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Pathogens have well recognised patterns of infections but these rules are often violated in immunocompromised hosts leading to infections by atypical organisms at unexpected sites. While many of the immunodeficiency syndromes could be pinpointed to the molecular level such as X linked agammaglobulinaemia, chronic granulomatous disease and activated PI3Kδ syndrome,1 common variable immunodeficiency (CVID) represents a complex clinical syndrome with heterogeneity at the molecular, immunological and clinical levels.2 As a result of hypogammaglobulinaemia, recurrent infections with encapsulated organisms such as Streptococcus pneumoniae, Haemophilus influenzae and Moraxella catarrhalis are most common in CVID. In 2009, Malphettes et al3 defined a subgroup of patients with CVID with opportunistic infections and CD4 T cell lymphopenia as late-onset combined immune deficiency (LOCID). Currently, it is unclear if LOCID represents an extreme of the continuum of the antibody deficiency spectrum or is an isolated clinical entity. Here, we describe the unusual case of CVID which evolved over time from antibody deficiency to profound cellular immunodeficiency associated with inflammatory complications. The patient died of a massive pulmonary embolism due to fungal endocarditis of the tricuspid valve.
The patient was a 56-year-old woman whose antibody deficiency spanned 30 years, and was complicated by severe immune dysregulation, including collagenous colitis with total villous atrophy, splenomegaly and idiopathic thrombocytopenic purpura.
Symptoms began to manifest at 25 years of age when she presented with recurrent respiratory infections and persistent diarrhoea. Collagenous colitis …
Contributors GKW, LZK and APH wrote the paper. GKW, LZK, MS and APH prepared and reviewed the data.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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