By searching for additional XRCC4-interacting factors, we identified a previously uncharacterized 33 kDa protein, XRCC4-like factor (XLF, also named Cernunnos), that has weak sequence homology with XRCC4 and is predicted to display structural similarity [scienceopen.com]

[…] worsens over time. [16] Using a human induced pluripotent stem cell model of NHEJ1 deficiency, it was shown that NHEJ1 has an important role in promoting survival of the primitive hematopoietic progenitors. [17] These NHEJ1 deficient cells possess a weak [ipfs.io]

[…] vitiligo Neuroblastoma Freckling Severe short stature Respiratory failure Anal atresia Abnormality of the nervous system Hydronephrosis Intellectual disability, moderate Hyperactivity Macrotia Retrognathia Prominent nose Skeletal muscle atrophy Muscle weakness [mendelian.co]

Our results demonstratethat XLF-iPSCs possess a weak NHEJ-mediated DNArepair capacity that is incapable of coping with the DNAlesions introduced by physiological stress, normal metabo-lism, and ionizing radiation. [documents.tips]

Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016. [books.google.com]

[…] combined immunodeficiency in peripheral blood who have a history of severe early-onset infections, but trisomy 21, trisomy 18, and other microdeletion syndromes have been ruled out Assay Assay and technical information Invitae is a College of American Pathologists [invitae.com]

Considerations for testing This test may be considered for individuals: who have abnormal newborn screening results for SCID who have combined immunodeficiency in peripheral blood who have a history of severe early-onset infections, but trisomy 21, trisomy [invitae.com]

21), EEC syndrome ( TP63 ) Genetic defects that may be variably associated with T-cell lymphopenia, but are not likely to be identified by newborn screening for SCID. [aacc.org]