Affymetrix Cytogenetics array data for a study of D45-deficiency resulting from uniparental disomy: a novel cause of SCID

ABSTRACT: Analysis of the molecular etiologies of severe combined immunodeficiency (SCID) has led to important insights into the control of immune cell development. Most cases of SCID result from either X-linked or autosomal recessive inheritance of mutations in a known causative gene. However, in some cases, the molecular etiology remains unclear. To identify the cause of SCID in a patient known to lack the protein tyrosine phosphatase CD45, we utilized single nucleotide polymorphisms (SNP) Cytogenetics arrays; The patient’s mother was heterozygous for an inactivating mutation in CD45, while the paternal alleles exhibited no detectable mutations. The patient exhibited a single CD45 mutation identical to the maternal allele. Patient SNP array analysis revealed no change in copy number but loss of

ORGANISM(S): Homo sapiens

SUBMITTER: JIANMING PEI 

PROVIDER: E-GEOD-35674 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress