Considerations in the Diagnosis of Chronic Granulomatous Disease

Yu, Joyce E.; Azar, Antoine; Chong, Hey; Jongco, Artemio M.; Prince, Benjamin

doi:10.1093/jpids/piy007

Cited by 39 publications

(17 citation statements)

References 78 publications

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“…They predominated in phagocytic defects and hyper IgE syndrome. 7 They tended to be multiple, recurrent and difficult to control. Bacteriologic cultures should be performed since the growth of unusual organisms is not infrequent.…”

Section: Discussionmentioning

confidence: 99%

Cutaneous Manifestations of Primary Immunodeficiency Diseases in Tunisian Children

Dhouib

Khaled

Ouederni

et al. 2018

Mediterr J Hematol Infect Dis

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Skin manifestations are frequent among patients with primary immunodeficiency diseases (PIDs). Their prevalence varies according to the type of immunodeficiency. This review provides the reader with an up-to-date summary of the common dermatologic manifestations of PIDs among Tunisian children. We conducted a prospective study on two hundred and ninety children with immune deficiency. Demographic details (including age, sex, and consanguinity) with personal and family history were recorded. Special attention was paid to cutaneous manifestations. Dermatological involvements were grouped according to the etiology of their most prominent sign. Cutaneous manifestations were found in 164 patients (56.5%). They revealed the diagnosis of PIDs in 71 patients (24.5 %). The mean age at presentation was 21 months. Overall the most prominent cutaneous alterations were infectious. They accounted for 106 cases (36.55%). The most prevalent causes of cutaneous infections were bacterial: 93 cases (32.06%). Immuno-allergic skin diseases were among the common findings in our study. These include eczematous dermatitis found in 62 cases (21.38%). Malignancy related PIDs was seen in a boy with Wiskott Aldrich syndrome. He developed Kaposi’s sarcoma at the age of 14 months. Cutaneous changes are common among children with PIDs. In pediatric patients with failure to thrive, chronic refractory systemic manifestations often present in other family members, recurrent cutaneous infections unresponsive to adequate therapy, atypical forms of eczematous dermatitis or unusual features should arouse the suspicion of PIDs and prompt specialized immunologic consultation should be made.

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Section: Discussionmentioning

confidence: 99%

Cutaneous Manifestations of Primary Immunodeficiency Diseases in Tunisian Children

Dhouib

Khaled

Ouederni

et al. 2018

Mediterr J Hematol Infect Dis

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“…While positive results in either of these tests are generally diagnostic, genetic sequencing confirms the diagnosis. 71…”

Section: Cgd Diagnosismentioning

confidence: 99%

<p>Geographic Variability and Pathogen-Specific Considerations in the Diagnosis and Management of Chronic Granulomatous Disease</p>

Prince¹,

Thielen²,

Williams³

et al. 2020

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Chronic granulomatous disease (CGD) is a rare but serious primary immunodeficiency with varying prevalence and rates of X-linked and autosomal recessive disease worldwide. Functional defects in the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex predispose patients to a relatively narrow spectrum of bacterial and fungal infections that are sometimes fastidious and often difficult to identify. When evaluating and treating patients with CGD, it is important to consider their native country of birth, climate, and living situation, which may predispose them to types of infections that are atypical to your routine practice. In addition to recurrent and often severe infections, patients with CGD and X-linked female carriers are also susceptible to developing many non-infectious complications including tissue granuloma formation and autoimmunity. The DHR-123 oxidation assay is the gold standard for making the diagnosis and it along with genetic testing can help predict the severity and prognosis in patients with CGD. Disease management focuses on prophylaxis with antibacterial, antifungal, and immunomodulatory medications, prompt identification and treatment of acute infections, and prevention of secondary granulomatous complications. While hematopoietic stem-cell transplantation is the only widely available curative treatment for patients with CGD, recent advances in gene therapy may provide a safer, more direct alternative.

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“…The predilection of GC for Boxers and French Bulldogs <3 years also mirrors CGD, which is considered a cause of very early onset inflammatory bowel disease (IBD) in children <6 years [ 1 , 13 , 14 ]. Impaired killing of catalase-producing bacteria in CGD is linked to mutations in nicotinamide adenine dinucleotide phosphate (NADPH) oxidase subunit genes [ 8 , 15 , 16 ], and persistence of Tropheryma whipplei is linked to an autosomal dominant mutation in interferon regulatory factor 4 (IRF4) [ 9 ]. Susceptibility of Boxers and French bulldogs to E. coli -associated GC is linked to a region encoding the CD48/SLAM family of genes on Canis Familiaris (CFA) chromosome 38, which is implicated in human IBD and the selective sensing and killing of E. coli by murine macrophages [ 3 , 17 , 18 , 19 , 20 ].…”

Section: Introductionmentioning

confidence: 99%

Molecular and Phenotypic Characterization of Escherichia coli Associated with Granulomatous Colitis of Boxer Dogs

et al. 2020

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Invasive Escherichia coli is causally associated with granulomatous colitis (GC) of Boxer dogs and French Bulldogs. The virulence determinants of GC E. coli are unclear. E. coli isolated from 16 GC (36 strains) and 17 healthy control (HC: 33 strains) dogs were diverse in phylogeny, genotype, and serotype and lacked diarrheagenic genes. Genes encoding type II (gsp), IV (traC), and VI (hcp) secretion systems, long polar fimbriae (lpfA154/141), and iron acquisition (fyuA, chuA) were frequent in GC and HC. E. coli from 14/15 GC and 10/11 HC invaded Caco-2 better than non-pathogenic E. coli strain DH5α, with invasion correlated with motility and presence of chuA and colV. E. coli from all GC and 10/11 HC survived better than DH5α in J774 macrophages, with adherent-invasive E. coli (AIEC) in 60% GC and 73% HC. AIEC replicated in monocyte derived macrophages from a GC Boxer with CD48/SLAM risk haplotype but not the HC. Fluroquinolone resistant E. coli were less motile and invasive than fluoroquinolone sensitive (p < 0.05), and only 1/8 resistant strains met criteria for AIEC. In conclusion GC E. coli are diverse, resemble extraintestinal pathogenic E. coli (ExPEC), including AIEC, and can replicate in GC-susceptible macrophages. They are likely resident pathosymbionts that can opportunistically persist within macrophages of a GC-susceptible dog.

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Considerations in the Diagnosis of Chronic Granulomatous Disease

Cited by 39 publications

References 78 publications

Cutaneous Manifestations of Primary Immunodeficiency Diseases in Tunisian Children

Cutaneous Manifestations of Primary Immunodeficiency Diseases in Tunisian Children

<p>Geographic Variability and Pathogen-Specific Considerations in the Diagnosis and Management of Chronic Granulomatous Disease</p>

Molecular and Phenotypic Characterization of Escherichia coli Associated with Granulomatous Colitis of Boxer Dogs

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