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Immunology
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia
Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun
Clin Exp Pediatr. 2016;59(Suppl 1):S49-S52.   Published online November 30, 2016

X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this absence leads to a profound deficiency of lg all isotypes, and an increased susceptibility to encapsulated bacterial infections. A 15-month-old Korean boy...

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

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...

A case of Hyper-IgE syndrome with a mutation of the STAT3 gene
Ji-man Kang, Jungmun Suh, Jihyun Kim, Hee-Jin Kim, Yae-jean Kim, Hun Seok Lee, Young Kee Shin, Kangmo Ahn, Sang-Il Lee
Clin Exp Pediatr. 2010;53(4):592-597.   Published online April 15, 2010
Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene (stat3) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent...
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