title: X-linked Hyper-IgM Syndrome with Bronchiectasis.
abstract: The X-linked hyper-immunoglobulin M syndrome (HIGM-1) is a rare genetic disorder characterized by elevated serum IgM levels and low to undetectable levels of serum IgG, IgA and IgE. These patients characteristically present with recurrent sinopulmonary infections and recurrent diarrhea. They also have high susceptibility for Pneumocystis jiroveci (PJ) pneumonia. Herein, we report a case of HGM-1 in a 5-year-old boy who presented with bronchiectasis and, possibly, PJ pneumonia. The diagnosis was established on the basis of clinical features, immune profile, whole blood flow cytometry and history of two male sibling's death due to recurrent pneumonia and diarrhea.
authors.affiliation: Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: Devki
authors.initials: D
authors.lastname: Nandan
authors.affiliation: Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: Vimal Kumar
authors.initials: VK
authors.lastname: Nag
authors.affiliation: Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: Nitin
authors.initials: N
authors.lastname: Trivedi
authors.affiliation: Department of Clinical Microbiology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Sarman
authors.initials: S
authors.lastname: Singh
keywords: Bronchiectasis; Pneumocystis jiroveci; X-linked hyper-IgM syndrome; children