The Severe Chronic Neutropenia International Registry (SCNIR or Registry) was established in 1994 to study the natural history and clinical consequences of severe chronic neutropenia (SCN) and its treatment with granulocyte colony-stimulating factor. The Registry's accomplishments include discovery of ELANE, HAXI, G6PC3 and TCIRG1 mutations as genetic causes for severe congenital neutropenia, exploring new therapies and improving care of patients with neutropenia In brief, our progress during the current grant period includes, enrollment now of more than 2000 patients. genotype-phenotype studies of ELANE associated neutropenia, discovery of G6PC3 and TCIRG1 mutations as a novel cause of SCN, discovery of RUNX1 mutations as critical step in the pathway to AML in SCN, creation of cooperative study groups various causes of SCN including Shwachman-Diamond, Barth, and WHIM syndromes, GSD1b and others, many educational activities for physicians, patients and the general public to inform about neutropenia. We have had a total of 158 publications during the current period: 57 papers, 32 book chapters, 7 editorials and commentaries, and 62 abstracts. We also have several additional papers in various stages of review for publication.
Our Specific Aims for the new grant period are: 1. To continue to define the natural history, treatment responses and clinical outcomes for patients with chronic neutropenia 2. To support studies to discover new causes for chronic neutropenia though family history, longitudinal clinical records, a biological repository and collaborations for molecular an genetic investigations 3. To foster development of cooperative groups for studies of neutropenia due to rare genetic disorders: including Shwachman-Diamond syndrome, glycogen storage disease 1b, WHIM syndrome, Barth syndrome, and immune deficiency disorders 4. To cooperate in promising clinical trials of novel targeted therapies for severe chronic neutropenia 5. To serve as an educational resource on neutropenia through development of internet-accessible materials, regular scientific and clinical meetings, presentations, and telephone and web based communication strategies

Public Health Relevance

The Severe Chronic Neutropenia International Registry (SCNIR or Registry) was established in 1994 to study the natural history and clinical consequences of severe chronic neutropenia (SCN), a condition predisposing patients to frequent and life- threatening infection. This proposal requests funds to continue operation of the Registry for the period 2014-2019, because it has proven to be an extremely useful resource for discovering SCN's genetic, molecular and cellular mechanisms and for improving care of patients with neutropenia.

National Institute of Health (NIH)
National Institute of Allergy and Infectious Diseases (NIAID)
Resource-Related Research Projects (R24)
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Special Emphasis Panel (ZAI1-QV-I (J2))
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Voulgaropoulou, Frosso
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University of Washington
Internal Medicine/Medicine
Schools of Medicine
United States
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Dale, David C (2018) Editorial: myeloid biology issue 2018. Curr Opin Hematol 25:1-2
Dale, David C; Crawford, Jeffrey; Klippel, Zandra et al. (2018) A systematic literature review of the efficacy, effectiveness, and safety of filgrastim. Support Care Cancer 26:7-20
Xia, Jun; Miller, Christopher A; Baty, Jack et al. (2018) Somatic mutations and clonal hematopoiesis in congenital neutropenia. Blood 131:408-416
Makaryan, Vahagn; Kelley, Merideth L; Fletcher, Breanna et al. (2017) Elastase inhibitors as potential therapies for ELANE-associated neutropenia. J Leukoc Biol 102:1143-1151
Skokowa, Julia; Dale, David C; Touw, Ivo P et al. (2017) Severe congenital neutropenias. Nat Rev Dis Primers 3:17032
Dale, David C (2017) How I manage children with neutropenia. Br J Haematol 178:351-363
Dale, David C (2017) Editorial for myeloid biology 2017. Curr Opin Hematol 24:1-2
Dale, David C; Bolyard, AudreyAnna; Marrero, Tracy et al. (2017) Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia. N Engl J Med 377:2290-2292
Dale, David C; Bolyard, Audrey A (2017) An update on the diagnosis and treatment of chronic idiopathic neutropenia. Curr Opin Hematol 24:46-53
Dale, David C (2016) Editorial: The mysteries of the spleen. J Leukoc Biol 100:249-51

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