X-linked hyper-IgM syndrome associated with pulmonary manifestations: A very rare case of functional mutation in CD40L gene in Iran - 09/03/18
, Mohammad Nabavi b, Masoud Zadkarami c, Mohammad Shahrooei d, eCet article a été publié dans un numéro de la revue, cliquez ici pour y accéder
Abstract |
Hyper IgM (HIGM) syndromes are a complex of primary immunodeficiency disorders. A 4-years-old boy with recurrent fever and chills, dyspnea, sort throat for a month was admitted to emergency department. In the current case, whole exome sequencing followed by Sanger sequencing were employed in order to screen probable functional mutations. Molecular analysis revealed a functional mutation across the CD40L gene (NM_000074: exon5: c.T464C) resulted in amino acid change p.L155P attributed to X-linked hyper IgM syndrome. The findings of the current study signify the critical role of microbial infection as well as XHIGM screening, particularly in those children cases with respiratory symptoms.
Le texte complet de cet article est disponible en PDF.Abbreviations : HIGM, CD40L, WES, PAP, PJP
Keywords : Hyper IgM syndrome, CD40 ligand, Whole exome sequencing
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