Multiple malignancies in a female patient with common variable immunodeficiency syndrome

We herein present the case of a 55-year-old woman with a previous history of malignancies – uterine adenocarcinoma, basal cell carcinoma (which occurred twice consecutively), recurrent respiratory infections due to common variable immunodeficiency (CVID), and systemic granulomatous disease diagnosed at a later age. The patient suffered from diffuse large B cell lymphoma (DLBCL), which was successfully treated with R-CHOP chemotherapy, and continued with immunoglobulin supplementation. The patient was free of lymphoma and infectious complications for over 20 months despite her persistent immunodeficiency, but eventually developed colorectal adenocarcinoma. To the best of our knowledge, this is the first reported case of CVID associated with multiple solid tumours and DLBCL.     

Reversible dysfunction of T-lymphocytes in common variable immunodeficiency.

A 30-year-old man with recurrent sinopulmonary infections, eventually fatal, was found to have common variable immunodeficiency. In addition to low serum immunoglobulin concentrations he also had lymphopenia and cell-mediated immunodeficiency as shown by cutaneous anergy and a poor lymphocyte response to phytohemagglutinin (PHA) in vitro. However, intradermal injection of PHA produced a vigorous cutaneous response, showing that some cell-mediated responsiveness remained. The responsiveness of his lymphocytes to PHA was restored towards normal (confirmed by chromosome studies) by the addition of a small number of normal leukocytes to cultures; thus a reversible functional defect in his T-lymphocytes was revealed. Experiments indicated that the defect was cellular and not due to serum factors and it was concluded that normal leukocytes restored a missing factor to the patient's T-lymphocytes. Although counts of macrophage precursor cells in the bloodstream were low, thus contributing to the immunodeficiency, this could not have caused the reduced PHA response. Several relatives of this patient had lymphoma; two cousins had common variable immunodeficiency.     

Granulomatous enteropathy in common variable immunodeficiency: a cause of chronic diarrhoea.

Gastrointestinal disease is a well recognized feature in patients with common variable immunodeficiency, and is often due to infection with a variety of organisms. Symptoms usually improve with appropriate antibiotic therapy and replacement gammaglobulin. We describe three middle-aged female patients with common variable immunodeficiency who had protracted diarrhoea and weight loss. Despite extensive investigation no infectious cause was found. All patients had granulomas distributed throughout the gastrointestinal tract, but no features of inflammatory bowel disease. There was a poor response to gammaglobulin replacement therapy, antibiotics or symptomatic treatment. We suggest that granulomatous enteropathy is another gastrointestinal manifestation of common variable immunodeficiency.     

Alopecia totalis and vitiligo in common variable immunodeficiency

Three cases of severe and irreversible alopecia occurring in patients with common variable immunodeficiency are described. In all three cases, hair loss developed after the diagnosis of immune deficiency; one of the patients also had extensive vitiligo. A fourth patient had vitiligo in the absence of alopecia. No change in the alopecia or vitiligo was noted in any patient as a result of immunoglobulin replacement therapy.     

Recurrent multiple myeloma presenting as a breast plasmacytoma

We describe a patient with multiple myeloma, who initially responded to chemotherapy and went into remission. She presented 10 months later with a right breast lump which was confirmed by core biopsy to be a plasmacytoma. Further treatment with radiotherapy, thalidomide and later second line chemotherapy appeared unsuccessful and she showed rapid disease progression with rising paraproteins and new extramedullary plasmacytoma lesions in the forehead, supraclavicular region, nasopharynx, liver, spleen, pancreas and paraaortic lymph nodes.     

Recurrent acute myelomonoblastic leukaemia presenting as a red eye

A 68-year-old man was first diagnosed as having acute myelomonoblastic leukaemia on March 17, 1983. After two remissions with treatment, he suffered a further relapse, which caused him to present with a red eye, visual failure, and oedema of the right optic nerve head. Examination of cerebrospinal fluid that was obtained on lumbar puncture demonstrated an acute central nervous system relapse. Computed tomographic scanning led to the diagnosis of leukaemic infiltration of the optic nerve. Systemic and intrathecal treatment by appropriate chemotherapy and by orbital radiotherapy led to resolution of the clinical problem.     

普通变异型免疫缺陷病合并肝硬化1例并文献复习

目的:讨论普通变异型免疫缺陷病(common variable immunodeficiency disease,CVID)的发病机制、临床表现及治疗方法。方法:报道1例普通变异型免疫缺陷病合并肝硬化患者并复习相关文献。结果:普通变异型免疫缺陷病是临床少见病,易误诊,病因不清,临床表现复杂,部分患者病程中可出现肝功能异常,甚至并发肝硬化。结论:临床反复感染的患者应考虑CVID的可能,须进一步作血浆免疫球蛋白的检测确诊。对已经确诊患者定期补充静脉丙种球蛋白,同时还应定期检查肝功能。     

普通变异型免疫球蛋白缺乏症5例并文献复习

目的旨在提高对临床表现各异的普通变异型免疫球蛋白缺乏症(common variable im-munodeficiency,CVID)的认识,以减少临床漏诊和误诊率。方法回顾我院5例CVID患者的诊治经过,并对该病的发病机制、免疫学改变和临床诊治等研究进展进行文献复习。结果5例患者分别以伴或不伴有发热、消化道、呼吸道症状就诊,最终检测免疫球蛋白明显降低而确诊,予丙种球蛋白及相应抗感染治疗后好转出院。结论CVID为原发性免疫缺陷病的一种,成年人发病多见,临床以反复感染为主要特征,尤以消化系统、呼吸系统为突出表现,可伴有自身免疫病和恶性肿瘤,血清免疫球蛋白明显减低有助于确诊。治疗上采取丙种球蛋白替代治疗。     

Human immunodeficiency virus infection in a child presenting as herpes zoster ophthalmicus

Herpes zoster is mainly a disease of the elderly. Its occurrence in younger age should be viewed with suspicion. A 9-year-old boy presented with herpes zoster ophthalmicus. He had a history of abdominal surgery one and half years back during which he had received blood transfusion. A year following the surgery he developed general malaise and fever with progressive weight loss. He was treated by local doctors. Subsequently he developed eruptions of blisters around right eye for a duration of 8 days, with which he presented to the department of ophthalmology, Pt JNM Medical College, Raipur. On investigations he was found to have infected with human immunodeficiency virus. Systemic acyclovir along with antiretroviral treatment was started, to which he showed favourable response.     

超声内镜弹性成像联合谐波造影增强超声内镜在胰腺占位性病变中的诊断价值

目的 研究超声内镜弹性成像(endoscopic ultrasound elastography,EUS-EG)联合谐波造影增强超声内镜(contrast enhanced harmonic endoscopic ultrasonography,CEH-EUS)在胰腺占位性病变中的诊断价值。方法选取就诊的胰腺占位性病变患者40例,40例患者先采用EUS-EG进行检查,分为EUS-EG组;采用EUS-EG联合CEH-EUS进行检查,分为联合组。分别观察患者检出、误诊、超声造影时相、诊断效能。结果金标准以病理学检验为准,所有患者均进行手术切除,经过病理检查发现良性病变22例,恶性18例。联合组误诊率为5.00%,低于EUS-EG组误诊率30.00%,差异有统计学意义（P<0.05）。良性与恶性超声造影时相在晚增早退、同增同退比较中,良性超声造影时相晚增早退为13.64%,低于恶性超声造影时相晚增早退55.56%,差异有统计学意义（P<0.05）。良性超声造影时相同增同退为54.55%,低于恶性超声造影时相同增同退0%,差异有统计学意义（P<0.05）。联合组敏感度97.37%、准确性95.00%,高于EUS-EG组敏感度67.86%、准确性70.00%,联合组特异度50.00%,低于EUS-EG组特异度75.00%,差异有统计学意义（P<0.05）。结论EUS-EG联合CEH-EUS在胰腺占位性病变中的诊断价值显著,能降低患者误诊率,提高敏感度、准确性,值得在临床中推广应用。     

Brugada syndrome masquerading as acute myocardial infarction in a patient presenting with ventricular fibrillation

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Angioinvasive cerebral aspergillosis presenting as acute ischaemic stroke in a patient with diabetes mellitus

Cerebral angioinvasive aspergillosis is a rare manifestation of disseminated aspergillosis which may result in stroke in immunocompromised individuals. Reports of such disease in patients with diabetes mellitus are rare. We describe a 45-year-old man with diabetes mellitus who presented with a three-day history of right-sided limb weakness and aphasia. Cerebral computed tomography showed features of an acute infarct involving the left anterior and middle cerebral arteries. He was initially treated for an acute ischaemic stroke. Further history revealed that he was investigated for a growth in the sphenoid sinus two months earlier. Culture of the biopsied material from the sphenoid sinus grew Aspergillus fumigatus. Magnetic resonance imaging showed an extension of the growth to the brain, causing the acute ischaemic stroke. He was subsequently diagnosed with angioinvasive cerebral aspergillosis and was commenced on intravenous amphotericin B. Unfortunately, he succumbed to his illness despite treatment.     

Prolonged faecal excretion of poliovirus in a nurse with common variable hypogammaglobulinaemia.

A nurse with common variable hypogammaglobulinaemia was found to excrete a non-vaccine strain type II poliovirus for almost a year following a bout of gastroenteritis. Attempts were made to halt intestinal carriage of the virus in view of the possible risk of spread to immunocompromised patients and the risk of paralytic poliomyelitis to the patient himself. Three doses of killed Salk vaccine failed to stimulate salivary anti-polio antibodies. Excretion of the virus ceased spontaneously just before oral immunoglobulin containing high titres of antibodies to polio virus was used to halt virus excretion.