11/226. ad and ay subtypes of hepatitis b antigen in a case of hypogammaglobulinaemia.We describe the finding of d and y specificities of hepatitis b surface antigen (HBsAg) in a case of hypogammaglobulinaemia of the 'common variable' type treated with fresh frozen plasma infusions. absorption studies show that the two specificities are on separate particles, suggesting dual infection. It raises important questions regarding the relationship between HBsAg persistence and the immune status of the carrier.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
12/226. A case of recurrent pneumonias.A description is given of the case of a young boy who presented with repeated episodes of pneumonias since childhood. In addition, he had episodes of intermittent diarrhoeas. His investigative work-up revealed a deficiency of serum immunoglobulins, that is, hypogammaglobulinaemia. The profile was suggestive of common variable immunodeficiency. Because of the relative rarity of this disease, it is often missed leading to significant morbidity. Treatment consists of immunoglobulin replacement therapy and management of recurrent infections with appropriate drugs.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
13/226. Gastric adenocarcinoma in a patient with X-linked agammaglobulinaemia.patients with primary immunodeficiencies are at high risk for developing haematological malignancies and, to a lesser degree, carcinoma. We report a patient with ascertained X-linked agammaglobulinaemia who developed a gastric carcinoma involving the distal part of the stomach associated with chronic atrophic gastritis and intestinal metaplasia. These latter conditions are considered to be precursor conditions and the role of chronic infections is likely. patients with X-linked agammaglobulinaemia, as with other primary immunodeficiencies, could benefit from regular gastrointestinal evaluation, leading to early diagnosis and treatment of carcinoma.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
14/226. 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 = 2keywords = infection (Clic here for more details about this article) |
15/226. 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) |
16/226. bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to Flexispira/helicobacter species.Two patients with Bruton's X-linked agammaglobulinemia are described with bacteremia and skin/bone infection due to an organism which by 16S rRNA gene sequence analysis was most closely related to "Flexispira" rappini (and thus designated a Flexispira-like organism, FLO) and more distantly related to the helicobacter species. The organism required microaerobic conditions and, supplemental H(2) gas for growth and was reliably stained with acridine orange. In common with helicobacter cinaedi infections, the focus of the FLO infection was in one case in the blood vessels or lymphatics of an extremity and in the other case in the skin and adjacent bone of an extremity. In both cases, prolonged IV antibiotic therapy was necessary to clear the infection. The susceptibility of XLA patients to FLO infection appears to be related to the fact that XLA is associated with severe B cell (humoral) immunodeficiency and thus these patients have difficulty with intravascular or intralymphatic infection. These findings elucidate the nature of FLO infections in humans and point the way to their detection and treatment.- - - - - - - - - - ranking = 11keywords = infection (Clic here for more details about this article) |
17/226. Septic candidasis with intrahepatic cholestasis and immunoglobuline deficiency after renal transplantation.Two renal allograft recipients with acquired immunoglobulin deficiency had a disseminated infection with candida albicans. Septic fever, intrahepatic cholestasis and pulmonary mycotic disease were the prominent clinical symptoms. recurrence of septic fever during the clinical course was associated with increase of intrahepatic cholestasis. On the other hand there was an amelioration of cholestasis when effective antimycotic therapy was instituted. In our patients there was no evidence that intrahepatic cholestasis was drug-related. It was assumed that toxic metabolits of candida albicans were responsible for intrahepatic cholestasis.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
18/226. B-cell lymphoma in a patient with WHIM syndrome.WHIM syndrome is a rare congenital familial syndrome consisting of warts, hypogammaglobulinemia, infections, and myelokathexis. We describe a 30-year-old man with WHIM syndrome, in whom red dermal facial nodules developed. The diagnosis of B-cell lymphoma was established with biopsy and immunohistochemical studies. To our knowledge, this is the first reported case of WHIM syndrome complicated by a B-cell lymphoma.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
19/226. Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypoplastic labia minora. Radiographic findings include triphalangeal thumbs and hypoplastic first metatarsals. She has postnatal growth retardation and her development is substantially slower than her twin's. Her clinical course has been complicated by recurrent sinopulmonary infections and pneumococcal bacteraemia. Laboratory evaluation revealed hypogammaglobulinaemia, absent B cells, and a 46,XX karyotype. A review of the literature and the london Dysmorphology database did not produce any recognizable syndromes that match her constellation of findings. She may represent a unique syndrome of unknown etiology.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
20/226. 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) |
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