Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2014 Jul;6(2):114-6.
doi: 10.4103/0974-2727.141510.

X-linked Hyper-IgM Syndrome with Bronchiectasis

Devki Nandan  1 , Vimal Kumar Nag  1 , Nitin Trivedi  1 , Sarman Singh  2
Affiliations
Case Reports

X-linked Hyper-IgM Syndrome with Bronchiectasis

Devki Nandan et al. J Lab Physicians. 2014 Jul.

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; Pneumocystis jiroveci; X-linked hyper-IgM syndrome; children.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Chest high-resolution computed tomography. (a) Areas of ground-glass haze and nodular air space lesions in a branching pattern (tree in bud) in the right lower lobe, dilated and thickened bronchi in the left lower lobe, lingular lobe and right middle lobe. (b) Ground-glass haze in the right lung with air space lesions in the right lower lobe
See this image and copyright information in PMC

References

    1. Korthäuer U, Graf D, Mages HW, Brière F, Padayachee M, Malcolm S, et al. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature. 1993;361:539–41. - PubMed
    1. Li AM, Sonnappa S, Lex C, Wong E, Zacharasiewicz A, Bush A, et al. Non-CF bronchiectasis: Does knowing the aetiology lead to changes in management? Eur Respir J. 2005;26:8–14. - PubMed
    1. Montella S, Maglione M, Giardino G, Di Giorgio A, Palamaro L, Mirra V, et al. Hyper IgM syndrome presenting as chronic suppurative lung disease. Ital J Pediatr. 2012;38:45. - PMC - PubMed
    1. De Pauw B, Walsh TJ, Donnelly JP, Stevens DA, Edwards JE, Calandra T, et al. European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group; National Institute of Allergy and Infectious Diseases Mycoses Study Group (EORTC/MSG) Consensus Group. Revised definitions of invasive fungal disease from the European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (EORTC/MSG) Consensus Group. Clin Infect Dis. 2008;46:1813–21. - PMC - PubMed
    1. Vale AM, Schroeder HW., Jr Clinical consequences of defects in B-cell development. J Allergy Clin Immunol. 2010;125:778–87. - PMC - PubMed

Publication types