X-linked Hyper-IgM Syndrome Associated with Cryptosporidium parvum and Cryptococcus neoformans Infections: the First Case with Molecular Diagnosis in Korea

• DOI: 10.3346/jkms.2002.17.1.116
• Publication Date: 2014-09-19T07:00:01Z
• Authors: Eun Kyeong Jo; Hyung Seok Kim; Min Young Lee; Motohiro Iseki; Jae Ho Lee; Chang Hwa Song; Jeong Kyu Park; Tai Ju Hwang; Hoon Kook
• Keywords: Hypogammaglobulinemia; Cryptosporidium parvum; CD154; Primary Immunodeficiency; Lymph node biopsy; Immunoglobulin M

X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency disorder, caused by mutations of the gene encoding CD40 ligand (CD40L; CD154). We report clinical manifestations and mutational analysis CD40L observed in male patient from XHIM family. Having hypogammaglobulinemia elevated IgM, 3-yr-old boy exhibited characteristic features XHIM. The suffered frequent respiratory infections, chronic enteritis Cryptosporidium parvum. In addition, lymph node biopsy culture this sample revealed C. neoformans infection. Activated lymphocytes failed to express on their surface as assessed flow cytometry missence mutation (W140R) was found at hotspot his cDNA confirm diagnosis. Genetic mother sister showed heterozygote pattern, indicating carrier status. To our knowledge, first molecular diagnosis an Korea.