Newly diagnosed chronic granulomatous disease in a 53-year-old woman with Crohn disease

Ramanuja, Srinivasan; Wolf, Karen; Sadat, Mohammed; Mahoney, Stephen J.; Dinauer, Mary C.; Nelson, Robert P.

doi:10.1016/s1081-1206(10)61212-4

Cited by 17 publications

(13 citation statements)

References 38 publications

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“…Two women identified as having homozygous mutations in NCF1 (other than the recurrent del GT) presented with milder forms of the disease. Cases of females with late onset are reported in the literature: One case described is that of a newly diagnosed chronic granulomatous disease in a 53-year-old woman with Crohn's disease, and Western blot analysis revealed the absence of the 47-phagocyte oxidase protein (Ramanuja et al, 2005). Another report showed that CGD due to NCF1 mutation mimick Crohn's disease in two sisters (proband 10 years old) (Huang et al, 2004).…”

Section: Mutations In Ncf1 Ncf2 and Cybamentioning

confidence: 99%

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations

et al. 2008

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Chronic granulomatous disease (CGD) results from constitutional inactivating mutations in the CYBB, NCF1, CYBA or NCF2 genes that encode subunits of phagocyte NADPH oxidase. We report the findings of molecular analysis of 80 kindred. In 75 unrelated male and 5 female probands, CGD was suspected on the basis of clinical symptoms, and biological samples were referred to our laboratory between 2000 and 2007. Seventy seven patients were found to have mutations in CYBB, NCF1, CYBA or NCF2 (52 different mutations including 31 mutations not previously reported). CYBB was the most frequently mutated gene (58 males and 3 females, 76%). In autosomal recessive forms of the disease, mutations were found in NCF1 (11 patients), NCF2 (3 patients) and CYBA (2 patients). We observed that significantly fewer females were affected by autosomal recessive CGD than expected (2 females/14 males; p=0.002), suggesting that female patients with CGD may be under diagnosed.

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Section: Mutations In Ncf1 Ncf2 and Cybamentioning

confidence: 99%

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations

et al. 2008

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“…These inflammatory complications typically respond rapidly to systemic steroid therapy [8]. The finding of granulomas may lead to confusion with other granulomatous conditions including Crohn's disease and, particularly in the presence of a raised serum angiotensin converting enzyme (ACE), sarcoidosis [9,10]. However, serum ACE elevation is associated with activation of the monocyte-macrophage system and may be elevated in a variety of granulomatous and non-granulomatous conditions including ulcerative colitis, tuberculosis and alcoholic liver disease [11].…”

Section: Resultsmentioning

confidence: 99%

An unusual cause of granulomatous disease

et al. 2007

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BackgroundChronic granulomatous disease (CGD) is an inherited disorder of phagocytic cells caused by an inability to generate active microbicidal oxygen species required kill certain types of fungi and bacteria. This leads to recurrent life-threatening bacterial and fungal infections with tissue granuloma formation.Case presentationWe describe a case of X-linked Chronic granulomatous disease (CGD) diagnosed in an 18-year-old male. He initially presented with granulomatous disease mimicking sarcoidosis and was treated with corticosteroids. He subsequently developed Burkholderia cepacia complex pneumonia and further investigation confirmed a diagnosis of CGD.ConclusionMilder phenotypes of CGD are now being recognised. CGD should be considered in patients of any age with granulomatous diseases, especially if there is a history of recurrent or atypical infection.

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“…As mentioned above, autosomal recessive pattern CGD usually presents at around 5–7 years of age, and such a late presentation is unusual. There are other reported cases of CGD in which a patient was diagnosed in late adulthood, but these are rare [11–13]. Up to 30–40% of CGD occurs in an autosomal recessive pattern.…”

Section: Discussionmentioning

confidence: 99%

Chronic Granulomatous Disease Presenting as Aspergillus Fumigatus Pneumonia in a Previously Healthy Young Woman

et al. 2017

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Patient: Female, 23Final Diagnosis: Chronic granulomatous diseaseSymptoms: Fever • shortness of breathMedication: —Clinical Procedure: BronchoscopySpecialty: PulmonologyObjective:Unusual clinical courseBackground:Chronic Granulomatous Disease (CGD) is a rare immunodeficiency disease caused by a genetic defect in the NADPH (nicotinamide adenine dinucleotide phosphate) oxidase enzyme, resulting in increased susceptibility to bacterial and fungal infections. The inheritance can be X-linked or autosomal recessive. Patients usually present with repeated infections early in life. We present an unusual case of a 23-year-old patient diagnosed with CGD.Case Report:A 23-year-old white woman with no previous history of recurrent infections presented with complaints of fever, shortness of breath, and diffuse myalgia. She had been treated twice for similar complaints recently, but without resolution. She was febrile, tachypneic, tachycardic, and hypoxic at presentation. Physical examination revealed diffuse inspiratory rales. Laboratory results showed leukocytosis. Her initial chest X-ray and CT chest showed reticular nodular interstitial lung disease pattern. Despite being on broad-spectrum antibiotics for 5 days, she continued to require supplemental oxygen and continued to be tachypneic, with minimal activity. Initial diagnostic tests, including bronchoscopy with biopsy and lavage, did not reveal a diagnosis. She then underwent a video-assisted thoracoscopic surgery (VATS) lung biopsy. The biopsy slides showed suppurative granulomatous inflammation affecting greater than 50% of the parenchymal lung surface. Fungal hyphae consistent with Aspergillus were present in those granulomas. A diagnosis of CGD was made and she was started on Voriconazole. She improved with treatment. Her neutrophil burst test showed negative burst on stimulation, indicating phagocytic dysfunction consistent with CGD. Autosomal recessive CGD was confirmed by genetic testing.Conclusions:CGD can present in adulthood without any previous symptoms and signs. Clinicians should consider this disease in patients presenting with recurrent or non-resolving infections. Timely treatment and prophylaxis has been shown to reduce serious infections as well as mortality in these patients.

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Newly diagnosed chronic granulomatous disease in a 53-year-old woman with Crohn disease

Cited by 17 publications

References 38 publications

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations

An unusual cause of granulomatous disease

Chronic Granulomatous Disease Presenting as Aspergillus Fumigatus Pneumonia in a Previously Healthy Young Woman

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