I've got the blues

Abstract

MD is a 13yo boy diagnosed with common variable immune deficiency (CVID) in 2015 after presenting with recurrent fevers, lymphadenopathy, hypogammaglobulinaemia (IgG 5.4 g/L, IgA 0.2 g/L, IgM 0.07 g/L), poor vaccine specific antibody responses and markedly reduced isotype switched memory B cells. His background included immune thrombocytopaenia (ITP) and splenectomy for granulomatous splenomegaly. He attended routine outpatient follow up with clubbing, cyanosis and a 6- month history of increasing shortness of breath. He had no significant pulmonary disease and normal cardiac structure and function. A bubble echocardiogram suggested intrapulmonary shunting and pulmonary angiography excluded pulmonary arteriovenous malformation. He had hepatomegaly with a mild transaminase leak (ALT 53 U/L, AST 45 U/L) secondary to granulomatous hepatitis with normal hepatic synthetic function and no stigmata or evidence on imaging of portal hypertension. He was diagnosed with hepato-pulmonary syndrome (HPS). He received a cadaveric hepatic transplantation which was complicated by mild acute rejection and intra-abdominal collection. The explanted liver showed nodular regenerative hyperplasia. He was weaned from supplemental oxygen 2 months after receiving transplant. There is concern about the possibility of recurrence of granuloma in his new liver and the appropriate use of long term immune suppression. This is compounded by difficulty monitoring for disease recurrence with biochemical markers and imaging proven to be unreliable markers of his initial disease progression. There have been very few case reports of HPS in CVID in the literature. A pair of monozygotic twins appears to demonstrate a familial tendency and it is tempting to consider a monogenetic molecular diagnosis may underpin this association. Whole exome sequencing has not revealed a mutation in genes known to be associated with primary immune deficiency but work is currently underway to investigate possible novel candidates.L6185627822017-10-10 <br />