1/66. 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 = immunodeficiency (Clic here for more details about this article) |
2/66. proteus syndrome and immunodeficiency.A 10 year old boy with proteus syndrome presented with a pericardial effusion of unknown aetiology. Immunological investigation revealed low serum IgG and IgA, accompanied by low levels of specific antibodies to pneumococcal and haemophilus type B polysaccharides. Circulating lymphocyte surface marker profile revealed T and B cell lymphopenia. This is the first report of hypogammaglobulinaemia occurring in the proteus syndrome.- - - - - - - - - - ranking = 0.66666666666667keywords = immunodeficiency (Clic here for more details about this article) |
3/66. 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 = immunodeficiency (Clic here for more details about this article) |
4/66. 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 = 0.16666666666667keywords = immunodeficiency (Clic here for more details about this article) |
5/66. Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia.Early death in Schimke immuno-osseous dysplasia often results from renal failure and/or cell-mediated immunodeficiency. kidney transplants have improved renal function, but effective therapy for the immunodeficiency has not yet been reported. We describe markedly improved marrow function 2 years after bone marrow transplantation in a boy with Schimke immunoosseous dysplasia.- - - - - - - - - - ranking = 0.33333333333333keywords = immunodeficiency (Clic here for more details about this article) |
6/66. Progressive outer retinal necrosis in a patient with nephrotic syndrome.Progressive outer retinal necrosis syndrome (PORN) is a variant of necrotizing herpetic retinopathy and the majority of the described cases were related to acquired immunodeficiency syndrome. We present a patient who is hiv negative with nephrotic syndrome and prednisolone use for 4 months who showed clinical features of PORN. Low CD4 counts and lymphocytopenia suggested immunosuppression. In the left eye, tractional retinal detachment at the posterior pole followed by incomplete posterior vitreous detachment developed. In addition to intravenous administration of acyclovir, vitreous surgeries including stripping of the posterior hyaloid and silicone-oil tamponade were successfully performed to repair the retinal detachment in the left eye and to prevent it in the right eye.- - - - - - - - - - ranking = 0.19437492120514keywords = immunodeficiency, immunodeficiency syndrome (Clic here for more details about this article) |
7/66. 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 = 0.16666666666667keywords = immunodeficiency (Clic here for more details about this article) |
8/66. Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia.We report a case of a combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD) characterized by an altered response to ultraviolet (UV) light due to a defect in the XPD gene. The XPD gene encodes a subunit of the transcription factor II H (TFIIH), a complex involved in nucleotide-excision repair (NER) and basal transcription. Our patient showed neurological and immune system abnormalities, including CD4 lymphopenia never previously reported in TTD patients. in vitro immunological studies revealed a marked reduction in T-cell proliferation in response to mitogens and CD3 cross-linking which was partially recovered by the addition of anti-CD28 antibody or exogenous interleukin-2. The patient's T cells displayed alterations in T-cell receptor (TCR/CD3) proximal signalling characterized by marked reduction in Lck kinase activity coupled with a constitutive hyperactivation of Fyn kinase. Despite these alterations, normal levels of Lck and Fyn proteins were detected. The role of antigen-presenting cells (APCs) in the pathogenesis of the T-cell defect was investigated by analysing dendritic cells (DCs) generated from the patient's blood monocytes. In these cells, flow cytometry revealed significantly reduced expression of the CD86 co-stimulatory molecules and HLA glycoproteins. In addition, the patient's DCs showed a decreased ability to stimulate naive T lymphocytes. overall, the results of our study suggest that a defective TFIIH complex might result in alterations in T cells and DC functions leading to a severe immunodeficiency.- - - - - - - - - - ranking = 0.33333333333333keywords = immunodeficiency (Clic here for more details about this article) |
9/66. 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 = 0.16666666666667keywords = immunodeficiency (Clic here for more details about this article) |
10/66. 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 = 0.33333333333333keywords = immunodeficiency (Clic here for more details about this article) |
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