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CC BY-NC-ND 4.0 · J Lab Physicians 2014; 6(02): 114-116
DOI: 10.4103/0974-2727.141510
Case Report

X-linked Hyper-IgM Syndrome with Bronchiectasis

Devki Nandan
Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital, New Delhi, India
,
Vimal Kumar Nag
Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital, New Delhi, India
,
Nitin Trivedi
Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital, New Delhi, India
,
Sarman Singh
Department of Clinical Microbiology, All India Institute of Medical Sciences, New Delhi, India
› Author Affiliations Source of Support: Nil
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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.

Keywords

Bronchiectasis - children - Pneumocystis jiroveci - X-linked hyper-IgM syndrome


Publication History

Article published online:
19 April 2020

© 2014.

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