Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome
نویسندگان
چکیده
We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who present with autoimmune cytopenia and peculiar facial abnormalities, which could be an atypical presentation of an incomplete form of 22q11.2 DS.
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In 1965 DiGeorge described a patient with hypoparathyroidism and cellular immune deficiency secondary to thymic hypoplasia. Soon the pattern of malformation included in this syndrome expanded to include other defects of third and fourth branchial arches as well as dysmorphic facial features. In 1978 Shprintzen reported a group of children with cleft palate or velopharyngeal incompetence, cardia...
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متن کامل22q11.2 Deletion Syndrome
In 1965 DiGeorge described a patient with hypoparathyroidism and cellular immune deficiency secondary to thymic hypoplasia. Soon the pattern of malformation included in this syndrome expanded to include other defects of third and fourth branchial arches as well as dysmorphic facial features. In 1978 Shprintzen reported a group of children with cleft palate or velopharyngeal incompetence, cardia...
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