1/67. Persistent Sweet's syndrome occurring in a child with a primary immunodeficiency.Sweet's syndrome (SS) occurs most commonly in association with inflammatory or neoplastic disorders. Only rarely has it been associated with immunodeficiency disorders. We describe a child with a T-cell immunodeficiency who had a persistent neutrophilic dermatosis that was histologically and clinically consistent with SS. SS associated with immunodeficiencies may occur as a reaction to an underlying infection or a defect in immunoregulation. Such patients, however, may not be able to produce the classic fever and neutrophilia associated with SS. They may fail to respond to standard treatment for SS and may suffer a prolonged and persistent course.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
2/67. Treatment of idiopathic CD4 T lymphocytopenia with IL-2.Idiopathic CD4 T lymphocytopenia (ICL) is an unusual immune defect in which there is an unexplained deficit of CD4 T cells, leading to fungal, parasitic or other serious opportunistic infections. Current treatment efforts are directed at eliminating infections. Here we describe the use of a novel treatment, subcutaneous polyethylene glycol (PEG)-IL-2 injections, in a woman with this disorder, who had chronic severe mycobacterial disease which led to repeated hospitalizations, and advancing respiratory insufficiency. For this patient, PEG-IL-2, 50 000 U/m2, has been given by weekly subcutaneous injections for 5.5 years. This treatment has resulted in marked (and still continuing) long-term immunological improvement with normalized T cell functions and increased CD4 cell numbers. She has had substantial clinical improvement with clearing of mycobacterial disease, reducing hospitalizations and improved lung functions. The improvement seen in this patient suggests that low-dose IL-2 is a safe and practical therapy, which might be useful in other subjects with this potentially serious immune defect.- - - - - - - - - - ranking = 2keywords = infection (Clic here for more details about this article) |
3/67. Localized Mycobacterium genavense soft tissue infection in an immunodeficient hiv-negative patient.An hiv-negative woman with chronic lymphopenia related to past sarcoidosis situated in the bone marrow presented with an inflammatory lesion in the iliac region due to a localized Mycobacterium genavense soft tissue infection. The lesion resolved after 12 months of antibiotic therapy with clarithromycin, ethambutol and ciprofloxacin. The patient had no recurrence of the subcutaneous abscess during a follow-up period of 14 months after the end of the treatment.- - - - - - - - - - ranking = 5keywords = infection (Clic here for more details about this article) |
4/67. Strong alpha beta and gamma delta TCR response in a patient with disseminated mycobacterium avium infection and lack of NK cells and monocytopenia.Infection with atypical mycobacteria occurs mainly in patients with a compromised cellular immune system, in particular in those with a defective T cell or monocyte function. Here we analyzed the specific immune response of an adolescent hiv-negative patient with disseminated mycobacterium avium infection and fatal varizella zoster virus infection. The patient presented with dysplastic hematopoesis of all cell lineage's and a bicytopenia of erythrocytes and leukocytes, but a hematological malignancy could not be found. We found a peripheral lymphopenia and monocytopenia, as well as a lack of NK-cells and B-cells. lymphocytes consisted of 95% T cells, which contained up to 40% of TCR gammadelta CD4-CD8-T-cells (mainly TCR gamma9delta2), few monocytes and B-cells. Approximately 50% of CD3 T-cells showed a CD57 NK-like phenotype. Functional analysis of PBMC revealed a good antigen-specific T cell function if antigen-presenting cells were supplemented from a HLA-matched donor. Moreover, a strong M. avium specific cytotoxicity mediated by TCR alphabeta T-cells could be found in vitro and even ex vivo. In contrast, NK-killing was absent. No evidence for a defect in IL-12 or IFN-gamma production and signaling were found. The data indicate that a strong alphabeta and gammadelta T cell immunity tries to compensate for a deficient monocyte and NK cell function in this patient.- - - - - - - - - - ranking = 6keywords = infection (Clic here for more details about this article) |
5/67. A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency.Both in vitro and in vivo studies established that interleukin 7 (IL-7) is essential for differentiation of immature T cells and B cells but not natural killer (NK) cells in the mouse. In humans, although both T-cell and B-cell progenitors express the functional IL-7 receptor that consists of IL-7R alpha and the gamma common (gamma c) chain, this lymphocyte receptor system is critical for T lineage but not for B lineage development. Indeed, complete gamma c deficiency like IL-7R alpha deficiency results in the arrest of T-cell but not B-cell development (T(-)B( ) SCID). However, partial deficiency of gamma c caused by missense mutations results in a T( )B( ) phenotype and a delay of clinical presentation. It was therefore plausible to assume that partial deficiency of IL-7R alpha, like partial gamma c deficiency may lead to a milder clinical and immunologic phenotype. A P132S mutation in the IL-7R alpha was identified in 3 patients with severe combined immunodeficiency (SCID) within an extensively consanguineous family. Substitution of proline with serine in the extracellular portion of IL-7R alpha did not affect IL-7R alpha messenger rna (mRNA) and protein expression, but severely compromised affinity to IL-7, resulting in defective signal transduction. In response to IL-7 stimulation, Jak-3 phosphorylation was markedly reduced in both patient cells as well as in cos cells reconstituted with mutant IL-7R alpha. Surprisingly, this partial deficiency of IL-7R alpha resulted in a severe phenotype, including markedly reduced circulating T cells while sparing B-cell numbers similar to gamma c chain deficiency. However, unlike the previously reported cases, serum immunoglobulins were virtually absent. Further, unlike gamma c deficiency, NK cell numbers and function was preserved. Despite the partial deficiency, clinical presentation was indistinguishable from a complete gamma c deficiency, including severe and persistent viral and protozoal infections and failure to thrive. Unlike partial gamma c deficiency, a partial deficiency of IL-7R alpha results in an arrest of T-cell development, leading to typical severe combined immunodeficiency. This underscores the critical role of IL-7R alpha chain in the differentiation of T cells. (blood. 2000;96:2803-2807)- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
6/67. Selective T-cell deficiency in Turner's syndrome.The case of a 29-year-old Caucasian woman with 45 X0 karyotype, known as Turner's syndrome, and a recently diagnosed selective T-cell deficiency is reported. The main clinical features of the patient were recurrent sinopulmonary infections and a negative skin test with seven common recall antigens. Laboratory findings included lymphocytopenia, highly elevated CD45RA/CD45R0 ratio, as well as reduced expression of the co-stimulatory molecules CD154, CD86, CD80 and CD28 on CD4 cells in combination with disturbed lymphocyte transformation in vitro. Markedly decreased levels of interleukin (IL)-2R, both on lymphocyte surface as well as the soluble analog, suggest a new form of x-linked immunodeficiency associated with Turner's syndrome.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
7/67. Hypogammaglobulinemia and reduced numbers of B-cells in children with myelodysplastic syndrome.BACKGROUND: Immunodeficiency in pediatric patients with myelodysplastic syndrome (MDS) has not been described. We report the clinical course of three children with MDS, hypogammaglobulinemia, and reduced numbers of B-cells and B-cell precursors. OBSERVATIONS: Three patients with recurrent infection who were younger than 1-year-old had MDS of the refractory anemia (RA) subtype diagnosed. All had reduced numbers of circulating B-cells and hypogammaglobulinemia. In two patients, cytogenetic studies revealed a monosomy 7 karyotype and bone marrow studies showed decreased numbers of CD34 progenitor cells and CD 19 B-cells. Both patients had prolonged courses (7 yrs 10 mos and 6 yrs 9 mos) characterized by recurrent infection and slowly progressive pancytopenia. Both received allogeneic bone marrow transplantation (BMT). The third patient had normal cytogenetic studies and a normal number of CD34 progenitors but decreased CD19 B-cells in the bone marrow. She had a stable course with refractory anemia over the course of 7 years. CONCLUSIONS: Pediatric patients with MDS may have hypogammaglobulinemia and reduced numbers of B-cells. These findings do not preclude a relatively stable and prolonged clinical course. Children with newly diagnosed MDS should have an immunologic evaluation in addition to their hematologic assessment.- - - - - - - - - - ranking = 2keywords = infection (Clic here for more details about this article) |
8/67. Muscular-skeletal cryptococcosis in a patient with idiopathic CD4 lymphopenia.A healthy 27-year-old woman presented, four months after childbirth, ingravescent pain and claudication of the left lower limb. magnetic resonance imaging of the lumbosacral and iliac regions showed widespread muscular-skeletal lesions. The patient underwent surgery; cryptococcus neoformans was isolated from surgical samples. Liposomal amphotericin b, fluconazole and itraconazole were administered. Laboratory findings showed lymphocytopenia, with reduction of CD4 lymphocytes (23 cells per cubic millimeter) in the absence of hiv infection and any other defined immunodeficiency. This is a rare case of muscular-skeletal cryptococcal infection isolated in a subject affected with idiopathic CD4 lymphocytopenia.- - - - - - - - - - ranking = 2keywords = infection (Clic here for more details about this article) |
9/67. Fatal adult case of severe lymphocytopenia associated with reactivation of human herpesvirus 6.It has been suggested that immunosuppression associated with human herpesvirus 6 (HHV-6) infection is a result of functional impairment or direct destruction of immunological cells. The ability of the virus to infect and destroy lymphocytes may cause progressive immunodeficiency in an infant with primary HHV-6 infection. An adult patient is described who had a fatal cytomegalovirus (CMV) infection due to severe and prolonged lymphocyte depletion associated with HHV-6 reactivation. The HHV-6 antibody titers were increased significantly after reactivation, and the virus was isolated from his peripheral blood mononuclear cells. The quantity of both HHV-6 and CMV dna was determined by using real-time PCR in plasma samples collected serially. HHV-6 DNAemia persisted for 1 month, which started just 1 week after the onset of lymphocytopenia. In contrast to HHV-6, CMV DNAemia was detected in the terminal phase of the illness. Thus, HHV-6 reactivation may have been the cause of the severe lymphocyte depletion and fatal CMV infection.- - - - - - - - - - ranking = 4keywords = infection (Clic here for more details about this article) |
10/67. Primary leptomeningeal lymphoma in a patient with concomitant CD4 lymphocytopenia.BACKGROUND: Idiopathic CD4 lymphocytopenia (ICL) is a rare disorder in which patients have mild and/or severe opportunistic infections or maybe without symptoms. The etiology is currently unknown. diagnosis is made by excluding retroviral infections (human immunodeficiency virus-1 or -2, human T cell lymphotropic virus-1 or -2) or other known causes of immunosuppression. OBJECTIVE: To provide a case report of a patient with possible ICL who presented with a rare form of primary non-Hodgkin lymphoma (NHL) of the central nervous system (CNS). review of the literature has identified only five other patients with NHL and ICL; however, none of these had a CNS lymphoma. RESULTS: We describe a patient with possible ICL, and address links between lymphopenia and lymphoproliferative disorders. CONCLUSIONS: Although not uncommon for patients infected with human immunodeficiency virus to develop CNS NHL, this is the first case of a possible ICL patient with such a lymphoma. This case revisits an important relationship between lymphopenia and lymphoproliferative disorders.- - - - - - - - - - ranking = 2keywords = infection (Clic here for more details about this article) |
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