Screening for C3 deficiency in newborns using microarrays.
BACKGROUND
Dried blood spot samples (DBSS) from newborns are widely used in neonatal screening for selected metabolic diseases and diagnostic possibilities for additional disorders are continuously being evaluated. Primary immunodeficiency disorders comprise a group of more than one hundred diseases, several of which are fatal early in life. Yet, a majority of the patients are not diagnosed due to lack of high-throughput screening methods.


RESULTS
We have previously developed a system using reverse phase protein microarrays for analysis of IgA levels in serum samples. In this study, we extended the applicability of the method to include determination of complement component C3 levels in eluates from DBSS collected at birth. Normal levels of C3 were readily detected in 269 DBSS from healthy newborns, while no C3 was detected in sera and DBSS from C3 deficient patients.


CONCLUSIONS
The findings suggest that patients with deficiencies of specific serum proteins can be identified by analysis of DBSS using reverse phase protein microarrays.
Janzi
Magdalena
M
Division of Clinical Immunology, Karolinska Institutet, KUS Huddinge, Stockholm, Sweden.
Sjöberg
Ronald
R
Wan
Jinghong
J
Fischler
Björn
B
von Döbeln
Ulrika
U
Isaac
Lourdes
L
Nilsson
Peter
P
Hammarström
Lennart
L
D003176:Complement C3 / Q000032:analysis* / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods; D040081:Protein Array Analysis / Q000379:methods*
D003176:Complement C3