Recurrent Infections in an Infant: Close Monitoring of Sequential Neutrophil Counts Can Identify Cyclic Neutropenia

Autor: Nagamani Agarwal, K A Chaya, P Megha, Anand Subhash

Publikováno v: Indian Pediatrics Case Reports, Vol 3, Iss 2, Pp 113-116 (2023)

Background: Cyclic neutropenia (CyN) is a rare inherited neutrophil disease characterized by a periodic neutropenia with an absolute neutrophil count (ANC) dropping below 0.5 × 109/L every 3–4 weeks, followed by normalization over the next few day

Externí odkaz: https://doaj.org/article/f9d0825491c446e0a1ad6c1f53470c4b

Severe congenital neutropaenia with ELANE mutation: a case report

Autor: Tharindi Suriapperuma, Nura Hewage, Charith Udagedara, Nilanka Thennakoon, Nipunika Senadheera, Chandima Thewarapperuma, Kumudu Weerasekara

Publikováno v: Sri Lanka Journal of Medicine, Vol 29, Iss 2, Pp 80-82 (2020)

Congenital neutropaenia can be broadly divided into two subtypes: Severe congenital neutropenia (SCN) and cyclical neutropaenia. SCN is a rare genetically heterogeneous disease. This three-month-old baby girl presented with prolonged febrile illness

Externí odkaz: https://doaj.org/article/45be0c64fdbf4b80b81844e8b57b7bb8

Disease-on-the-dish modeling of ELANE start codon mutations in human severe congenital neutropenia

Autor: Lee, Yarim

Severe congenital neutropenia (SCN) is a heterozygous dominant autosomal hematopoietic disorder associated with differentiation arrest and cell death at the promyelocytic/myelocytic stages of granulopoietic differentiation, resulting in very low leve

Externí odkaz: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1626956562178187

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Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review.

Autor: Jia Y; Department of Pathology, Harbor-UCLA Medical Center, Torrance, California, United States., Yue C; Department of Pathology, Harbor-UCLA Medical Center, Torrance, California, United States., Bradford K; Division of Hematology/Oncology, Department of Pediatrics, Mattel Children's Hospital, David Geffen School of Medicine at UCLA, Los Angeles, California, United States., Qing X; Department of Pathology, Harbor-UCLA Medical Center, Torrance, California, United States., Panosyan EH; Division of Hematology/Oncology, Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California, United States., Gotesman M; Division of Hematology/Oncology, Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California, United States.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2020 Sep; Vol. 9 (3), pp. 203-206. Date of Electronic Publication: 2019 Nov 18.