Common variable immunodeficiency presenting in a girl as lung infiltrates and mediastinal adenopathies leading to severe "superior vena caval" syndrome

Sacco, Oliviero; Fregonese, B; Picco, Paolo; Faraci, Maura; Facchetti, Paola; Pistoia, Vito; Rossi, G. A.

doi:10.1183/09031936.96.09091958

Cited by 13 publications

(18 citation statements)

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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%

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Sarcoidosis and Common Variable Immunodeficiency

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2000

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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 was recognized only in a small minority of these patients though. To date, altogether 40 patients have been described who fulfill the diagnostic criteria of both sarcoidosis and CVID [11, 12, 13, 14]. …”

Section: Introductionmentioning

confidence: 99%

Sarcoidosis and Common Variable Immunodeficiency

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2000

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“…We can discriminate between benign lymphoproliferative diseases (parenchymal lymphoid hyperplasia, reactive follicular hyperplasia) and malignancies . The enlargement of mediastinal lymph node can occasionally lead to superior vena caval syndrome and CVID was recommended to be included in differential diagnosis of ILDs and hilar lymphadenopathy (71). …”

Section: Respiratory Manifestations Of Primary Immunodeficienciesmentioning

confidence: 99%

Pulmonary Manifestations of Primary Immunodeficiency Disorders in Children

et al. 2014

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Primary immunodeficiencies (PIDs) are inherited disorders in which one or several components of immune system are decreased, missing, or of non-appropriate function. These diseases affect the development, function, or morphology of the immune system. The group of PID comprises more than 200 different disorders and syndromes and the number of newly recognized and revealed deficiencies is still increasing. Their clinical presentation and complications depend on the type of defects and there is a great variability in the relationship between genotypes and phenotypes. A variation of clinical presentation across various age categories is also presented and children could widely differ from adult patients with PID. Respiratory symptoms and complications present a significant cause of morbidity and also mortality among patients suffering from different forms of PIDs and they are observed both in children and adults. They can affect primarily either upper airways (e.g., sinusitis and otitis media) or lower respiratory tract [e.g., pneumonia, bronchitis, bronchiectasis, and interstitial lung diseases (ILDs)]. The complications from lower respiratory tract are usually considered to be more important and also more specific for PIDs and they determinate patients’ prognosis. The spectrum of the causal pathogens usually demonstrates typical pattern characteristic for each PID category. The respiratory signs of PIDs can be divided into infectious (upper and lower respiratory tract infections and complications) and non-infectious (ILDs, bronchial abnormalities – especially bronchiectasis, malignancies, and benign lymphoproliferation). Early diagnosis and appropriate therapy can prevent or at least slow down the development and course of respiratory complications of PIDs.

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“…[1][2][3][4][5][6][7][8] In a child, the superior vena cava syndrome due to a mediastinal mass is most often caused by a neoplasm, [9][10][11] and the rapid development of the syndrome in this case strongly suggests the presence of a malignant tumor, especially Hodgkin's lymphoma, non-Hodgkin's lymphoma, or a germ-cell tumor. A thymoma, leukemia, Ewing's sarcoma, metastatic rhabdomyosarcoma, and histiocytosis are additional considerations.…”

Section: Differential Diagnosismentioning

confidence: 99%