Nijmegen breakage syndrome

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

Lymphopenia

A reduced number of lymphocytes in the blood.


Total: 1

                       


(per page)
PMID (PMCID)
25677497
(4352190)
 MALE Infant, Newborn
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
Patel JP, Puck JM, Srinivasan R, Brown C, Sunderam U, Kundu K, Brenner SE, Gatti RA, Church JA.
J Clin Immunol. 2015;35(2):227-33.
We report an infant with low TRECs and non-SCID T lymphopenia, who proved upon whole exome sequencing to have Nijmegen breakage syndrome (NBS).