Recurrent intra-cranial granulomata presenting as space-occupying lesions in a patient with common variable immunodeficiency

Misbah, Siraj; Spickett, GP; Mm, Esiri; Hughes, J. T.; Matthews, W. B.; Thompson, R. A.; Chapel, Helen

doi:10.1136/pgmj.68.799.359

Cited by 24 publications

(13 citation statements)

References 4 publications

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“…These granulomas were demonstrated in lymphoid tissues, solid organs, or skin [11, 13, 14, 15, 16, 17]. However, sarcoidosis has only been diagnosed in a minority of these patients.…”

Section: Discussionmentioning

confidence: 99%

Sarcoidosis and Common Variable Immunodeficiency

Sutor

Fabel²

2000

Respiration

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The occurrence of sarcoidosis in combination with common variable immunodeficiency (CVID) has been described in a small number of patients. In these patients, sarcoidosis consisted of lymphadenopathy, mild to moderate pulmonary involvement and hepatosplenomegaly. However, severe and rapidly progressive pulmonary fibrosis in combination with a severe defect of the cellular and humoral immune system has not been described yet. In our patient, defects of the T and B cell system resulted in severe immunodeficiency. The defect of the humoral immune system was characterized by the impairment of specific antibody production in vivo. In addition, hypogammaglobulinemia with missing IgA and IgE along with a marked defect in IgM and IgG production was noted. There was a progressively reduced lymphocyte proliferation in response to T cell mitogens, while proliferation after specific IL-2 stimulation was normal. A Th1 lymphocyte-subset-like profile might thus play a role in the pathogenesis and might form the connecting link between sarcoidosis and CVID. This is the report of a so far new and unique combination of severe immunodeficiency and sarcoidosis also associated with a congenital dysmorphia consisting of a palatal cleft. The findings of the 40 patients with CVID and sarcoidosis reported so far are discussed in order to point out the typical features of patients with this uncommon syndrome.

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“…These granulomas were demonstrated in lymphoid tissues, solid organs, or skin [11, 13, 14, 15, 16, 17]. However, sarcoidosis has only been diagnosed in a minority of these patients.…”

Section: Discussionmentioning

confidence: 99%

Sarcoidosis and Common Variable Immunodeficiency

Sutor

Fabel²

2000

Respiration

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“…In general, however, the benefit of higher or more frequent dosing of IgG for viral illnesses associated with CVID is not well investigated. Multiple other factors, such as environmental (43) Adenovirus meningoencephalitis (2) [25] Bacterial meningitis (22) [1,[26][27][28][29] BKV encephalitis and optic neuritis (1) [30] CMV encephalomyelitis (1) [31] Echovirus meningoencephalitis (1) [25] Histoplasmosis (1) [28] HSV encephalitis (3) [9] Mumps encephalitis (1) Poliovirus (1) [32] Progressive Multifocal Leukoencephalopathy (6) [3][4][5][6][7][8] Toxoplasma encephalitis (2) [33,34] Varicella angiitis (1) [35] Varicella zoster encephalitis (1) [1] West Nile meningitis (1) [36] Autoimmune/Inflammatory (13) optic neuritis (1) [37] myelitis (4) [10,11,38,39] limbic encephalitis (1) [12] Guillian Barre Syndrome (1) [40] granulomatous mass (4) [41][42][43][44]45] chronic inflammatory demyelinating polyneuropathy (1) [39] acute disseminated encephalomyelitis (2) [14,46] Unknown etiology (10) encephalopathy (4...…”

Section: Discussionmentioning

confidence: 99%

Neurologic Complications of Common Variable Immunodeficiency

et al. 2016

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Common variable immunodeficiency is a rare disorder of immunity associated with a myriad of clinical manifestations including recurrent infections, autoimmunity, and malignancy. Though rare, neurologic complications have been described in a small number of case reports and case series of CVID patients. In this article, we present a patient with CVID who suffered significant neurologic morbidity and categorize the reported range of neurologic complications associated with CVID. Our case highlights the complex nature of neurologic manifestations in CVID patients, and our review of the current database suggests that infection and inflammatory neurologic disorders are the cause of most neurologic presentations.

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“…Of those who had granuloma elsewhere without evidence of NRH, five had normal LFTs and no symptoms (so were not biopsied) and one had abnormal LFTs but did not have a liver biopsy. Conversely, of the six patients who had granuloma in the liver (on review or on the original report), four had granulomata elsewhere: one patient (patient 6) with granuloma in the brain [8], another patient with splenic granuloma (liver biopsy unavailable) and two with skin granuloma (patients 2 and 15).…”

Section: Correlation Of Nrh With Cvid Complicationsmentioning

confidence: 99%

“…These preparations are extracted from large pools of donated plasma resulting in a risk of viral transmission including, historically, hepatitis C virus (HCV). Consequently it is standard practice to monitor patients' liver function tests (LFTs) every [8][9][10][11][12] weeks, to detect any signs of hepatitis [3,4]. However, not all patients with LFT rises have evidence of HCV infection [5,6].…”

Section: Introductionmentioning

confidence: 99%

Abnormal liver function in common variable immunodeficiency disorders due to nodular regenerative hyperplasia

Ward¹,

Lucas²,

Piris

et al. 2008

Clinical and Experimental Immunology

116

115

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SummaryPatients with common variable immunodeficiency disorders are monitored for liver function test abnormalities. A proportion of patients develop deranged liver function and some also develop hepatomegaly. We investigated the prevalence of abnormalities and types of liver disease, aiming to identify those at risk and determine outcomes. The local primary immunodeficiency database was searched for patients with a common variable immunodeficiency disorder and abnormal liver function and/or a liver biopsy. Patterns of liver dysfunction were determined and biopsies reviewed. A total of 47 of 108 patients had deranged liver function, most commonly raised alkaline phosphatase levels. Twenty-three patients had liver biopsies. Nodular regenerative hyperplasia was found in 13 of 16 with unexplained pathology. These patients were more likely to have other disease-related complications of common variable immunodeficiency disorders, in particular non-coeliac (gluten insensitive) lymphocytic enteropathy. However, five had no symptoms of liver disease and only one died of liver complications. Nodular regenerative hyperplasia is a common complication of common variable immunodeficiency disorders but was rarely complicated by portal hypertension.

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Recurrent intra-cranial granulomata presenting as space-occupying lesions in a patient with common variable immunodeficiency

Cited by 24 publications

References 4 publications

Sarcoidosis and Common Variable Immunodeficiency

Sarcoidosis and Common Variable Immunodeficiency

Neurologic Complications of Common Variable Immunodeficiency

Abnormal liver function in common variable immunodeficiency disorders due to nodular regenerative hyperplasia

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