Familial eosinophilia: a benign disorder?
Familial eosinophilia (FE) is an autosomal dominant disorder characterized by marked eosinophilia and progression to end organ damage in some, but not all, affected family members. To better define the pathogenesis of FE, 13 affected and 11 unaffected family members (NLs) underwent a detailed clinical evaluation at the National Institutes of Health (NIH). No clinical abnormalities were more frequent in the family members with FE compared with the NLs. There was, however, a decreased prevalence of asthma in family members with FE compared with unaffected family members. Eosinophil morphology as assessed by either light or transmission electron microscopy was normal in family members with and without FE. Although levels of eosinophil-derived neurotoxin (EDN) and major basic protein (MBP) were elevated in patients with FE compared with NL, levels of both granule proteins were lower than in nonfamilial hypereosinophilic syndrome (HES). Similarly, increased surface expression of the activation markers CD69, CD25, and HLA-DR was detected by flow cytometry on eosinophils from patients with FE compared with NL, albeit less than that seen in HES. These data suggest that, despite prolonged marked eosinophilia, FE can be distinguished from HES by a more benign clinical course that may be related to a relative lack of eosinophil activation.
National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA. aklion@niaid.nih.gov
Amy D
AD
Klion
Melissa A
MA
Law
William
W
Riemenschneider
Mary Lou
ML
McMaster
Margaret R
MR
Brown
McDonald
M
Horne
Barbara
B
Karp
Michael
M
Robinson
Vandana
V
Sachdev
Eben
E
Tucker
Maria
M
Turner
Thomas B
TB
Nutman
D000293:Adolescent; D000328:Adult; D000368:Aged; D015703:Antigens, CD / Q000032:analysis; D000945:Antigens, Differentiation, T-Lymphocyte / Q000032:analysis; D002470:Cell Survival; D002648:Child; D002675:Child, Preschool; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D047208:Eosinophil-Derived Neurotoxin; D004802:Eosinophilia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D004804:Eosinophils / Q000737:chemistry / Q000648:ultrastructure; D005192:Family Health; D005260:Female; D006684:HLA-DR Antigens / Q000032:analysis; D006801:Humans; D007223:Infant; D037181:Lectins, C-Type; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D004676:Myelin Basic Protein / Q000097:blood; D010446:Peptide Fragments / Q000097:blood; D017455:Receptors, IgE / Q000032:analysis; D015375:Receptors, Interleukin-2 / Q000032:analysis; D012260:Ribonucleases / Q000097:blood; D012720:Severity of Illness Index; D000099192:CD69 Antigens
D015703:Antigens, CD; D000945:Antigens, Differentiation, T-Lymphocyte; D047208:Eosinophil-Derived Neurotoxin; D006684:HLA-DR Antigens; D037181:Lectins, C-Type; D004676:Myelin Basic Protein; D010446:Peptide Fragments; D017455:Receptors, IgE; D015375:Receptors, Interleukin-2; D012260:Ribonucleases; D000099192:CD69 Antigens; C469718:myelin basic protein 1-20