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A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency
Open accessAbstract
Severe combined immunodeficiencies (SCIDs) constitute a heterogeneous group of life-threatening genetic disorders that typically present in the first year of life. They are defined by the absence of autologous T cells and the presence of an intrinsic or extrinsic defect in the B-cell compartment. In three newborns presenting with frequent infections and profound leukopenia, we identified a private, heterozygous mutation in the RAC2 gene (p.G12R). This mutation was de novo in the index case, who had been cured by hematopoietic stem cell transplantation but had transmitted the mutation to her sick daughter. Biochemical assays showed that the mutation was associated with a gain of function. The results of in vitro differentiation assays showed that RAC2 is essential for the survival and differentiation of hematopoietic stem/progenitor cells. Therefore, screening for RAC2 gain-of-function mutations should be considered in patients with a SCID phenotype and who lack a molecular diagnosis.
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TL;DR
A heterozygous gain-of-function RAC2 p.G12R mutation was identified in three patients with severe combined immunodeficiency and bone-marrow hypoplasia, inherited in an autosomal dominant pattern. Biochemical and in vitro HSPC assays showed increased active GTP-bound RAC2 and impaired survival/differentiation, linking the mutation to disease.
Key findings
- In three patients from two unrelated kindreds (P1; mother and daughter P2/P3) with a reticular dysgenesis-like SCID phenotype but no deafness, the authors identified a heterozygous c.34G>A, p.G12R mutation in RAC2; it was de novo in the index case and transmitted to her daughter, indicating autosomal dominant inheritance. Patients lacked neutrophils, T and B lymphocytes, and circulating monocytes, with severe bone-marrow hypoplasia; TREC was <5 copies/mL in P3 versus >34 copies for a control.
- The mutation was associated with gain of function: in HEK293T cells, G-LISA showed high levels of active GTP-bound RAC2 for G12R and the positive control G12V, while RAC2 protein expression was not substantially altered in patient fibroblasts.
- Patient fibroblasts showed slower proliferation and higher death; mitochondrial networks were fragmented in 35% of P3 fibroblasts versus 10% of controls, and nuclear membranes were highly segmented.
- CD34+ cord blood HSPC transduced with G12R or G12V showed disappearance of GFP+ cells within 4 days, impaired ROS production, mitochondrial membrane depolarization, increased apoptosis, and severely reduced neutrophil and T-cell differentiation; HSCT was successful in P1 and P2 with full donor immune reconstitution at 12 and 21 years after transplant, respectively.
Methods
- Case-based genetic and functional study of three patients from two unrelated kindreds, using primary patient fibroblasts, human cord blood CD34+ HSPC, and HEK293T cells; informed consent and ethics approvals are reported.
- Whole-exome sequencing was performed on patient fibroblasts (the Results text says whole-genome sequencing), with Sanger confirmation; the variant was absent from an in-house database of n=14,154 samples and gnomAD and was predicted deleterious by four in silico tools.
- Functional analyses included RAC2 activation G-LISA, immunoblotting, homology modeling, live-cell imaging, and in vitro HSPC differentiation toward granulocyte, monocyte, and T-lymphoid lineages; statistics used two-tailed unpaired t-tests with P<0.05 and three or more independent experiments.
Limitations
- Stated: no patient bone-marrow samples were available, so CD34+ human cord blood HSPC were used; the RAC2 signaling pathways targeted by G12R are not reported here; some data are limited (TREC tested only in P3, DNA from only P3’s father, and ROS inducer data not shown).
- Evident: the patient sample is very small (n=3), with no independent validation cohort; most functional evidence comes from in vitro or heterologous systems rather than an in vivo model or direct rescue experiment.
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In the paper
“In three newborns presenting with frequent infections and profound leukopenia, we identified a private, heterozygous mutation in the RAC2 gene (p.G12R).”
§ A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency > Abstract
plain- Asserted: passes — The authors put it forward as true.
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In the paper
“Biochemical assays showed that the mutation was associated with a gain of function.”
- Also stated in: § G12R mutation in the GDP/GTP-binding domain disrupts cell homeostasis · boosted
“A high level of the active GTPbound RAC2 state was observed for both G12V and G12R (Figure 1E), demonstrating that substitution by arginine at position 12 increases the level of active RAC2 protein; hence, the G12R mutation is associated with GOF.”
§ A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency > Abstract
boostedstates an association- Asserted: passes — The authors put it forward as true.
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- Also stated in: § G12R mutation in the GDP/GTP-binding domain disrupts cell homeostasis · boosted
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“We have identified an autosomal dominant (AD) missense mutation in the RAC2 gene (coding for Ras-related C3 botulinum toxin substrate 2 [RAC2]) in three SCID patients whose clinical presentation overlaps with the RD SCID but who lack AK2 mutations and deafness.”
§ A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency > Introduction
plainstates an associationn = 3- Asserted: passes — The authors put it forward as true.
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“This variant (confirmed by Sanger sequencing) was not annotated in our in-house database (n=14,154 samples in the cohort) or in the human Genome Aggregation Database, and was predicted to be deleterious by four different in silico prediction software tools, including Combined Annotation Dependent Depletion (Online Supplementary Figure S1B).”
§ A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency > Results > A missense mutation (G12R) in the RAC2 GTPase protein leads to a severe combined immunodeficiencies phenotype
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In the paper
“A high level of the active GTPbound RAC2 state was observed for both G12V and G12R (Figure 1E), demonstrating that substitution by arginine at position 12 increases the level of active RAC2 protein; hence, the G12R mutation is associated with GOF.”
§ A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency > Results > G12R mutation in the GDP/GTP-binding domain disrupts cell homeostasis
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In the paper
§ A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency > Methods > Statistical analysis
“For all analyses, three or more independent experiments were performed.”
§ A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency > Results > G12R mutation inhibits hematopoietic stem/progenitor cell proliferation and differentiation
“The graph is representative of two independent experiments.”
Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
§ A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency > Results > G12R mutation inhibits hematopoietic stem/progenitor cell proliferation and differentiation
“(C) Neutrophil differentiation in a 7-day culture.”
§ A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency > Results > G12R mutation inhibits hematopoietic stem/progenitor cell proliferation and differentiation
“Flow cytometry was used to analyze the change over time in the percentage (%) of GFP+ cells from day 2 (when the transduction efficiency is measured) until day 8 (end of the culture)”
Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
§ A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency > Methods > Gene sequencing and gene expression in the patient's fibroblasts
“Whole-exome sequencing was performed with an Illumina TruSeq exome enrichment kit (Illumina), using 100 bp paired-end reads.”
§ A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency > Results > A missense mutation (G12R) in the RAC2 GTPase protein leads to a severe combined immunodeficiencies phenotype
“By performing whole-genome sequencing on the patients’ fibroblasts (the only available cell source, since the patients underwent HSCT early in life), we identified a heterozygous missense mutation (c.34G>A, p.G12R) in the RAC2 gene”
Citations
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Metadata
- Authors
- Lagresle-Peyrou, C., Olichon, A., Sadek, H., Roche, P., Tardy, C., Silva, C. D., Garrigue, A., Fischer, A., Moshous, D., Collette, Y., Picard, C., Casanova, J. L., André, I., & Cavazzana, M.
- Affiliations
- Université Toulouse III - Paul Sabatier (FR)
- Inserm (FR)
- Aix-Marseille Université (FR)
- Hôpitaux Universitaires Paris-Ouest (FR)
- Hôpital Necker-Enfants Malades (FR)
- Institut des Maladies Génétiques Imagine (FR)
- Corresponding author
- Marina Cavazzana
- ORCID
- Venue
- Haematologica
- Published
- 2020-01-09
- Volume
- 106
- Issue
- 2
- Pages
- 404-411
- ISSN
- 0390-6078 (ISSN-L)
- 1592-8721
- PMC
- PMC7849581
- OpenAlex
- W3000320124
- Semantic Scholar
- ea1a25fb299bd7b691d4b411ef124d4dbb05bfbf
- Cited by
- 35
- References
- 47
- Citations by year
- 2026: 7 · 2025: 3 · 2024: 7 · 2023: 4 · 2022: 7 · 2021: 4 · 2020: 3
- FWCI
- 1.55
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Haematologica (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- PubMed Central (publishedVersion, cc-by-nc)
- HAL (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- Institut des maladies génétiques Imagine
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Health Sciences › Medicine › Hematology › Hematopoietic Stem Cell Transplantation
- Keywords
- Rac2, severe combined immunodeficiency, gain-of-function mutations, bone marrow hypoplasia, hematopoietic stem cell transplantation, hematopoietic stem and progenitor cells, de novo mutations, leukopenia, T cell deficiency, B cell deficiency, genetic screening
- MeSH terms
- Gain of Function Mutation, Bone Marrow Failure Disorders, RAC2 GTP-Binding Protein, Bone Marrow, Female, Humans, Infant, Newborn, Mutation, Severe Combined Immunodeficiency, Hematopoietic Stem Cell Transplantation, rac GTP-Binding Proteins
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