2 in vasculopathies., N Engl J Med, 371, 478, 10.1056/NEJMc1405506 · DOI
- Bras, 2014, Mutant ADA2 in vasculopathies., N Engl J Med, 371, 479
- Van Eyck, 2014, Mutant ADA2 in vasculopathies., N Engl J Med, 371, 480
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Hashem, H., Kumar, A. R., Müller, I., Babor, F., Bredius, R. G. M., Dalal, J. D., Hsu, A. P., Holland, S. M., Hickstein, D. D., Jolles, S. R. A., et al. (2017) · Blood · doi:10.1182/blood-2017-07-798660 · Cited by 188
Monogenic polyarteritis: the lesson of ADA2 deficiency
Caorsi, R., Penco, F., Schena, F., & Gattorno, M. (2016) · Pediatric Rheumatology · doi:10.1186/s12969-016-0111-7 · Cited by 127
Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells
Kaljas, Y., Liu, C., Skaldin, M., Wu, C., Zhou, Q., Lu, Y., Aksentijevich, I. A., & Zavialov, A. V. (2016) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-016-2357-0 · Cited by 127
Self-citationExtending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency
Ben‐Ami, T., Revel‐Vilk, S., Brooks, R. A., Shaag, A., Hershfield, M. S., Kelly, S. J., Ganson, N. J., Kfir‐Erenfeld, S., Weintraub, M., Elpeleg, O. N., et al. (2016) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2016.06.058 · Cited by 114
Tervaert, J. W. C. (2018) · Autoimmunity Reviews · doi:10.1016/j.autrev.2018.07.003 · Cited by 113
Metadata
- Authors
- Giannelou, A., Zhou, Q., & Kastner, D. L.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Giannelou, Angeliki
- Venue
- Current Opinion in Allergy & Clinical Immunology
- Published
- 2014-12
- Volume
- 14
- Issue
- 6
- Pages
- 491-500
- ISSN
- 1473-6322 (ISSN-L)
- 1528-4050
- PMC
- PMC4212813
- OpenAlex
- W2023021099
- Cited by
- 34
- References
- 50
- Citations by year
- 2026: 1 · 2025: 3 · 2023: 1 · 2022: 1 · 2021: 2 · 2020: 2 · 2019: 6 · 2018: 6 · 2017: 1 · 2016: 7 · 2015: 4
- FWCI
- 0.39
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- cc-by-nc-nd
- Locations
- Current Opinion in Allergy and Clinical Immunology (publishedVersion)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Human Genome Research Institute
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Inflammasome and immune disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- autoinflammatory disease, CECR1, ADA2, PLCγ2, germline mutations, innate immunity, M2 macrophage differentiation, cold-induced urticaria, common variable immunodeficiency, Sneddon syndrome, polyarteritis nodosa, livedo racemosa, autoinhibitory domain
- MeSH terms
- Adenosine Deaminase, Autoimmune Diseases, Humans, Mutation, Common Variable Immunodeficiency, Intercellular Signaling Peptides and Proteins, Phospholipase C gamma, Genome-Wide Association Study
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