Abstract:
:We report an atypical case of complete DiGeorge (DG) anomaly that presented initially exclusively as severe combined immunodeficiency (SCID). The child had severe infections at diagnosis, in keeping with the SCID phenotype; however, normal lymphocyte counts and immunoglobulin levels were noted at admission, which delayed diagnosis. Importantly, the child presented without neonatal hypocalcemia or velofacial or cardiac abnormalities at the time of diagnosis, which masked underlying DG. This case outlines the difficulties in making the diagnosis of SCID in a timely manner and illustrates the variation in presentation of the 22q11.2 deletion syndrome. There should be a high index of suspicion for primary immunodeficiency among children with severe infections and, because management may vary, DG anomaly should be considered in the differential diagnosis of T- B+ natural killer+ SCID.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Al-Tamemi S,Mazer B,Mitchell D,Albuquerque P,Duncan AM,McCusker C,Jabado Ndoi
10.1542/peds.2005-0371subject
Has Abstractpub_date
2005-09-01 00:00:00pages
e457-60issue
3eissn
0031-4005issn
1098-4275pii
peds.2005-0371journal_volume
116pub_type
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