Different Clinical Phenotypes in Familial Severe Congenital Neutropenia Cases with Same Mutation of the ELANE Gene
Journal of Korean Medical Science
;
: 452-455, 2014.
Article
in English
| WPRIM
| ID: wpr-111997
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Phenotype
/
Recurrence
/
Staphylococcal Infections
/
Stomatitis
/
DNA Mutational Analysis
/
Tomography, X-Ray Computed
/
Granulocyte Colony-Stimulating Factor
/
Leukocyte Elastase
/
Polymorphism, Single Nucleotide
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Infant
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2014
Type:
Article
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