[The 22q11.2 deletion syndrome: immunological questions].
The 22q11.2 deletion syndrome occurs in approximately 1 of 3000-5000 children. This is a congenital disorder characterized by facial dysmorphic features, cardiac defects, thymic hypoplasia, cleft palate, hypoparathyroidism, and psychiatric disorders. Patients generally exhibit a mild to moderate decrement in T-cell numbers with preservation of T-cell function. We describe advances in understanding the genetic basis of this syndrome, its clinical manifestations, and new information on immunodeficiences in this syndrome.
Paśnik
Jarosław
J
Klinika Pediatrii, Kardiologii Prewencyjnej i Immunologii Wieku Rozwojowego Uniwersytetu Medycznego w Łodzi, Łódź, Poland. elute@poczta.onet.pl
Cywińska-Bernas
Agnieszka
A
Piotrowicz
Małgorzata
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics* / Q000276:immunology; D005820:Genetic Testing; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D016176:T-Lymphocyte Subsets / Q000276:immunology