Dyskeratosis congenita
I Dokal - Stiehm's Immune Deficiencies, 2014 - Elsevier
Dyskeratosis congenita (DC) is a complex syndrome exhibiting marked clinical and genetic
heterogeneity. In its classic form it is characterized by mucocutaneous abnormalities, bone
marrow (BM) failure, and a predisposition to cancer. Studies over the past 15 years have led
to significant advances with 10 DC genes (DKC1, TERC, TERT, NOP10, NHP2, TINF2,
C16orf57/USB1, TCAB1, CTC1, and RTEL1) having been characterized. Nine of these are
important in telomere maintenance, and patients usually have very short telomeres. These …
heterogeneity. In its classic form it is characterized by mucocutaneous abnormalities, bone
marrow (BM) failure, and a predisposition to cancer. Studies over the past 15 years have led
to significant advances with 10 DC genes (DKC1, TERC, TERT, NOP10, NHP2, TINF2,
C16orf57/USB1, TCAB1, CTC1, and RTEL1) having been characterized. Nine of these are
important in telomere maintenance, and patients usually have very short telomeres. These …
Dyskeratosis congenita in all its forms.
I Dokal - British journal of haematology, 2000 - search.ebscohost.com
Review Page 1 768 q 2000 Blackwell Science Ltd Review DYSKERATOSIS CONGENITA IN
ALL ITS FORMS Classic dyskeratosis congenita (DC) is an inherited disease characterized by
the triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia (Zinsser,
1906; Engman, 1926; Cole et al, 1930). A variety of noncutaneous (dental, gastrointestinal,
genitourinary, neurological, ophthalmic, pulmonary and skeletal) abnormalities have also
been reported (Sirinavin & Trowbridge, 1975; Drachtman & Alter, 1995; Dokal, 1996a; Knight …
ALL ITS FORMS Classic dyskeratosis congenita (DC) is an inherited disease characterized by
the triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia (Zinsser,
1906; Engman, 1926; Cole et al, 1930). A variety of noncutaneous (dental, gastrointestinal,
genitourinary, neurological, ophthalmic, pulmonary and skeletal) abnormalities have also
been reported (Sirinavin & Trowbridge, 1975; Drachtman & Alter, 1995; Dokal, 1996a; Knight …