Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family
LA Moreno, F Gottrand, D Turck… - American journal of …, 1990 - Wiley Online Library
LA Moreno, F Gottrand, D Turck, S Manouvrier‐Hanu, F Mazingue, C Morisot, F Le Deist…
American journal of medical genetics, 1990•Wiley Online LibraryHereditary multiple atresias involving the gastrointestinal tract from pylorus to rectum are the
most unusual form of intestinal atresia; the type of inheritance was suggested to be
autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome
can be autosomal recessive or X‐linked. We report on 3 sibs with multiple‐level intestinal
atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of
the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents …
most unusual form of intestinal atresia; the type of inheritance was suggested to be
autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome
can be autosomal recessive or X‐linked. We report on 3 sibs with multiple‐level intestinal
atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of
the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents …
Abstract
Hereditary multiple atresias involving the gastrointestinal tract from pylorus to rectum are the most unusual form of intestinal atresia; the type of inheritance was suggested to be autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome can be autosomal recessive or X‐linked.
We report on 3 sibs with multiple‐level intestinal atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents of those children were healthy and nonconsanguineous.
To our knowledge, this is the first report of the association of multiple gastrointestinal atresias and immunodeficiency which appears to have an autosomal recessive pattern of transmission. Our family report suggests that, in the presence of multiple gastrointestinal atresias, attention should be given to possible associated immunological disorders.
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