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We report a rare case of Good’s Syndrome (GS) or thymoma with immunodeficiency in a 48-year-old male patient. This condition presents in the fourth or fifth decade of life. GS should be suspected in a person presenting with recurrent bacterial infections with encapsulated organisms and opportunistic viral and fungal infections in the setting of thymoma, hypogammaglobulinemia and reduced or absent B cells. Our patient presented with chronic diarrhoea for the past three years, repeated esophageal candidiasis and a superior anterior mediastinal mass. Duodenal biopsy showed CMV duodenitis. Lab investigations revealed low IgM levels [hypogammaglobulinemia] and the biopsy from the mediastinal mass was consistent with thymoma. This case is being written to highlight that unexplained repeated opportunistic microbial infections should prompt the clinician to suspect immunodeficiency in the background of a negative HIV status and to emphasize that GS is one of the causes of adult-onset immunodeficiency where early recognition and treatment can improve and alter the course of the disease as GS carries a worse prognosis compared to XLA [X-linked agammaglobulinemia] and CVID [common variable immunodeficiency].

Objective Patients who develop interferon-gamma autoantibodies (IFN-ɤ autoAbs) in adult-onset immunodeficiency (AOID) syndrome are more likely to develop opportunistic and recurrent intracellular infections. The assay to detect IFN-ɤ autoAbs is essential for the diagnosis and therapeutic monitoring of AOID syndrome. Therefore, this study applied the QuantiFERON assay for the detection of IFN-ɤ autoAbs. Methods Serum from patients with AOID syndrome (n = 19) and serum from healthy patients (n = 20) was collected and applied using 2 neutralizing platforms of enzyme-linked immunosorbent assay (ELISA) kits (the BD ELISA and the QuantiFERON ELISA) for IFN-ɤ autoAbs detection. Results The pooled serum from patients with AOID syndrome showed >50% inhibition at 1:5000 dilution (positive), whereas the pooled serum from healthy patients showed 1:5,000,000 according to the neutralizing QuantiFERON ELISA. Conclusion The QuantiFERON ELISA kit could be applied for the detection of IFN-ɤ autoAbs for the diagnosis and therapeutic monitoring of AOID syndrome.

Adult-onset immunodeficiency syndrome (AOID) with anti-interferon (IFN)-γ autoantibodies is characterized by an AIDS-like illness with disruptive IFN-γ signaling. Patients generally present with recurrent and disseminated opportunistic infections along with neutrophilic dermatoses. Generalized pustular psoriasis (GPP; Online Mendelian Inheritance in Man #614204) is characterized by acute generalized erythema and scaling with numerous aseptic pustules. Mutations in SERPINA3 have been reported as predisposing risk factors for both AOID and GPP. Here, we report two unrelated patients, one with AOID and a pustular skin reaction and the other with GPP, who both carried the same heterozygous variant c.718G>A (p.Val240Met) in SERPINA1. Our observation of a shared mutation in SERPINA1 in AOID and GPP indicate possible pathobiological and disease mechanism similarities in these two disorders. Thus, variants in both SERPINA1, SERPINA3, and potentially other SERPIN family members may be associated with the etiology of GPP and AOID.

Objective To identify the candidate protein biomarkers of adult-onset-immunodeficiency (AOID) syndrome using serum proteomics. Methods Screening and verification phases were performed in the study. A total of 97 serum samples were classified into three groups: AOID patients with opportunistic infections (active AOID), AOID patients without opportunistic infections (inactive AOID), and healthy control. In the screening phase, pooled sera collected from patients and healthy control in each group were separated by 2D-gel electrophoresis, analyzed for differentially expressed proteins and identified for biomarkers using LC/MS. In the verification phase, the protein candidates were selected for confirmation by western blotting. Results The analysis revealed 35 differentially expressed proteins. Three proteins including haptoglobin, gelsolin, and transthyretin, were selected for verification. The results showed that the levels of haptoglobin in both active and inactive AOID groups were significantly higher than that in the control group, while the levels of gelsolin in the active AOID group were significantly lower than that in the inactive AOID group. The level of transthyretin in the active AOID group was also significantly lower than that in the control group. Conclusions The comparison of serum proteins between the three groups revealed three candidates which are related to chronic inflammatory diseases. Haptoglobin and transthyretin biomarkers could be applied in clinical assessment for monitor of disease outcome, including for the study of AOID pathogenesis.