X-linked Hyper-IgM Syndrome with Bronchiectasis

Devki Nandan; Vimal Kumar Nag; Nitin Trivedi; Sarman Singh

doi:10.4103/0974-2727.141510

Journal of Laboratory Physicians, Table of Contents

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

Authors

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

Abstract

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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

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References

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