TY - JOUR
T1 - Complete DiGeorge anomaly in the absence of neonatal hypocalcemia and velofacial and cardiac defects
AU - Al-Tamemi, Salem
AU - Mazer, Bruce
AU - Mitchell, David
AU - Albuquerque, Pedro
AU - Duncan, Alessandra M.V.
AU - McCusker, Christine
AU - Jabado, Nada
PY - 2005/9
Y1 - 2005/9
N2 - 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.
AB - 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.
KW - Fluorescence in situ hybridization
KW - Primary immunodeficiency
KW - Stem cell transplant
KW - Thymic transplant
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U2 - 10.1542/peds.2005-0371
DO - 10.1542/peds.2005-0371
M3 - Article
C2 - 16061570
AN - SCOPUS:33644620254
SN - 0031-4005
VL - 116
SP - e457-e460
JO - Pediatrics
JF - Pediatrics
IS - 3
ER -