Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

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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

Somech et al. (2008) described 2 sisters, born of first-cousin parents of Sri Lankan descent, who presented in infancy with immunodeficiency, gonadal dysgenesis, and fatal pulmonary fibrosis. The infants displayed no dysmorphic features. Immune studies demonstrated combined humoral and cellular abnormalities including reduced immunoglobulin production, absence of lymphoid tissue, markedly reduced T lymphocyte numbers and function, and reduced newly thymus-derived T cells. Both infants succumbed to rapidly progressive pulmonary fibrosis; autopsy revealed streak ovaries bearing no discernible oocytes.

Molecular Genetics

In 2 sisters with normal 46,XX karyotype and immunodeficiency, gonadal dysgenesis, and fatal pulmonary fibrosis, Somech et al. (2008) performed FISH analysis that showed no deletion or duplication for the X centromeric region, the SRY gene (480000), and chromosome 22q11.2. Analysis of genes known to be associated with severe immune defects in infancy (IL7R, 146661; JAK3, 600173; CD3, see 186740) and ovarian dysgenesis (FSHR; 136435) showed no abnormality.