WordNet

present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
leukopenia in which the decrease is primarily in number of neutrophils (the chief phagocytic leukocyte)

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Maciejewski-Duval A1, Meuris F1, Bignon A1, Aknin ML2, Balabanian K1, Faivre L3, Pasquet M4, Barlogis V5, Fieschi C6, Bellanné-Chantelot C2, Donadieu J7, Schlecht-Louf G1, Marin-Esteban V8, Bachelerie F8.
Journal of leukocyte biology.J Leukoc Biol.2016 Jun;99(6):1065-76. doi: 10.1189/jlb.5MA0815-388R. Epub 2015 Dec 28.
GATA2 deficiency-formerly described as MonoMAC syndrome; dendritic cells, monocytes, B cells, and natural killer cell deficiency; familial myelodysplastic syndrome/acute myeloid leukemia; or Emberger syndrome-encompasses a range of hematologic and nonhematologic anomalies, mainly characterized by mo
PMID 26710799

Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.

Rosenthal EA1, Makaryan V2, Burt AA1, Crosslin DR3, Kim DS3, Smith JD3, Nickerson DA3, Reiner AP4, Rich SS5, Jackson RD6, Ganesh SK7,8, Polfus LM9, Qi L10, Dale DC2; University of Washington, Center for Mendelian Genomics, Jarvik GP1,3.
Genetic epidemiology.Genet Epidemiol.2016 May 27. doi: 10.1002/gepi.21976. [Epub ahead of print]
Neutrophils are a key component of innate immunity. Individuals with low neutrophil count are susceptible to frequent infections. Linkage and association between congenital neutropenia and a single rare missense variant in TCIRG1 have been reported in a single family. Here, we report on nine rare mi
PMID 27229898

A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear.

Kaymak Cihan M1, Bolat F, Onay H, Sari A, Ünver Korğali E, Aslan Ş, Cura C, İçağasioğlu D.
Journal of pediatric hematology/oncology.J Pediatr Hematol Oncol.2016 May;38(4):324-8. doi: 10.1097/MPH.0000000000000504.
Severe congenital neutropenia type 4 is a disorder of the hematopoietic system associated with mutations in the glucose-6-phosphatase catabolic 3 (G6PC3) gene. This disorder is characterized by neutropenia, congenital heart defects, urogenital malformations, and prominent superficial veins. To our k
PMID 26808373

川口晃司,松原康策,内田佳子,齋藤敦郎,宮田憲二,長谷川大一郎,小阪嘉之,岩田あや,仁紙宏之,小林正夫
臨床血液 55(11), 2294-2299, 2014
症例は造血幹細胞移植(HSCT)時4歳の男児。生後6ヵ月より細菌感染症を反復し，1歳4ヵ月時に100/μl未満の好中球減少が判明した。ELANE遺伝子exon 3にp.Q73P, g.2253 A>Cをヘテロ接合性に認め，重症先天性好中球減少症(SCN)と診断した。本変異は新規でde novoの変異であった。G-CSFに不応で診断時以後感染症による入院を反復したため，血清型6座一致ドナーから …
NAID 130004705978