Genetics of Familial Hemophagocytic Lymphohistiocytosis (HLH)

被引：0

作者：

Zhang, Kejian ^{[1
]}

Meyer, Lauren K. ^{[2
]}

Machowicz, Rafal ^{[3
]}

Coniglio, Maria Luisa ^{[4
]}

Sieni, Elena ^{[4
]}

Nichols, Kim E. ^{[5
]}

机构：

[1] GoBroad Hosp, GoBroad Healthcare Grp, Beijing, Peoples R China

[2] Seattle Childrens Hosp, Dept Pediat Hematol Oncol, Seattle, WA USA

[3] Med Univ Warsaw, Dept Hematol Transplantat & Internal Med, Warsaw, Poland

[4] Meyer Childrens Hosp IRCCS, Dept Pediat Hematol Oncol, Florence, Italy

[5] St Jude Childrens Res Hosp, Dept Oncol, Div Canc Predisposit, Memphis, TN USA

来源：

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA | 2025年 / 39卷 / 03期

关键词：

HLH; Familial; Genetics; Variant; Diagnosis; Genetic testing; Genotype-phenotype correlations; Genetic counseling; COMBINED IMMUNODEFICIENCY; MUTATIONS; DEFICIENCY; PERFORIN; DISEASE; PRF1; CYTOTOXICITY; MEMBRANE; VARIANTS; STXBP2;

D O I：

10.1016/j.hoc.2025.02.002

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

[No abstract available]

引用

页码：531 / 551

页数：21

共 104 条

[1] Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations [J].

Abdalgani, Manar ;

Filipovich, Alexandra H. ;

Choo, Sharon ;

Zhang, Kejian ;

Gifford, Carrie ;

Villanueva, Joyce ;

Bleesing, Jack J. ;

Marsh, Rebecca A. .

BLOOD, 2015, 126 (15) :1858-1859

[2]

Adam M.P., 1993, GeneReviews

[3] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[4] Munc18b/STXBP2 is required for platelet secretion [J].

Al Hawas, Rania ;

Ren, Qiansheng ;

Ye, Shaojing ;

Karim, Zubair A. ;

Filipovich, Alexandra H. ;

Whiteheart, Sidney W. .

BLOOD, 2012, 120 (12) :2493-2500

[5] X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options [J].

Albert, Michael H. ;

Bittner, Tanja C. ;

Nonoyama, Shigeaki ;

Notarangelo, Lucia Dora ;

Burns, Siobhan ;

Imai, Kohsuke ;

Espanol, Teresa ;

Fasth, Anders ;

Pellier, Isabelle ;

Strauss, Gabriele ;

Morio, Tomohiro ;

Gathmann, Benjamin ;

Noordzij, Jeroen G. ;

Fillat, Cristina ;

Hoenig, Manfred ;

Nathrath, Michaela ;

Meindl, Alfons ;

Pagel, Philipp ;

Wintergerst, Uwe ;

Fischer, Alain ;

Thrasher, Adrian J. ;

Belohradsky, Bernd H. ;

Ochs, Hans D. .

BLOOD, 2010, 115 (16) :3231-3238

[6] Human Autoinflammatory Diseases Mediated by NLRP3-, Pyrin-, NLRP1-, and NLRC4-Inflammasome Dysregulation Updates on Diagnosis, Treatment, and the Respective Roles of IL-1 and IL-18 [J].

Alehashemi, Sara ;

Goldbach-Mansky, Raphaela .

FRONTIERS IN IMMUNOLOGY, 2020, 11

[7]

Althonaian Nouf, 2018, JIMD Rep, V42, P105, DOI 10.1007/8904_2018_88

[8] Consequences of treatment for hemophagocytic lymphohistiocytosis in a patient with undiagnosed Gaucher disease Type 1 [J].

Anderson, Hans E. ;

Taylor, Matthew R. G. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (12) :2988-2993

[9] Identification of the homologous beige and Chediak-Higashi syndrome genes [J].

Barbosa, MDFS ;

Nguyen, QA ;

Tchernev, VT ;

Ashley, JA ;

Detter, JC ;

Blaydes, SM ;

Brandt, SJ ;

Chotai, D ;

Hodgman, C ;

Solari, RCE ;

Lovett, M ;

Kingsmore, SF .

NATURE, 1996, 382 (6588) :262-265

[10] Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG) [J].

Bean, Lora J. H. ;

Funke, Birgit ;

Carlston, Colleen M. ;

Gannon, Jennifer L. ;

Kantarci, Sibel ;

Krock, Bryan L. ;

Zhang, Shulin ;

Bayrak-Toydemir, Pinar .

GENETICS IN MEDICINE, 2020, 22 (03) :453-461

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