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.

Keywords

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

• 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.
• 2 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.
• 3 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.
• 4 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.
• 5 Vale AM, Schroeder HW Jr. Clinical consequences of defects in B-cell development. J Allergy Clin Immunol 2010; 125:778-87.
• 6 Lee WI, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD. Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood 2005; 105:1881-90.
• 7 Singleton R, Morris A, Redding G, Poll J, Holck P, Martinez P, et al. Bronchiectasis in Alaska Native children: Causes and clinical courses. Pediatr Pulmonol 2000;29:182-7.
• 8 Lodha R, Kabra SK. Recurrent/persistent pneumonia. Indian Pediatr 2000; 37:1085-92.
• 9 Sethi GR, Batra V. Bronchiectasis: Causes and management. Indian J Pediatr 2000; 67:133-9.
• 10 Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, et al. Clinicalspectrum of X-linked hyper-IgM syndrome. J Pediatr 1997; 131:47-54.
• 11 Festic E, Gajic O, Limper AH, Aksamit TR. Acute respiratory failure due to pneumocystis pneumonia in patients without human immunodeficiency virus infection: Outcome and associated features. Chest 2005; 128:573-9.
• 12 Crans CA Jr, Boiselle PM. Imaging features of of pneumocystis carinii pneumonia. Crit Rev Diagn Imaging 1999; 40:251-84.