Cases reported "Immune System Diseases"

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1/8. Immune thrombocytopenic purpura associated with brucella and toxoplasma infections.

    Bacterial and protozoal infections can cause thrombocytopenia and may mimic idiopathic thrombocytopenic purpura (ITP). brucella species and toxoplasma are among the infectious agents with protean clinical manifestations which may induce immune thrombocytopenia. In rare cases, thrombocytopenia can be severe and may result bleeding into the skin and from mucosal sites. Prompt recognition of this complication and aggressive therapy are essential, since the mortality associated with bleeding into the central nervous system is high. We report two patients with complaints of severe epistaxis and thrombocytopenia associated with brucellosis and toxoplasmosis. Thrombocytopenic purpura in these cases responded well to the high-dose corticosteroid treatment with platelet recovery within 2-3 days. For cases with infection-induced immune thrombocytopenic purpura, short-term high-dose corticosteroids may be applied as an urgent therapy without worsening of the clinical condition.
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keywords = nervous system
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2/8. A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.

    incontinentia pigmenti is an X-linked genodermatosis, lethal in males. Affected females survive because of X-chromosome dizygosity and negative selection of cells carrying the mutant X-chromosome, and for this reason the skewed X inactivation pattern is often used to confirm the diagnosis. The most frequent mutation is a deletion of part of the NEMO gene (NEMODelta4-10), although other mutations have been reported. Mutations of NEMO which do not abolish NF-kappaB activity totally permit male survival, causing an allelic variant of IP called hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). We present a non-classical IP female patient who also suffered transient immunodeficiency because of a late and progressive selection against peripheral blood cells carrying an active mutated X-chromosome. This finding suggests that in the absence of known mutation the X-inactivation studies used in genetic counselling can induce mistakes with some female patients. At the age of 3 years and 6 months, all immunodeficiency signs disappeared, and the X-chromosome inactivation pattern was completely skewed. The low T cell proliferation and CD40L expression corroborate the important role of NEMO/ NF-kappaB pathway in T cell homeostasis. The decreased NEMO protein amount and the impaired IkBalpha degradation suggest that this new mutation, NM_003639: c.1049dupA, causes rna or protein instability. To our knowledge, this is the first time that selection against the mutated X-chromosome in X-linked disease has been documented in vivo.
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ranking = 2.5861728606331
keywords = peripheral
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3/8. New methodologies. Their role in pediatric pathology.

    Recombinant dna technology is providing the means for early and specific etiologic diagnoses of infectious and immunologic diseases, replacing or complementing older methodologies. The new tools that have been so useful in detecting gene rearrangements in leukemias and lymphomas are being applied to the unresolved questions of embryogenesis and disorderly cell differentiation and are being used to completely re-map the nervous system. flow cytometry and cell sorting are becoming standard features of clinical laboratories and are instrumental not only in defining alterations in lymphoid cell populations but in examining cellular functions as well as surface markers. bone marrow and organ transplantation for genetic, metabolic, and neoplastic diseases will be performed much more effectively as these newer technologies are applied to the selection of compatible donors and to the follow-up of rejection and infectious complications.
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keywords = nervous system
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4/8. keratitis, ichthyosis, and deafness (KID) syndrome with cerebellar hypoplasia.

    A 6-year-old boy with features of the keratitis-ichthyosis-deafness (KID) syndrome and cerebellar hypoplasia is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of KID syndrome with cerebellar hypoplasia. This finding, together with neurosensory deafness and other neuromuscular defects, may suggest that there is an underlying inborn error of nervous system in the KID syndrome. in vitro immunologic studies in this patient also showed a possible deficit in cellular immunity.
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keywords = nervous system
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5/8. Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants.

    To analyze the structure of LH in three patients with immunologically anomalous LH, the whole coding region of the LH beta-subunit gene was examined. These patients were infertile, and their serum LH levels could not be measured with an immunoassay kit. immunoblotting of the LH beta-subunit showed no marked changes in the molecular size of LH beta. Genomic dna was extracted from peripheral lymphocytes of the patients and normal controls, and LH beta genes were amplified by the polymerase chain reaction technique, using primer pairs that are capable of specifically amplifying only the LH beta gene without interference by the CG beta genes. No deletions were observed in the coding regions of the LH beta gene of the patients. Nucleotide sequencing revealed two nucleotide substitutions in the LH beta gene of the patients, which cause amino acid replacements from Trp8 (TGG) to Arg8 (CGG) and Ile15 (ATC) to Thr15 (ACC). Restriction fragment length polymorphism analysis in three families indicated that the affected probands were homozygous, and their family members were heterozygous, except for their husbands. The heterozygotes showed reduced detectability with the LH immunoassay kit. These results suggest that these amino acid replacements are responsible for this immunologically anomalous variant.
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ranking = 2.5861728606331
keywords = peripheral
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6/8. Griscelli's syndrome: clinical features of three siblings.

    Three siblings diagnosed as having Griscelli's syndrome (GS) are presented. The clinical features were partial albinism, silvery hair and absence of giant granules in the white blood cells. The diagnosis of GS was confirmed intra-vitam in the youngest sibling (propositis) at the age of nine months by the demonstration of irregular clumps of pigment in the hair shaft, and in particular melanocytes engorged with melanosomes in the skin biopsy, findings characteristic of this syndrome. A retrospective diagnosis of GS was made in the older two siblings. The first sibling died at the age of two, having a clinical picture suggestive of bulbar poliomyelitis. However, no tissue was available for histopathologic examination. The second sibling developed fever, jaundice, seizure, hepatosplenomegaly and lymphadenopathy and died at the age of six. Postmortem examination of this sibling revealed lymphohistiocytosis in the liver and spleen. The propositus died at the age of five following development of central nervous system involvement. Immunologic studies were not available in the first sibling. The IgG level was slightly low and the T-lymphocyte number was normal in the second sibling. The propositus had normal serum immunoglobulin levels and T-cell numbers and skin tests were positive with phytohemagglutinin and candida.
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keywords = nervous system
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7/8. immunoblastic lymphadenopathy: case report and literature review.

    A patient with immunoblastic lymphadenopathy (IL) had an unusual course of illness, with frequent episodes, over a 20-month period, of chills, fever, abdominal pain, hepatosplenomegaly and weight loss. The episodes were short-lived and many resolved spontaneously. Eventually generalized lymphadenopathy and profound monoclonal IgG gammopathy developed, with atypical mononuclear cells in the peripheral blood and increased numbers of plasmacytoid cells in the bone marrow. Lymph node biopsy revealed the morphologic triad typical of IL: proliferation immunoblasts, proliferation of small blood vessels and the deposit of an amorphous acidophillic material in the vascular walls and the interstitium. Up to October 1976 110 cases had been reported of this disorder, first described 3 years ago, which indicates that IL is not rare. Remissions have occurred spontaneously and after steroid therapy or chemotherapy or both. However, death has been reported in almost 50% of the cases, and the best approach to therapy remains to be determined.
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ranking = 2.5861728606331
keywords = peripheral
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8/8. Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor.

    Profound cellular immunodeficiency occurs as the result of mutations in proteins involved in both the differentiation and function of mature lymphoid cells. We describe here a novel human immune aberration arising from a truncation mutation of the interleukin-2 receptor alpha chain (CD25), a subunit of the tripartite high-affinity receptor for interleukin 2. This immunodeficiency is characterized by decreased numbers of peripheral T cells displaying abnormal proliferation but normal B cell development. Extensive lymphocytic infiltration of tissues, including lung, liver, gut, and bone, is observed, accompanied by tissue atrophy and inflammation. Although mature T cells are present, the absence of CD25 does affect the differentiation of thymocytes. While displaying normal development of CD2, CD3, CD4, and CD8 expression, CD25-deficient cortical thymocytes do not express CD1, and furthermore they fail to normally down-regulate levels of the anti-apoptotic protein bcl-2.
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ranking = 2.5861728606331
keywords = peripheral
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