Streptococcal Infections in Patients with Chronic Granulomatous Disease: Case Report and Review of the Literature

Falcone, Emilia Liana; Hanses, Stephan; Stock, Frida; Holland, Steven M.; Zelazny, Adrian M.; Uzel, Gülbû

doi:10.1007/s10875-012-9661-8

Cited by 15 publications

(7 citation statements)

References 15 publications

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“…in our patient in addition to catalase-positive bacteria, i.e., Escherichia coli and Salmonella typhi . The pathogenicity of Streptococci in CGD can be explained by some strains that produced no hydrogen peroxide ( 33 , 34 ). Hence, the possibility of getting infected by catalase-negative microbes should be taken into consideration despite being rare in CGD patients.…”

Section: Discussionmentioning

confidence: 99%

Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing

et al. 2021

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Blended phenotypes exhibited by a patient may present a challenge to the establishment of diagnosis. In this study, we report a seven-year-old Murut girl with unusual features of Williams-Beuren syndrome (WBS), including recurrent infections and skin abscesses. Considering the possibility of a second genetic disorder, a mutation screening for genes associated with inborn errors of immunity (IEI) was conducted using whole exome sequencing (WES). Analysis of copy number variations (CNVs) from the exome data revealed a 1.53Mb heterozygous deletion on chromosome 7q11.23, corresponding to the known WBS. We also identified a biallelic loss of NCF1, which indicated autosomal recessive chronic granulomatous disease (CGD). Dihydrorhodamine (DHR) flow cytometric assay demonstrated abnormally low neutrophil oxidative burst activity. Coamplification of NCF1 and its pseudogenes identified a GT-deletion (ΔGT) at the start of exon 2 in NCF1 (NM_000265.7: c.75_76delGT: p.Tyr26Hisfs*26). Estimation of NCF1-to-NCF1 pseudogenes ratio using ΔGT and 20-bp gene scans affirmed nil copies of NCF1 in the patient. While the father had a normal ratio of 2:4, the mother had a ratio of 1:5, implicating the carrier of ΔGT-containing NCF1. Discovery of a 7q11.23 deletion involving one NCF1 allele and a ΔGT in the second NCF1 allele explained the coexistence of WBS and CGD in our patient. This study highlights the capability of WES to establish a molecular diagnosis for a case with blended phenotypes, enabling the provision of appropriate prophylactic treatment.

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Section: Discussionmentioning

confidence: 99%

Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing

et al. 2021

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“…However, Streptococcus viridans , which is inherently a catalase negative bacteria, was isolated in BAL cultures (>100,000 colonies). In this regard, it is noteworthy that Streptococcus species are a well-known cause of disease in neutropenic hosts [ 19 ] and have recently been recognized as important pathogens in CGD [ 20 ]. Indeed, streptococcal infections caused by S. intermedius , S. mitis , or S. anginosus may lead to pyogenic liver abscesses in individuals with CGD [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

“…In this regard, it is noteworthy that Streptococcus species are a well-known cause of disease in neutropenic hosts [ 19 ] and have recently been recognized as important pathogens in CGD [ 20 ]. Indeed, streptococcal infections caused by S. intermedius , S. mitis , or S. anginosus may lead to pyogenic liver abscesses in individuals with CGD [ 20 ]. Moreover, S. viridans have also been reported to cause mastoiditis, periauricular abscesses, and cervical adenitis in patients diagnosed with autosomal recessive variants of CGD [ 21 , 22 ].…”

Section: Discussionmentioning

confidence: 99%

Residual NADPH Oxidase Activity and Isolated Lung Involvement in X-Linked Chronic Granulomatous Disease

Gutiérrez

McSherry

Ishmael

et al. 2012

Case Reports in Pediatrics

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Chronic granulomatous disease (CGD) is characterized by inherited immune defects resulting from mutations in the NADPH oxidase complex genes. The X-linked type of CGD is caused by defects in the CYBB gene that encodes gp91-phox, a fundamental component of the NADPH oxidase complex. This mutation originates the most common and severe form of CGD, which typically has absence of NADPH oxidase function and aggressive multisystemic infections. We present the case of a 9-year-old child with a rare CYBB mutation that preserves some NADPH oxidase activity, resulting in an atypical mild form of X-linked CGD with isolated lung involvement. Although the clinical picture and partially preserved oxidase function suggested an autosomal recessive form of CGD, genetic testing demonstrated a mutation in the exon 3 of CYBB gene (c.252 G>A, p.Ala84Ala), an uncommon X-linked CGD variant that affects splicing. Atypical presentation and diagnostic difficulties are discussed. This case highlights that the diagnosis of mild forms of X-linked CGD caused by rare CYBB mutations and partially preserved NADPH function should be considered early in the evaluation of atypical and recurrent lung infections.

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“…Neosartorya udagawae ) [4] and common pathogens (e.g. streptococci) [5] have also been identified in CGD.…”

Section: Introductionmentioning

confidence: 99%

Rothia aeria Neck Abscess in A Patient with Chronic Granulomatous Disease: Case Report and Brief Review of the Literature

2012

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Streptococcal Infections in Patients with Chronic Granulomatous Disease: Case Report and Review of the Literature

Cited by 15 publications

References 15 publications

Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing

Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing

Residual NADPH Oxidase Activity and Isolated Lung Involvement in X-Linked Chronic Granulomatous Disease

Rothia aeria Neck Abscess in A Patient with Chronic Granulomatous Disease: Case Report and Brief Review of the Literature

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