Severe Chronic Neutropenia International Registry
Subjects will be enrolled on this registry when their doctor indicates to study staff that they are eligible by means of their chronic neutropenia diagnosis. Health information will be shared via annual paper report forms. This study documents and shares a patient's treatment, procedures and clinical course with study sponsors. Bone marrow slides will be sent to the university of Washington to confirm the diagnosis at enrollment and whenever a significant health change occurs. The bone marrow procedure will not occur for research purposes, but only as ordered clincically.
1. A confirmed diagnosis of severe chronic neutropenia based on documented absolute
neutrophil counts of less than 0.5x109/L on at least three occasions in the three months
prior to enrollment.
2. For patients with presumed cyclic neutropenia, documentation of at least two neutrophil
cycles is preferred. Documentation should include the nadirs with neutrophil counts of
less than 200 followed by a clear increase in the counts generally to at least 500 to 1000
followed by a second nadir, usually expected to occur at about three weeks after the first
nadir, i.e., cycling with a three week periodicity. Documentation with at least six weeks of
counts and two expected nadirs is preferred. Cases not showing clear oscillations will be
categorized as congenital (if neutropenia or neutropenic complications appear to have
occurred from birth) or idiopathic (if all symptoms in evidence points to an acquired
disorder occurring after the first year of life).
3. Bone marrow aspiration consistent with the diagnosis of congenital, cyclic or idiopathic
neutropenia. In all of these conditions, it is expected that the marrow aspirate evaluation
at the time of neutropenia will show a deficiency of mature neutrophils. An exception is
myelokathexis, a condition with large accumulations of neutrophils with pycnotic nuclei in
the marrow. Bone marrow aspirates may show some dyspoiesis of the neutrophil
lineage, but abnormalities of erythropoiesis or platelet formation are, in general,
inconsistent with the diagnosis of SCN.
4. Normal cytogenetic evaluation. The only exception being cases of well documented
severe congenital neutropenia with preferably previously documented normal cytogenetic
evaluation will now be enrolled in the Registry at the time of evolution to leukemia.
5. History of recurrent infections (i.e. severe mouth ulcers, gingivitis and sinusitis).
6. Age greater than three months.
7. Independent of hematological parameters, patients with the following diagnoses may be
included: Shwachman-Diamond syndrome (SDS), glycogen storage disease type Ib
(GSD1b), Barth syndrome.
8. Patients with moderately severe chronic neutropenia (i.e., ANC less than 1.0x109/L) and
recurrent severe infections (i.e., deep tissue infections of subcutaneous areas, lungs,
9. Immune neutropenia with positive anti-neutrophil antibodies meeting criteria in 1, 3, 5
10. All SCN patients previously enrolled in Amgen-sponsored SCN studies.