Hyper IgM syndrome presenting as chronic suppurative lung disease

Silvia Montella,Angela Di Giorgio,Marco Maglione,Virginia Mirra,Giuliana Giardino,Loredana Palamaro,Matilde Valeria Ursini,Carlo Caffarelli,Francesca Santamaria,Mariacarolina Salerno,Claudio Pignata

doi:10.1186/1824-7288-38-45

Abstract

The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination. Affected patients show humoral immunodeficiency and high susceptibility to opportunistic infections. Elevated serum IgM levels are the hallmark of the disease, even though in few rare cases they may be in the normal range. Hyper IgM is associated with low to undetectable levels of serum IgG, IgA, and IgE. In some cases, alterations in different genes may be identified. Mutations in five genes have so far been associated to the disease, which can be inherited with an X-linked (CD40 ligand, and nuclear factor-kB essential modulator defects) or an autosomal recessive (CD40, activation-induced cytidine deaminase, and uracil-DNA glycosylase mutation) pattern. The patient herein described presented with recurrent upper and lower respiratory infections and evidence of suppurative lung disease at the conventional chest imaging. The presence of low serum IgG and IgA levels, elevated IgM levels, and a marked reduction of in vivo switched memory B cells led to a clinical and functional diagnosis of HIGM although the genetic cause was not identified.

Highlights

Chronic suppurative lung disease (CSLD) describes a clinical syndrome characterized by chronic endobronchial suppuration with or without high resolution computed tomography (HRCT) evidence of bronchiectasis [1,2]
Hyper IgM syndrome is a heterogeneous group of immune defects characterized by normal or increased production of IgM contrasting with a marked decrease or an absence of other isotypes (i.e., IgG, IgA, and IgE)
A common complication of both clinical and subclinical infections is represented by cholangiopathy, which may lead to the development of liver function tests alterations, sclerosing cholangitis, and cirrhosis that may eventually result in cholangiocarcinoma [16]

Summary

Introduction

Chronic suppurative lung disease (CSLD) describes a clinical syndrome characterized by chronic endobronchial suppuration with or without high resolution computed tomography (HRCT) evidence of bronchiectasis [1,2]. The presenting symptoms are identical to bronchiectasis, and include recurrent chest infections with prolonged moist or productive cough, exertional dyspnoea, features of reactive airway disease, and in some cases growth failure.

Results

Conclusion