Cyclic Neutropenia Mimicking Crohn's Disease: Two Case Reports and a Narrative Review.

Autor: Guarino, Alessia Dalila¹ (AUTHOR) ale.tizi@hotmail.it, Luglio, Gaetano² (AUTHOR), Imperatore, Nicola³ (AUTHOR), Cerciello, Giuseppe⁴ (AUTHOR), Pugliese, Novella⁵ (AUTHOR), Castiglione, Fabiana¹ (AUTHOR), Tropeano, Francesca Paola² (AUTHOR), Testa, Anna¹ (AUTHOR), Olmo, Oriana¹ (AUTHOR), Rispo, Antonio¹ (AUTHOR) antonio.rispo2@unina.it

Publikováno v: Journal of Clinical Medicine. Oct2023, Vol. 12 Issue 19, p6323. 10p.

A distinct case of an 8-year-old female with cyclic neutropenia presenting with C. septicum abdominal sepsis and myonecrosis requiring a bowel resection and leg fasciotomy.

Autor: Anzinger, Harrison¹ (AUTHOR) hanzinge@student.ubc.ca, Cadili, Lina² (AUTHOR), Li, Amanda¹ (AUTHOR), Barclay, Amanda³ (AUTHOR), Hayashi, Allen H^2,4 (AUTHOR)

Publikováno v: Journal of Surgical Case Reports. Sep2023, Vol. 2023 Issue 9, p1-3. 3p.

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Case report: A cyclic neutropenia patient with ELANE mutation accompanied by hemophagocytic lymphohistiocytosis.

Autor: Yu L; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Li Y; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Li W; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.; Molecular Medicine Diagnostic and Testing Center, Chongqing Medical University, Chongqing, China., Zhang Y; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., He W; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Tang X; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.; Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China., An Y; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.; Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China., Zhao X; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.; Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China.

Publikováno v: Frontiers in immunology [Front Immunol] 2024 Nov 29; Vol. 15, pp. 1474429. Date of Electronic Publication: 2024 Nov 29 (Print Publication: 2024).

Case Report: Association between cyclic neutropenia and SRP54 deficiency

Autor: Melinda Erdős, Oksana Boyarchuk, László Maródi

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

Autosomal dominant mutations in the signal recognition particle (SRP) 54 gene were recently described in patients with severe congenital neutropenia (SCN). SRP54 deficiency cause a chronic and profound neutropenia with maturation arrest at the promye

Externí odkaz: https://doaj.org/article/8d3704b595f241a7b56162c6eba992fa