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Autosomal recessive CD70 deficiency is associated with combined immunodeficiency and EBV viremia

ABSTRACT: Autosomal recessive CD70 deficiency is associated with combined immunodeficiency and EBV viremia

PROVIDER: PRJNA353543 | ENA |

REPOSITORIES: ENA

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Autosomal Recessive CD70 Deficiency

Project description:<p>We describe four patients from two unrelated families of different ethnicities who had primary immunodeficiency predominantly manifesting as susceptibility to EBV-related diseases. We performed whole exome sequencing (P1 and P2 from family 1) or whole genome sequencing (P4 and both parents from family 2) in those two families and identified homozygous frameshift or in-frame deletions in CD70 in these patients which abolished either CD70 surface expression or binding to its counter structure CD27. Sanger sequencing identified the same homozygous <i>CD70</i> mutation in P3, which is not included in the dbGaP submission. Autosomal recessive CD70 deficiency is a novel cause of combined immunodeficiency and EBV-associated diseases, reminiscent of CD27 deficiency.</p>

| phs001245 | dbGaP

Autosomal recessive PIK3CD deficiency

Project description:Autosomal recessive PIK3CD deficiency

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Project description:Autosomal recessive CD70 deficiency is associated with combined immunodeficiency and EBV viremia

| PRJNA353544 | ENA

Exome Sequencing in Autosomal Recessive Progressive External Ophthalmoplegia

Project description:Exome Sequencing in Autosomal Recessive Progressive External Ophthalmoplegia

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Autosomal recessive SBNO2 deficiency causes an immunodysregulatory syndrome

Project description:Autosomal recessive SBNO2 deficiency causes an immunodysregulatory syndrome

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Genotyping of autosomal recessive type of limb-girdle muscular dystrophies

Project description:26 limb-girdle muscular dystrophy patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 204 healthy unrelated controls were genotyped for 96 most frequent known limb-girdle muscular dystrophies causing mutations for the region, using VeraCode GoldenGate system. More information can be found in article Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies in BMC Musculoskeletal Disorders by I. Inashkina et al.

2016-04-28 | E-MTAB-4662 | biostudies-arrayexpress

Genetics and Functional Studies of Autosomal Recessive Neurological Disorders

Project description:Genetics and Functional Studies of Autosomal Recessive Neurological Disorders

| PRJNA971741 | ENA

Autosomal recessive TPPII mutations cause a new human immunodeficiency

Project description:Autosomal recessive TPPII mutations cause a new human immunodeficiency

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Genetics and Functional Studies of Autosomal Recessive Neurological Disorders

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Analysis of CD70 wild type or CD70 knock out CD70-specific nanoCAR T cells

Project description:CD70 is an attractive target for chimeric antigen receptor (CAR) T cell therapy as treatment for both solid and liquid malignancies. However, functionality of CD70-specific CAR T cells is only modest. Here, we optimized a CD70-specific VHH based CAR (nanoCAR). We evaluated the nanoCARs in clinically relevant models in vitro, using co-cultures of CD70-specific nanoCAR T cells with malignant rhabdoid tumor organoids, and in vivo by using a diffuse large B cell lymphoma (DLBCL) patient-derived xenograft (PDX) model. Whereas the nanoCAR T cells were highly efficient in organoid co-cultures, they showed only modest efficacy in the PDX model. Knocking out CD70 expression in the nanoCAR T cells resulted in dramatically enhanced functionality in the PDX model, suggesting that CD70 interaction in cis with the nanoCAR induces exhaustion. Through single-cell transcriptomics, we obtained evidence that CD70 KO CD70-specific nanoCAR T cells are protected from antigen-induced exhaustion. Our data show that CARs targeted to endogenous T cell antigens, negatively affect CAR T cell functionality by inducing an exhausted state, which can be overcome by knocking out the specific target, in this case CD70.

2024-06-17 | GSE227435 | GEO

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