Roifman-Chitayat Syndrome

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

PIK3CD, KNSTRN, ARPP21

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

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Clinical Features

Roifman and Chitayat (2009) reported 2 sisters, born to second-cousin parents, with a syndrome characterized by combined immunodeficiency, facial dysmorphism, optic atrophy, myoclonic seizures, skeletal anomalies, and developmental delay. Both patients had repeated bacterial, viral, and fungal infections consistent with combined immunodeficiency. Evaluation of the immune system revealed depressed responses to mitogens or anti-CD3 antibody. Humoral immunity was also affected as both patients failed to mount an antibody response to vaccination.

Inheritance

Roifman and Chitayat (2009) suggested autosomal recessive inheritance for this disorder because of its occurrence in female sibs of consanguineous parents.

Mapping

By linkage analysis, Roifman and Chitayat (2009) identified maximum lod scores for the disorder in their family to chromosomes 1 and 15 (maximum lod score of 2.654). The disease locus was mapped either to a 14-cm interval between SNPs rs11583804 and rs11806366 on chromosome 1p36.23-p33, or to a 37-cm interval between SNPs rs2732029 and rs815198 on chromosome 15q11-q21.1.