1/83. 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 = deficiency (Clic here for more details about this article) |
2/83. 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 = deficiency (Clic here for more details about this article) |
3/83. 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 = 3.6666666666667keywords = deficiency (Clic here for more details about this article) |
4/83. Th1 and Th2 cytokines in a patient with Evans' syndrome and profound lymphopenia.A case of Evans' syndrome with IgM deficiency and lymphopenia was studied before and after splenectomy. The lymphopenia was as a result of profound reduction of CD4 and CD8 cells. Study of cytokine secretion before splenectomy revealed a spontaneous Th1- and Th2-type cytokine production, and complete suppression of transforming growth factor (TGF)-beta. After splenectomy, the patient achieved clinical remission, the natural killer (NK) cell number increased and the pattern of cytokine production showed normalization of interleukin (IL)-2, IL-4, IL-10, TGF-beta and abolition of interferon (IFN)-gamma production. We conclude that splenectomy had a beneficial effect owing to an increase in NK cells and an associated increase in TGF-beta production.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
5/83. 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 = deficiency (Clic here for more details about this article) |
6/83. 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 = deficiency (Clic here for more details about this article) |
7/83. 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 = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
8/83. 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 = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
9/83. 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 = deficiency (Clic here for more details about this article) |
10/83. 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 = 1keywords = deficiency (Clic here for more details about this article) |
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