title: Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.
abstract: Severe congenital neutropenia (SCN) is a heterogeneous group of disorders with a defect in granulopoiesis causing marked neutropenia and severe bacterial infections. A 17-month-old girl (patient 1) was admitted due to cervical lymphadenitis caused by methicillin-resistant Staphylococcus aureus, with neutropenia. She had Pseudomonas aeruginosa sepsis and peritonitis with perforated appendicitis at 8-month of age. Her sister, a 37-month-old girl (patient 2), had recurrent stomatitis with profound neutropenia, and her mother, a 32-yr-old woman (patient 3), had had recurrent stomatitis until her early 20s with neutropenia. We found an ELANE gene mutation (c.597+1G > A) from them in direct DNA sequencing analysis. Patients 1 and 2 did not respond to granulocyte colony stimulating factor and patient 1 was treated with prolonged antibiotics and excision. We demonstrated inherited SCN cases showing different severity even with the same mutation of the ELANE gene in a family.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gachon University, Incheon, Korea.
authors.forename: Hye-Kyung
authors.identifier: 0000-0003-0990-1350
authors.initials: HK
authors.lastname: Cho
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gachon University, Incheon, Korea.
authors.forename: In Sang
authors.initials: IS
authors.lastname: Jeon
mesh_terms: D000328:Adult; D002675:Child, Preschool; D000080984:Congenital Bone Marrow Failure Syndromes; D004252:DNA Mutational Analysis; D005260:Female; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D019272:Leukocyte Elastase / Q000235:genetics*; D055624:Methicillin-Resistant Staphylococcus aureus / Q000302:isolation & purification; D009154:Mutation / Q000235:genetics; D009503:Neutropenia / Q000151:congenital* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012008:Recurrence; D013203:Staphylococcal Infections / Q000175:diagnosis / Q000382:microbiology; D013280:Stomatitis / Q000175:diagnosis; D014057:Tomography, X-Ray Computed
chemical_list: D016179:Granulocyte Colony-Stimulating Factor; D019272:Leukocyte Elastase
keywords: Infection; Neutrophil Elastase; Severe Congenital Neutropenia