BCG-osis and tuberculosis in a child with chronic granulomatous disease

Bustamante, Jacinta; Aksu, Güzide; Vogt, Guillaume; Beaucoudrey, Ludovic de; Genel, Ferah; Chapgier, Ariane; Filipe-Santos, Orchidée; Feinberg, Jacqueline; Émile, Jean-François; Kütükçüler, Necil; Casanova, Jean‐Laurent

doi:10.1016/j.jaci.2007.04.034

Cited by 120 publications

(98 citation statements)

References 49 publications

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“…Such "holes-in-the-repertoire" defects (for recent review see [6]) are likely to be common in the population and may, taken together, account for a substantial number of, hitherto largely undiagnosed, patients with PID. Furthermore, a recent observation [7] shows that novel mutations in "classical" genes, i.e. those known to be involved in a given PID, may give rise to a different phenotype, suggesting that the field is getting more complex than previously recognized.…”

Section: Introductionmentioning

confidence: 99%

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Antibody deficiency diseases

Pan‐Hammarström

Hammarström

2008

Eur J Immunol

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Primary immunodeficiency diseases are rare disorders characterized by quantitative or qualitative defects in cells or components in the immune system, resulting in a high degree of susceptibility to various types of infections. During differentiation, stem cells undergo a series of discrete steps, governed by a large number of different genes. Mutations/deletions in these genes will result in a block in differentiation of the affected cell lineage(s), leading to immunodeficiency. To date, more than 150 different types of disorders have been described. In this review, we will focus on novel findings in antibody deficiency syndromes. IntroductionPrimary immunodeficiency diseases (PID) are disorders characterized by quantitative or qualitative defects in cells or components in the immune system, resulting in a high degree of susceptibility to various types of infections. During differentiation, stem cells undergo a series of discrete steps, governed by a large number of different genes. Mutations/deletions in these genes will result in a block in differentiation of the affected cell lineage(s), leading to immunodeficiency. To date, more than 150 different types of diseases have been described and the genetic basis for most of these defects is known (see [1,2] for recent reviews).Principally, PID can be subdivided into T cell, B cell, combined (T+B), phagocyte and complement defects. The combined immunodeficiencies (SCID) are clinically the most severe and will, if undiagnosed, lead to death of the affected child, usually within the first year of life. Other defects, numerically more prevalent and including common variable immunodeficiency (CVID) and IgA deficiency (IgAD), will result in considerable morbidity, but are rarely associated with mortality.The above defects are all "global", i.e. associated with susceptibility to a variety of different pathogens. However, recently, several PID have been described that are characterized by an increased frequency of infections caused by selected pathogens such as mycobacteria, pneumococci [3] and herpes simplex virus [4,5]. Such "holes-in-the-repertoire" defects (for recent review see [6]) are likely to be common in the population and may, taken together, account for a substantial number of, hitherto largely undiagnosed, patients with PID. Furthermore, a recent observation [7] shows that novel mutations in "classical" genes, i.e. those known to be involved in a given PID, may give rise to a different phenotype, suggesting that the field is getting more complex than previously recognized. In addition, the etiology of several phenotypically similar, albeit in some cases not entirely identical, PID have recently been shown to be caused by mutations in other genes than those originally implicated (examples include hyper-IgM (HIGM, see below), X-linked lymphoproliferative syndrome [8], hyper-IgE [9, 10], Omenn syndrome [11] and X-linked susceptibility to mycobacterial infections [12]. Differences in glycosylation pattern may also account for selected disease phenotypes [13] and...

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Section: Introductionmentioning

confidence: 99%

“…Furthermore, a recent observation [7] shows that novel mutations in "classical" genes, i.e. those known to be involved in a given PID, may give rise to a different phenotype, suggesting that the field is getting more complex than previously recognized.…”

Section: Introductionmentioning

confidence: 99%

Antibody deficiency diseases

Pan‐Hammarström

Hammarström

2008

Eur J Immunol

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“…(Speert et al, 1994), other Gram-negative bacteria, S. aureus and Nocardia spp. (Dorman et al, 2002) and, prevalent in developing countries, Mycobacteria spp., tuberculous or non-tuberculous (Movahedi et al, 2004;Bustamante et al, 2007). Focal invasive fungal pneumonias are insidious in onset (with malaise and chronic cough), but have the highest mortality: local extension from the lungs to the pleura and the bones of the chest wall occurs in one-third of the patients (Cohen et al, 1981).…”

Section: Infectionsmentioning

confidence: 99%

“…CGD patients should receive all routine immunizations (including measles and varicella live vaccines as well as yearly influenza vaccine to prevent potentially lethal bacterial superinfections). Avoidance of Bacille Calmette-Guérin (BCG) vaccination is advocated because of risk of local BCGitis or rarely disseminated BCG-osis (Bustamante et al, 2007). Wounds should be washed well and rinsed with antiseptic solutions (e.g.…”

Section: General Health Carementioning

confidence: 99%

Modern management of chronic granulomatous disease

2008

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SummaryChronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytic cells resulting in failure to kill a characteristic spectrum of bacteria and fungi and in defective degradation of inflammatory mediators with concomitant granuloma formation. Current prophylaxis with trimethoprim-sulfamethoxazole, itraconazole and in selected cases additional interferon gamma is efficient, but imperfect. A significant recent progress towards new antibiotic (e.g. linezolid) and antifungal (e.g. voriconazole and posaconazole) therapy will allow survival of most patients into adulthood. Adolescent and adult CGD is increasingly characterized by inflammatory complications, such as granulomatous lung and inflammatory bowel disease, requiring immunosupressive therapy. Allogeneic haematopoietic stem cell transplantation from a human leucocyte antigen identical donor is currently the only proven curative treatment for CGD and can be offered to the selected patients. Gene-replacement therapy for patients lacking a suitable stem cell donor is still experimental and faces major obstacles and risks. However, it may offer some transitory benefits and has helped in a few cases to overcome life-threatening infections.

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“…En général, l'activité nulle ou fortement réduite de la NADPH oxydase est mise en évidence par des techniques utilisant le NBT (nitrobleu de tétrazolium) ou le DHR (réduction de la dihydrorhodamine) ou la réduction du cytochrome-c [10]. Ces patients présentent rarement des infections mycobactériennes [11,12]. Chez tous ces patients existe un défaut de l'explosion oxydative dans l'ensemble des cellules phagocytaires.…”

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BCG-osis and tuberculosis in a child with chronic granulomatous disease

Cited by 120 publications

References 49 publications

Antibody deficiency diseases

Antibody deficiency diseases

Modern management of chronic granulomatous disease

Prédisposition mendélienne aux infections mycobactériennes et défaut de l’explosion oxydative des macrophages

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