A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases
Open accessAbstract
We report three new cases of a germline heterozygous gain-of-function missense (p.(Met1141Lys)) mutation in the C2 domain of phospholipase C gamma 2 (PLCG2) associated with symptoms consistent with previously described auto-inflammation and phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) syndrome and pediatric common variable immunodeficiency (CVID). Functional evaluation showed platelet hyper-reactivity, increased B cell receptor-triggered calcium influx and ERK phosphorylation. Expression of the altered p.(Met1141Lys) variant in a PLCγ2-knockout DT40 cell line showed clearly enhanced BCR-triggered influx of external calcium when compared to control-transfected cells. Our results further expand the molecular basis of pediatric CVID and phenotypic spectrum of PLCγ2-related defects.
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Some defects described for peripheral cells of certain patients with APLAID mutations more closely resembled those observed in PLCγ2-deficient mice.
“some defects described for peripheral cells of certain patients with APLAID mutations, more closely resembled those observed in PLCγ2-deficient mice [101]”
From TREM2/PLCγ2 signalling in immune cells: function, structural insight, and potential therapeutic modulation (2021) · cites this paper as [101]
The Discussion (page unavailable) says the B-cell defects of patient #3 resembled those in PLCγ2-deficient mice. It describes that patient’s presentation as more consistent with pediatric CVID, however, and does not make the comparison for multiple patients with APLAID presentations or for peripheral-cell defects generally. (LLM, conf=0.85)
Experimental — accuracy not yet measuredA significant gain of function of PLCγ2 can lead to deleterious impacts on the immune system.
“These clearly indicate that a significant gain of function of PLCγ2 can lead to deleterious impacts on the immune system.”
From Heterozygous expression of the Alzheimer’s disease-protective PLCγ2 P522R variant enhances Aβ clearance while preserving synapses (2022) · cites this paper as [29]
About 75% of mutations in PLCG2 previously implicated in various inflammatory diseases map to the autoinhibitory interface on the PLCγ2 model structure and can be considered pathogenic.
“A number of mutations in PLCG2 (about 75%), that have been previously implicated in various inflammatory diseases [92–102], actually map to the autoinhibitory interface on the PLCγ2 model structure and can be considered as pathogenic (Fig. 2c)”
From TREM2/PLCγ2 signalling in immune cells: function, structural insight, and potential therapeutic modulation (2021) · cites this paper as [101]
There are no reported cases of humans with PLCγ2 deficiency.
“Although there are no reported cases of humans with PLCγ2 deficiency [101]”
From TREM2/PLCγ2 signalling in immune cells: function, structural insight, and potential therapeutic modulation (2021) · cites this paper as [101]
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Jamee, M., Al-Gaweesh, R. M., Hajialigol, A., Mohammed, S. G., Tirandazi, P., .Alangari, A. A., & El-Owaidy, R. H. (2026) · Frontiers in Allergy · doi:10.3389/falgy.2026.1867183
- Authors
- Novice, T., Kariminia, A., Del Bel, K. L., Lu, H., Sharma, M., Lim, C. J., Read, J., Lugt, M. V., Hannibal, M. C., O’Dwyer, D., Hosler, M., Scharnitz, T., Rizzo, J. M., Zacur, J., Priatel, J., Abdossamadi, S., Bohm, A., Junker, A., Turvey, S. E., Schultz, K. R., & Rozmus, J.
- Affiliations
- University of Michigan (US)
- BC Children's Hospital Research Institute (CA)
- University of British Columbia (CA)
- Corresponding author
- Rozmus, Jacob
- ORCID
- Venue
- Journal of Clinical Immunology
- Published
- 2019-12-19
- Volume
- 40
- Issue
- 2
- Pages
- 267-276
- ISSN
- 0271-9142 (ISSN-L)
- 1573-2592
- PMC
- PMC7086538
- OpenAlex
- W2996427812
- Cited by
- 44
- References
- 38
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 7 · 2023: 8 · 2022: 8 · 2021: 9 · 2020: 4
- FWCI
- 2.10
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Journal of Clinical Immunology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Canadian Child Health Clinician Scientist Program
- Rare Disease Foundation
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Life Sciences › Immunology and Microbiology › Immunology › T-cell and B-cell Immunology
- Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
- Keywords
- PLCγ2, C2 domain, germline missense mutation, gain-of-function mutations, autoinflammatory disease, common variable immunodeficiency, platelet hyperreactivity, B cell receptor signaling, calcium influx, ERK1/2 phosphorylation, phenotypic spectrum
- MeSH terms
- Protein Domains, B-Lymphocytes, Cell Line, Child, Child, Preschool, Female, Humans, Immunologic Deficiency Syndromes, Infant, Male, Phenotype, Autoimmunity, Common Variable Immunodeficiency, Germ-Line Mutation, Calcium Signaling, Mutation, Missense, Phospholipase C gamma
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