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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: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 CD70 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.

| phs001245 | dbGaP

Homo sapiens

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

| PRJNA353544 | ENA

Autosomal recessive TPPII mutations cause a new human immunodeficiency

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

| PRJNA269323 | ENA

Exome Sequencing in Autosomal Recessive Progressive External Ophthalmoplegia

Project description:Exome Sequencing in Autosomal Recessive Progressive External Ophthalmoplegia

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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

Susceptibility to respiratory infections due to autosomal recessive IFIH1 mutations

Project description:Susceptibility to respiratory infections due to autosomal recessive IFIH1 mutations

| PRJNA351274 | ENA

Cas9-guided haplotyping of three truncation variants in autosomal recessive disease

Project description:An autosomal recessive disease is caused by biallelic loss-of-function mutations. However, when more than two disease-causing variants are found in a patient’s gene, it has been challenging to determine which two of the variants are responsible for the disease phenotype. To decipher the pathogenic variants by precise haplotyping, we applied nanopore Cas9-targeted sequencing (nCATS) to three truncation COL7A1 variants detected in a patient with recessive dystrophic epidermolysis bullosa (EB). The distance between the most 5’ and 3’ variants was around 19 kb at the level of genomic DNA. nCATS successfully delineated that the most 5’ and 3’ variants were located in one allele while the variant in between was in the other allele. Intriguingly, the proband’s mother, who was phenotypically intact, was heterozygous for the allele that harbored the two truncation variants, which could otherwise be misinterpreted as those of typical recessive dystrophic EB. Our study illuminates nCATS as a useful tool to determine haplotypes of complicated genetic cases. Haplotyping of multiple variants in a gene can tell which variant should be therapeutically targeted when nucleotide-specific gene therapy is applied.

2022-05-02 | GSE196673 | GEO

Autosomal recessive PIK3CD deficiency

Project description:We studied a case with suspected PIK3CD deficiency with a homozygous mutation in the patient in PIK3CD (c.1340-1 G>A). All other family members were tested and defined as carriers of the same mutation and are clinically healthy. The literature states that there is an AD but also an AR form of the disease (Immunodeficiency 14 A and B, respectively) linked to the gene. The clinical phenotype of the patient fits very well the description as LOF she suffers from severe, recurrent infections since infancy and has low overall IgG levels.

2023-12-31 | GSE216493 | GEO

Cas9-guided haplotyping of three truncation variants in autosomal recessive disease

Project description:Cas9-guided haplotyping of three truncation variants in autosomal recessive disease

| PRJNA806796 | ENA

Autosomal recessive TPP2 mutations cause a new human immunodeficiency

Project description:To define a genetic syndrome of combined immunodeficiency, severe autoimmunity, and developmental delay, 4 patients from two families who had similar syndromic features were studied. To identify disease-causing mutations, we performed whole exome sequencing for one patient and her healthy parent from Family 1 and also for one patient from Family 2. Disease segregated with novel autosomal recessive mutations in a single gene, tripeptidyl-peptidase II (TPP2) gene. The result defines a new human metabolic immunodeficiency.

| phs000848 | dbGaP

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