Common variable immunodeficiency (CVID) is a heterogenous immunodeficiency disorder characterized by different clinical presentations. In about 10% of cases they present with granulomatous lesions occurring in spleen, lymphnodes, liver, lungs, skin or conjunctiva. Most patients belong to group-I CVID classification, either with B cells<1% or absent CD21low. The histopathology is similar to sarcoidosis, but its association with CVID occurs in a limited percentage of cases. We describe a CVID case, female aged 56yrs observed in November, 2009, but with clinical history dating from before 1988, with recurrent sinopulmonary infections, chronic diarrhea, low IgG (403 mg/dl) with absent IgA and IgM, treated since 2004 with IVIgs (20g every 2 months); she was diagnosed with cutaneous sarcoidosis in 2006 after a biopsy of a lesion on the left leg. Cutaneous granulomatous lesions appeared soon after in the periocular and perioral regions of the face and in both legs. Calcium levels, ACE, G6PDH were normal, Mantoux test neg, no visceral granulomas were detected by HRTC and US. We started sc Igs which allowed reconstitution of protective levels (to 686 mg/dL serum IgG), and treatments (HCQ, steroids and dapsone) unsuccessful for cutaneous and sinopulmonary new lesions suggesting sarcoidosis. An ocular CMV infection developed, leading to severely impaired sight, lip basal carcinoma and granulomatous lesions of the tongue. Leukopenia was constantly present, with 23% lymphocytes, 88% CD3+, 34% CD4+, 1,3% total and no memory switched B cells. Malignant lymphoma developed late in 2012. Management of this CVID subgroup is difficult and controversial.

SKIN SARCOID-LIKE LESIONS IN CVID WITH POOR OUTCOME

PAGANELLI, Roberto;TURI, MARIA COSTANZA;CELLETTI, ELEONORA
2013

Abstract

Common variable immunodeficiency (CVID) is a heterogenous immunodeficiency disorder characterized by different clinical presentations. In about 10% of cases they present with granulomatous lesions occurring in spleen, lymphnodes, liver, lungs, skin or conjunctiva. Most patients belong to group-I CVID classification, either with B cells<1% or absent CD21low. The histopathology is similar to sarcoidosis, but its association with CVID occurs in a limited percentage of cases. We describe a CVID case, female aged 56yrs observed in November, 2009, but with clinical history dating from before 1988, with recurrent sinopulmonary infections, chronic diarrhea, low IgG (403 mg/dl) with absent IgA and IgM, treated since 2004 with IVIgs (20g every 2 months); she was diagnosed with cutaneous sarcoidosis in 2006 after a biopsy of a lesion on the left leg. Cutaneous granulomatous lesions appeared soon after in the periocular and perioral regions of the face and in both legs. Calcium levels, ACE, G6PDH were normal, Mantoux test neg, no visceral granulomas were detected by HRTC and US. We started sc Igs which allowed reconstitution of protective levels (to 686 mg/dL serum IgG), and treatments (HCQ, steroids and dapsone) unsuccessful for cutaneous and sinopulmonary new lesions suggesting sarcoidosis. An ocular CMV infection developed, leading to severely impaired sight, lip basal carcinoma and granulomatous lesions of the tongue. Leukopenia was constantly present, with 23% lymphocytes, 88% CD3+, 34% CD4+, 1,3% total and no memory switched B cells. Malignant lymphoma developed late in 2012. Management of this CVID subgroup is difficult and controversial.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11564/614943
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