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A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis

Jae Yeon Kim, Jeong Hee Shin, Se In Sung, Jin Kyu Kim, Ji Mi Jung, So Yoon Ahn, Eun Sun Kim, Ja-Young Seo, Eun-Sook Kang, Sun-Hee Kim, Hee-Jin Kim, Yun Sil Chang, Won Soon Park

Clin Exp Pediatr. 2014;57(1):50-53. Published online January 31, 2014

Crossref 13

Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with...

DOI: https://doi.org/10.3345/kjp.2014.57.1.50

Original Article

Clinical Application of a Scoring System in the Diagnosis of Group A Streptococcal Pharyngitis

Hyeon-Bu Kim, Byung-Soo Cho, Sung-Ho Cha, Jeong-Hun Ha, Sun-Hee Kim, Gui-Sook Cho

Clin Exp Pediatr. 1998;41(10):1365-1371. Published online October 15, 1998

Purpose : A scoring system could be clinically useful in determining cases in which a throat culture may be omitted or in cases whether antibiotics may be initiated or not. We propose to make a clinical guideline of antibiotics administration in patients with pharyngitis. Methods : From Apr. 1996. to Mar. 1997, throat cultures were taken from 321 cases(72 cases from...

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