T cell immunodeficiency in dyskeratosis congenita.

Immunological abnormalities in dyskeratosis congenita.

The recently described classical case of dyskeratosis congenita (DC)(1) lacked information as to whether the patient had features of immunodeficiency. The immune abnormalities described in X-linked DC include hypogammaglobulinemia (low IgM levels), severe B cell lymphopenia, low numbers of T cells, increased rate of apoptosis and marked reduction in cellular proliferation in short-term cultures...

Recurrent A353V mutation in a Thai family with X-linked dyskeratosis congenita.

DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome

Background Hoyeraal–Hreidarsson syndrome (HHS) is a rare multisystem disorder characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, neurological deficits, aplastic anemia, and immunodeficiency. HHS is a severe variant of Dyskeratosis Congenita (DC) that displays clinical features overlapping DC, with T, B and NK immunodeficiency. Both genetic disorders presents ...

Missense mutation in a patient with X-linked dyskeratosis congenita.

We report the case of a 40-year-old male patient with dyskeratosis congenita(DKC). Sequencing of the DKC1 gene revealed an inherited missense mutation in base 1050 (GC), changing methionine to isoleucine. This is the third description of a mutation in codon 350 (exon 11), changing a very well conserved amino acid in the pseudouridine synthase (PUA) domain of dyskerin.

Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome, usually presented with abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. The main cause of mortality in DC is immunodeficiency and vital infection. DC involves multisystem, but retinal involvements are rare.Herein, we report an unusual case of pediatric DC suffering from frosted branch angiitis (FBA) after...