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Cernunnos-XLF Deficiency

Severe Combined Immunodeficiency


Presentation

  • Here, we present two patients with Cernunnos-XLF defect, both having microcephaly, prominent growth retardation, and T-B-NK SCID, one of whom had AHA.[ncbi.nlm.nih.gov]
  • Here, we present two patients with Cernunnos‐XLF defect, both having microcephaly, prominent growth retardation, and T‐B‐NK SCID, one of whom had AHA.[doi.org]
  • (A): Sche-matic presentation of HR and NHEJ activity at 16 hours post IR. Data are presented as mean 6 SEM, n 5 4.[documents.tips]
  • Richard Stiehm, professor of paediatrics in the division of allergy, immunology and rheumatology at Mattel Children's Hospital at the University of California at Los Angeles (UCLA), was presented with the 2007 Abbott Laboratories Award.[books.google.com]
Pathologist
  • 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]
Down Syndrome
  • ., DiGeorge syndrome, CHARGE syndrome, Down syndrome, Ataxia telangiectasia, DOCK8 deficiency).[aacc.org]
  • syndrome, Familial platelet syndrome with predisposition to acute myelogenous leukemia, Inherited acute myeloid leukemia, Leukemia, acute lymphoblastic, Non-Hodgkin lymphoma CASP10 CEBPA GATA1 NBN RUNX1 BID06: BMFS, Metabolism (4 Genes) Congenital disorder[bbrauncegat.com]
Asymptomatic
  • A confounding factor is that SCID is typically asymptomatic at birth in the majority of affected babies, and the diagnosis can be missed until the onset of symptoms at a median age of 4–7 months.[aacc.org]
Sepsis
  • […] ridge Brain atrophy Hypoplastic scapulae Mild global developmental delay Lymphadenopathy Pancytopenia Macule Biparietal narrowing Bulbar signs Postnatal macrocephaly Visual impairment Generalized dystonia Syndactyly Oral cleft Thin upper lip vermilion Sepsis[mendelian.co]
Diarrhea
  • A remarkable observation was the severe diarrhea that occurred in both patients soon after transplantation.[ncbi.nlm.nih.gov]
  • Thrombocytopenia Sensorineural hearing impairment Anemia Autosomal dominant inheritance Recurrent respiratory infections Pneumonia Wide nasal bridge Chronic diarrhea Cataract Micropenis Attention deficit hyperactivity disorder Convex nasal ridge Cleft[mendelian.co]
  • Diarrhea with failure to thrive in children with SCID is usually related to infections with viruses such as rotaviruses and adenoviruses.[emedicine.medscape.com]
  • Patients often have persistent diarrhea, which can lead to a failure to thrive and skin involvement such as recurrent skin infections or rashes. Some patients with milder mutations in SCID-associated genes may be characterized as Omenn syndrome.[invitae.com]
Ptosis
  • XLF-iPSC lines are capable ofhematopoietic differentiation; however, the more primitivesubsets of hematopoietic progenitors display increased apo-ptosis in culture and an inability to repair DNA damage.Together, our findings highlight the importance of[documents.tips]
Withdrawn
  • […] symbols: Cernunnos, FLJ12610, XLF ) Mouse Orthologs Nhej1 (Withdrawn symbols: 1700029B21Rik ) Source OMIM:611291 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes[mousephenotype.org]
Stroke
  • […] all the latest approaches in clinical laboratory medicine with new and updated coverage of: the chemical basis for analyte assays and common interferences; lipids and dyslipoproteinemia; markers in the blood for cardiac injury evaluation and related stroke[books.google.com]

Treatment

  • Two yr after HSCT, the patient maintains full donor engraftment, normal hematopoiesis, and progressively improving immune competence, thus suggesting that HSCT may be the treatment of choice for CSy.[ncbi.nlm.nih.gov]
  • This therapy may provide partial immune recovery until other treatment options become available or the patient becomes non-responsive to the enzyme therapy. Another emerging treatment for SCID is gene therapy.[aacc.org]
  • Fully matched donor screening is in progress for bone marrow transplantation which is curative treatment of the disease.[scienceopen.com]
  • He is also investigating photolysis of non‐biological compounds such as 8‐methoxypsoralen UVA, mitomycin C, and nitrogen mustard and their importance in psoriasis treatment and in Fanconi anemia.[books.google.com]

Etiology

  • Researchers continue to identify SCID-associated gene defects; however, the genetic etiology remains unknown for a subset of clinically classified SCID patients.[aacc.org]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive.[worldwidescience.org]
  • Progress in the biochemistry and genetics of NHEJ and of human SCID has proven to be synergistic between these two fields in a manner that covers the range from biochemical etiology to considerations about possible gene therapy for the B SCID patients[doi.org]

Pathophysiology

  • Since the appearance of the last classification in 2007, novel forms of PID have been discovered, and additional pathophysiology mechanisms that account for PID in human beings have been unraveled.[scienceopen.com]
  • Although the book’s primary focus is on practical diagnosis and management, the pathophysiology of PID is also discussed.[books.google.es]
  • Here, we address the emerging role of medial OFC, amygdala, and ventral tegmental area projections to the ventral striatum (VS) in OCD pathophysiology.[worldwidescience.org]
  • Pathophysiology: Most primary immune deficiencies (PIDs) arise from genetic mutations that result in defects in the generation, function, or regulation of a cellular constituent of the immune system.[cancertherapyadvisor.com]

Prevention

  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.com]
  • We conclude that, in mice, Cernunnos-XLF is essential for normal NHEJ-mediated repair of DNA DSBs and that Cernunnos-XLF acts as a genomic caretaker to prevent genomic instability. Proc. Natl. Acad. Sci.[uniprot.org]
  • Our lab is interested in understanding how mammalian cells sense DNA double stand breaks, integrate cell cycle progression and cellular survival to facilitate high-fidelity repair and to prevent oncogenic transformation.[talent.sciencenet.cn]
  • The Centers for Disease Control and Prevention's Newborn Screening Branch also disseminates calibrators, quality control, and proficiency testing materials.[aacc.org]
  • Ku prevents Exo1 and Sgs1-dependent resection of DNA ends in the absence of a functional MRX complex or Sae2 . EMBO J. 29 , 3358–3369 (2010). 90. Escribano-Diaz, C. et al.[nature.com]

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