Q Fever Endocarditis Mimicking Lymphoma and ANCA-Associated Vasculitis: Two Cases and a Literature

Q fever endocarditis may be accompanied by immunological abnormalities complicating the diagnosis. We report two cases of Q fever endocarditis mimicking lymphoma and ANCA-associated vasculitis illustrating the immune disorders that can be triggered by Coxiella burnetii.

Therapeutic management of a symptomatic Kaposi’s sarcoma patient with renal failure undergoing haemodialysis: A case report

Kaposi’s sarcoma (KS) is a rare inflammation-based vascular cancer involving the skin. The viral aetiology of KS is the human herpesvirus 8 (HHV-8). KS may be frequently diagnosed in immunosuppressed kidney-transplanted patients, while is less common in patients with dialysis. It is known that various immunological abnormalities can lead to impaired immune status in uremic patients. It is noteworthy that despite the incidence of KS in patients with renal impairment, only few cases have reported efficacy and safety profile of KS targeting anti-cancer drugs in this kidney disease population. Herein, we report the first case of a symptomatic KS patient with renal disease in haemodialysis and focus on its therapeutic management. We also review the main data available from literature regarding the safety of KS therapy in dialysis patients.

Olfactory impairment in patients with primary Sjogren’s syndrome and its correlation with organ involvement and immunological abnormalities

Objective Patients with autoimmune diseases often present with olfactory impairment. The aim of the study was to assess the olfactory functions of patients with primary Sjögren’s syndrome and to correlate these findings with their disease activity. Methods Fifty-two patients with primary SS and 52 sex- and age-matched healthy control subjects were included. All of them underwent clinical and laboratory examination. Olfactory functions were evaluated using olfactory function assessment by computerized testing including the three stages of smell: threshold, identification, and memory of the different odors. Results All the olfactory scores (olfactory threshold, identification, and memory) in patients with pSS were significantly decreased than the control group (all P < 0.01). Patients had higher proportion of anosmia (13.5% vs 0%) and hyposmia (19.2% vs 11.5%) than controls (χ2 = 10.526, P < 0.01). Multivariable regression analysis revealed that ESSDAI and the symptoms of dryness, fatigue, and limb pain had negative influence on olfactory function (adjusted R2 = 0.381, 0.387, 0.513, and 0.614, respectively). ESSPRI showed significantly negative association with olfactory threshold, identification, memory, and total scores. Olfactory identification and memory scores were decreased in pSS patients with thyroid dysfunction or hypocomplementemia (P < 0.05). Smell threshold scores were decreased in pSS patients with anti-SSA antibody or anti-nuclear antibody compared with those without those autoantibodies (P < 0.01). Conclusion Our findings indicate that olfactory functions are impaired in pSS patients. There was a close correlation between olfactory dysfunction and disease severity and immunological abnormalities. Immune and systemic inflammation dysregulation might play a role in the mechanism of this defect.

Severe mycobacterium bovis BCG infection in an infant with partial dominant interferon gamma receptor deficiency-a case report

Mendalian susceptibity to mycobacterial disease (MSMD) is a condition caused by selective susceptibility to weakly virulent bacteria in otherwise healthy patients without additional immunological abnormalities. It is an inherited, genetic disorder with variety of clinical presentation. Diagnosis is mandatory because the illness may get precipitated by BCG and other live vaccines. Estimating interleukin in serum can be considered as a diagnostic test. Immunological analysis is mandatory for confirming the diagnosis. Mutation analysis can be done to confirm the mutation and hence, prevent the disease in the next sibling by testing in utero. This condition can be treated with ATT as the first line treatment. If ineffective, can be given other modalities of treatment described. But relapses are common. Stem cell transplantation is the definitive treatment. We describe an infant diagnosed as partial dominant interferon gamma receptor deficiency (IFNGR1) deficiency, who responded to ATT

Safety of direct injection of oligodendrocyte progenitor cells into the spinal cord of uninjured Göttingen minipigs

OBJECTIVE This study was conducted as a final proof-of-safety direct injection of oligodendrocyte progenitor cells into the uninjured spinal cord prior to translation to the human clinical trials. METHODS In this study, 107 oligodendrocyte progenitor cells (LCTOPC1, also known as AST-OPC1 and GRNOPC1) in 50-μL suspension were injected directly into the uninjured spinal cords of 8 immunosuppressed Göttingen minipigs using a specially designed stereotactic delivery device. Four additional Göttingen minipigs were given Hanks’ Balanced Salt Solution and acted as the control group. RESULTS Cell survival and no evidence of histological damage, abnormal inflammation, microbiological or immunological abnormalities, tumor formation, or unexpected morbidity or mortality were demonstrated. CONCLUSIONS These data strongly support the safety of intraparenchymal injection of LCTOPC1 into the spinal cord using a model anatomically similar to that of the human spinal cord. Furthermore, this research provides guidance for future clinical interventions, including mechanisms for precise positioning and anticipated volumes of biological payloads that can be safely delivered directly into uninjured portions of the spinal cord.

Olfactory impairment in patients with primary Sjogren’s syndrome and its correlation with organ involvement and immunological abnormalities

Objective Patients with autoimmune diseases often present with olfactory impairment. The aim of the study was to assess the olfactory functions of patients with primary Sjögren’s syndrome, and to correlate these findings with their disease activity.Methods Fifty-two patients with primary SS and 52 sex- and age- matched healthy control subjects were included. All of them underwent clinical and laboratory examination. Olfactory functions were evaluated using olfactory function assessment by computerized testing including the three stages of smell: threshold, identification and memory of the different odors. Results All the olfactory scores (olfactory threshold, identification and memory) in patients with pSS were significantly decreased than the control group (all P<0.01). Patients had higher proportion of anosmia (13.5% vs 0%) and hyposmia (19.2% vs 11.5%) than controls (χ2 =10.526, P <0.01). Multivariable regression analysis revealed that ESSDAI and the symptoms of dryness, fatigue and limb pain had negative influence on olfactory function (adjusted R2=0.381, 0.387, 0.513 and 0.614, respectively). ESSPRI showed significantly negative association with olfactory threshold, identification, memory and total scores. Olfactory identification and memory scores were decreased in pSS patients with thyroid dysfunction or hypocomplementemia (P<0.05). Smell threshold scores were decreased in pSS patients with anti-SSA antibody or anti-nuclear antibody compared with those without those autoantibodies (P<0.01). Conclusion Our findings indicate that olfactory functions are impaired in pSS patients. There was close correlation between olfactory dysfunction with disease severity and immunological abnormalities. Immune and systemic inflammation dysregulation might play a role in the mechanism of this defect.

New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.

Clinical characteristics and immunological abnormalities of Castleman disease complicated with autoimmune diseases

Purpose To explore the clinical features and immunological mechanisms of Castleman disease (CD) complicated with autoimmune diseases (AID). Methods We explored the prevalence and clinical manifestations of CD complicated with AID by reviewing clinical, pathological, and laboratory data of 40 CD patients retrospectively, and then explored abnormal immune mechanisms in the co-existence of the two entities by monitoring lymphocyte subsets in peripheral blood. Results Paraneoplastic pemphigus, autoimmune hemolytic anemia, Sjogren’s syndrome, myasthenia gravis, and psoriasis were found to be coexisted with CD in 9/40 (22.5%) patients with different sequence of onset. No bias in the clinical and histological type of CD was observed for the occurrence of AID. CD patients with AID were more likely to have skin and/or mucous membrane damage and pulmonary complications, and presented elevated erythrocyte sedimentation rate, hypergammaglobulinemia, and positive autoantibodies than those without AID (p < 0.05). Deregulated cellular and innate immune responses as indicated by decreased CD3+ T cells and increased natural killer cells were observed in peripheral blood of CD patients with AID (p < 0.05). UCD patients with AID were successfully treated with surgery and immunosuppressive therapy. MCD complicated by AID relieved with immunosuppressors, cytotoxic chemotherapy, and rituximab. Conclusion Systemic inflammation/immunological abnormalities and organ dysfunction were associated with the occurrence of AID in CD. Impairment of cellular and innate immunity may be a candidate etiology for the coexistence of the two entities.

Abnormalities in subsets of B and T cells in Mexican patients with inborn errors of propionate metabolism: observations from a single-center case series

Background: Propionate inborn errors of metabolism (PIEM), including propionic (PA) and methylmalonic (MMA) acidemias, are inherited metabolic diseases characterized by toxic accumulation of propionic, 3-hydroxypropionic, methylcitric, and methylmalonic organic acids in biological fluids, causing recurrent acute metabolic acidosis events and encephalopathy, which can lead to fatal outcomes if managed inadequately. PIEM patients can develop hematological abnormalities and immunodeficiency, either as part of the initial clinical presentation or as chronic complications. The origin and characteristics of these abnormalities have been studied poorly. Thus, the aim of the present work was to evaluate and describe lymphoid, myeloid, and erythroid cell population profiles in a group of clinically stable PIEM patients. Methods: This was a retrospective study of 11 nonrelated Mexican PIEM patients. Clinical, biochemical, nutritional, hematological, and lymphocyte subsets were analyzed. Results: Despite being considered clinically stable, 91% of patients had hematological or immunological abnormalities. The absolute lymphocyte subset counts were low in all patients but one, with CD4+ T-cell lymphopenia, being the most common one. Furthermore, of the 11 studied subjects, nine presented with a low CD4/CD8 ratio. Among the observed hematological alterations, bicytopenia was the most common (82%) one, followed by anemia (27%). Conclusion: Our results contribute to the landscape of immunological abnormalities observed previously in PIEM patients; these abnormalities can become a life-threatening chronic com-plications because of the increased risk of opportunistic diseases. These findings allow us to propose the inclusion of monitoring immune biomarkers, such as subsets of lymphocytes in the follow up of PIEM patients.