Hyper-IgM syndrome: a case report.
Hyperimmunoglobulin M syndrome is a rare primary immunodeficiency disorder. We report a case of a 6-month-old boy who suffered from developmental delays, frequent respiratory tract infection, and unusual fungal and bacterial infection. X-linked hyperimmunoglobulin M syndrome was ultimately diagnosed with decreasing immunoglobulin-G, A, and E (immunoglobulin G = 51.3 mg/dL, immunoglobulin A = 8.32 mg/dL, immunoglobulin E <17.5 mg/dL), elevating immunoglobulin M (immunoglobulin M = 140 mg/dL), and decreasing T-cell expression of the CD40 ligand over flow cytometry. Seizure episodes and hypotonia developed with greater signal intensity at the putamen in a brain magnetic resonance imaging, which is compatible with hypoxic ischemic encephalopathy. This is the youngest proven case of hyper-IgM syndrome in Taiwan ever reported.
Department of Pediatrics, Taipei Hospital, Department of Health, Taiwan, ROC.
I-Jen
IJ
Wang
Shiuan-Jenn
SJ
Wang
Dah-Chin
DC
Yan
Syh-Jae
SJ
Lin
Bor-Luen
BL
Chiang
D015496:CD4-Positive T-Lymphocytes / Q000276:immunology; D023201:CD40 Ligand / Q000378:metabolism; D041321:Chromosomes, Human, X / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D020925:Hypoxia-Ischemia, Brain / Q000209:etiology; D007075:Immunoglobulin M / Q000097:blood*; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D007223:Infant; D008297:Male; D012640:Seizures / Q000209:etiology
D007075:Immunoglobulin M; D016756:Immunoglobulins, Intravenous; D023201:CD40 Ligand