1/50. association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness.Reticular dysgenesis is a rare congenital disorder characterized by severe combined immunodeficiency and profound neutropenia, curable to date, only by bone marrow transplantation. This report describes the association of bilateral sensorineural deafness with this disease.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
2/50. Disseminated osteoarticular sporotrichosis: treatment in a patient with acquired immunodeficiency syndrome.We report a case of multiple skin lesions, lymphadenopathy, and osteoarticular sporotrichosis in a man infected with human immunodeficiency virus (hiv). He subsequently died of tuberculosis after successful treatment for osteoarticular sporotrichosis with amphotericin b. We describe the unusual histopathology in disseminated sporotrichosis with acquired immunodeficiency syndrome (AIDS) and compare it with that seen in patients without AIDS. Although the optimal treatment of osteoarticular sporotrichosis in patients with AIDS is unknown, use of amphotericin b in our patient appeared successful. culture and histologic stains of all tissues taken at autopsy were negative for sporotrichosis. Recent studies of similar cases have shown initial treatment with amphotericin b followed by long-term maintenance with itraconazole to be beneficial.- - - - - - - - - - ranking = 16.727945258215keywords = immunodeficiency syndrome, immunodeficiency (Clic here for more details about this article) |
3/50. Primary nodal neuroendocrine (Merkel cell) tumor in a patient with hiv infection.Lymphadenopathy in the human immunodeficiency virus (hiv) can be of diverse etiology, ranging from infection to cancer. A neoplasm of epithelial origin manifested as inguinal lymphadenopathy without a primary lesion is rare. We report a case of Merkel cell tumor confined only to a lymph node in a patient with the acquired immunodeficiency syndrome (AIDS). We believe this is the first report of primary nodal Merkel cell tumor in a patient with hiv. Because Merkel cell tumor is a rare skin neoplasm with features suggestive of high malignant potential, it is important to distinguish a primary nodal Merkel cell tumor from malignant metastatic processes on the one hand and relatively benign causes of adenopathy on the other.- - - - - - - - - - ranking = 4.1455890516429keywords = immunodeficiency syndrome, immunodeficiency (Clic here for more details about this article) |
4/50. A preterm baby with Omenn syndrome.A preterm baby born with scaly skin who later developed recurrent infections and was subsequently diagnosed to have Omenn syndrome is presented. CONCLUSION: Any baby with ichthyotic skin and recurrent infections should have immunodeficiency considered in the differential diagnosis.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
5/50. Unusual and severe disease course in a child with ataxia-telangiectasia.Ataxia-telangiectasia (AT) is an autosomal recessive syndrome of combined immunodeficiency. Hallmarks of the disease comprise progressive cerebellar ataxia, oculocutaneous telangiectasia, cancer susceptibility and variable humoral and cellular immunodeficiency. We describe a patient with AT presenting with autoimmune haemolytic anaemia, neutropenia, hepatosplenomegaly, lymphadenopathy and hyper-IgM at the age of 6 months. At the age of 26 months she developed persistent fever, progressive lymphadenopathy and pulmonary nodular infiltrates, which were responsive to steroid therapy.- - - - - - - - - - ranking = 2keywords = immunodeficiency (Clic here for more details about this article) |
6/50. Mycobacterial spindle cell pseudotumor of lymph nodes.Two cases of spindle cell pseudotumor in the lymph nodes of patients with acquired immunodeficiency syndrome caused by mycobacterial infection are reported and the literature reviewed. The lesions mimicked neoplasms because they were composed predominantly of spindle cells arranged in a storiform pattern. Most of the spindle cells were phagocytic cells that contained large amounts of mycobacteria. It is important for the pathologist to recognize the lesion so that a prompt tissue diagnosis can be provided because specific therapy is available.- - - - - - - - - - ranking = 3.1455890516429keywords = immunodeficiency syndrome, immunodeficiency (Clic here for more details about this article) |
7/50. Cellular immunodeficiency and autoimmunity in long-term mineral oil administration.BACKGROUND: Subcutaneous mineral oil injection is an old-fashioned practice used mostly for cosmetic purposes. infection, ulceration, subcutaneous nodules, and autoimmune activation are among the known adverse effects. Immunodeficiency has not been previously reported in association with mineral oil injection. OBJECTIVE: To report the case of a 43-year-old woman who performed long-term self-administration of mineral oil and was found to have both cellular immunodeficiency and autoimmunity. methods: We performed an immunological evaluation. Throat, induced sputum, urine, and blood cultures were examined for microorganisms. Pelvic computed tomography, inguinal lymph node biopsy, bone marrow biopsy, and liver biopsy were also performed. RESULTS: Laboratory results revealed peripheral lymphopenia, very low absolute numbers of lymphocyte subpopulations, and a markedly impaired lymphocyte proliferative response to mitogens (phytohemagglutinin and concanavalin a) and recall antigens (mumps, candida albicans, purified protein derivative, and tetanus toxoid). The cultures were negative for microorganisms. The pelvic computed tomogram demonstrated areas of diffuse oil-density signals throughout the subcutaneous tissue in the gluteal area and proximal lower extremities, as well as bilateral inguinal lymphadenopathy. A lymph node biopsy specimen showed lipid granulomas and necrotizing lymphadenitis. A bone marrow biopsy specimen demonstrated hypercellular marrow with normal trilineage hematopoesis. Increased serum transaminase levels, hypoalbuminemia, positive anti-extractable nuclear antigen and anti-Ro antibodies, and plasma cells in the liver suggested an autoimmune process. CONCLUSIONS: mineral oil administration may be associated with both cellular immunodeficiency and autoimmunity. patients who have received long-term administration of a foreign substance should undergo a comprehensive immunological evaluation.- - - - - - - - - - ranking = 6keywords = immunodeficiency (Clic here for more details about this article) |
8/50. Complete digeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases.BACKGROUND: Five patients with digeorge syndrome presented with infections, skin rashes, and lymphadenopathy after the newborn period. T-cell counts and function varied greatly in each patient. Initial laboratory testing did not suggest athymia in these patients. OBJECTIVE: The purpose of this study was to determine whether the patients had significant immunodeficiency. methods: research testing of peripheral blood included immunoscope evaluation of T-cell receptor beta variable gene segment repertoire diversity, quantification of T-cell receptor rearrangement excision circles, and detection of naive T cells (expressing CD45RA and CD62L). RESULTS: The patients were classified as having digeorge syndrome on the basis of syndromic associations and heart, parathyroid, and immune abnormalities. Immunoscope evaluation revealed that the T-cell repertoires were strikingly oligoclonal in all patients. There were few recent thymic emigrants, as indicated by the very low numbers of naive T cells (<50/mm(3)) and the absence of T-cell receptor rearrangement excision circles. These studies showed that all 5 patients were athymic. Two patients died, one from infection. No thymus was found during the complete autopsy performed on one patient. CONCLUSION: patients with digeorge syndrome, skin rash, and lymphadenopathy should undergo analysis of naive T-cell numbers and of T-cell receptor beta variability segment repertoire to determine whether they are athymic, even if they have T cells with mitogen responsiveness. It is important for physicians to realize that patients with complete digeorge syndrome remain profoundly immunodeficient after development of these atypical features (rash, lymphadenopathy, and oligoclonal T cells). Prompt diagnosis is necessary for appropriate management.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
9/50. Lymphadenopathy after BCG vaccination in a child with chronic granulomatous disease.We report a 15-month-old boy who developed an ulcer in the left axillary fold following bacillus Calmette-Guerin vaccination. Subsequent immunologic and genetic studies led to the diagnosis of chronic granulomatous disease. His mother had "lupus-like" lesions, described in some carriers of this disease, that were thus related to her son's diagnosis. Although in healthy subjects this vaccination is usually harmless, in instances of impaired immunity it may cause adverse reactions. When a vaccine-related complication occurs, an underlying immunodeficiency should be sought.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
10/50. haemophilus influenzae lymphadenopathy in a patient with agammaglobulinemia: clinical-histologic-microbiologic correlation and review of the literature.agammaglobulinemia is the most common primary immunodeficiency, with an incidence of approximately 1 in 250,000 males in the united states. These patients are at risk for frequent recurrent infections, which may become fatal if untreated. patients have increased susceptibility to encapsulated pyogenic bacteria. haemophilus influenzae is second only to streptococcus pneumoniae as the bacteria most frequently implicated in infections in these patients. We present a case involving an adolescent boy with X-linked agammaglobulinemia and H influenzae cervical adenopathy, confirmed twice by culture. We correlate the clinical, microbiologic, and histologic findings. Owing to the severity of infections in this population, surgical intervention is more common than in the immunocompetent population. This description may help the pathologist in considering a differential diagnosis when examining a diagnostic lymph node biopsy in these patients.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
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