Cases reported "Agammaglobulinemia"

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1/239. X-linked agammaglobulinemia and isolated growth hormone deficiency.

    X-linked agammaglobulinemia and isolated growth hormone deficiency was first described in 1980 and then classified as a different primary immune deficiency. Delayed puberty in patients with X-linked agammaglobulinemia may result in delayed secretion of growth hormone (GH). To determine true isolated growth hormone deficiency. GH stimulation tests and other hypophyseal hormone evaluations must be performed. In this paper, we report a 15-year-old boy with X-linked agammaglobulinemia and isolated growth hormone deficiency, and review related literature.
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2/239. Subacute painful lumbosacral polyradiculoneuropathy in immunocompromised patients.

    The syndrome of inflammatory subacute lumbosacral polyradiculoneuropathy (SLP) has been reported in acquired immunodeficiency syndrome (AIDS) patients in association with cytomegalovirus infection and is only partially amenable to anti-viral therapy. We report three cases of relatively benign inflammatory painful SLP in two non-AIDS, immunosuppressed patients and one who hiv-seroconversed at the time of clinical presentation. SLP developed: (1) in association with hiv seroconversion; (2) during ECHO virus infection in a patient with common variable immune deficiency; and (3) after a severe systemic infection that induced transient immunosuppression due to Epstein-Barr virus reactivation. This report expands the spectrum of viruses associated with acute and subacute lumbosacral polyradiculoneuropathy and may shed light on its possible pathogenesis.
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ranking = 0.25
keywords = deficiency
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3/239. A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia.

    We describe a female infant with a combination of very short stature, severe eczema and igg deficiency causing recurrent infections in infancy. The radiological features of this condition are presented in the neonatal period, at the age of 5 months and at 2 years and 6 months. We propose that this condition is a previously undescribed type of spondyloepimetaphyseal dysplasia.
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ranking = 0.125
keywords = deficiency
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4/239. Atypical X-linked agammaglobulinemia diagnosed in three adults.

    OBJECT: X-linked agammaglobulinemia (XLA) is one of the most common humoral immunodeficiencies characterized from childhood by the absence of peripheral B lymphocytes, reduced levels of serum immunoglobulins and recurrent and severe bacterial infections. These characteristics are the result of Bruton's tyrosine kinase (Btk) protein deficiency in peripheral B lymphocytes. In addition to typical XLA, several atypical cases have been recognized, who exhibited mild or even no clinical symptoms, although they were definitely deficient in Btk protein (atypical XLA). In these patients peripheral B lymphocytes and serum immunoglobulins (Igs) are detectable though at a lower level than in normal people. To clarify the discrepancies between the Btk gene mutations and the phenotypes more atypical patients should be examined. In this study we evaluated the cytoplasmic Btk protein in peripheral monocytes of some hypogammaglobulinemia adults by means of flowcytometric analysis. MATERIALS AND methods: Heparinized venous blood samples were collected from some hypogammaglobulinemia adults. Mononuclear cells were separated from their blood and first reacted with a phycoerythrin-labeled CD14 monoclonal antibody (MoAb) (staining of monocyte membrane). Next, the cells were fixed and permeabilized. And then these permeabilized cells were reacted with an anti-Btk MoAb (staining of cytoplasmic Btk protein) and incubated with a FITC-conjugated goat antimouse IgG1. The double-stained cells were analyzed on a flowcytometer. RESULTS AND CONCLUSION: By means of flowcytometric analysis we diagnosed three hypogammaglobulinemia adults as XLA, who did not show typical clinical progress of XLA. Advancements in diagnostic methods has facilitated a prompt and definite diagnosis of this disease.
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ranking = 0.125
keywords = deficiency
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5/239. Bilateral consecutive central corneal perforations associated with hypogammaglobulinemia.

    OBJECTIVE: To describe the presentation and the clinical course of a patient with consecutive central sterile corneal perforations associated with common variable immunodeficiency. DESIGN: Case report. methods: Multiple corneal cultures and scrapings were performed in an effort to identify an infectious cause and all were negative. Corneal biopsy did not demonstrate any evidence of micro-organisms. An extended investigation failed to uncover a collagen vascular cause or atopy. RESULTS: Progressive sterile stromal thinning with intact epithelium in the left eye proceeded to perforation despite topical treatment, and cyanoacrylate gluing was performed. However, a secondary haemophilus influenza endophthalmitis developed, and the eye was eventually lost. The fellow eye proceeded along the same clinical course with sterile stromal thinning. A lamellar patch graft was performed when the central ulceration progressed to a descemetocele. The eye remained quiet with 20/25 vision for 2 years, until the patient died from complications of a liver transplant. CONCLUSIONS: Devastating central sterile corneal thinning leading to perforation may occur in patients with hypogammaglobulinemia.
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ranking = 0.15252863083785
keywords = deficiency, iga
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6/239. 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.
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ranking = 0.52752863083785
keywords = deficiency, iga
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7/239. A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia.

    We report a new complex syndrome involving profound failure to thrive with severe intrauterine growth retardation, cerebellar abnormalities, microcephaly, a complete lack of B lymphocyte development, and secondary, progressive marrow aplasia. B cell differentiation was found to be blocked at the pro-B cell stage. Although not strictly proven, a genetic origin is likely, according to similar cases reported in the literature. Three candidate genes, PAX5, encoding B cell-specific activator protein, a factor involved in B cell lineage commitment, stromal cell-derived factor 1, and CXCR4, encoding a chemokine and its receptor, respectively, were thought to be responsible for this disease, given the similarity between the phenotype of the corresponding knock-out mice and the clinical features of the patient. However, the genomic dna sequences of these 3 genes were normal, and normal amounts of stromal cell-derived factor 1 and CXCR4 were present. These data strongly suggest that another molecule is involved in early B cell differentiation, hematopoiesis, and cerebellar development in humans.
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ranking = 0.5
keywords = deficiency
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8/239. sarcoidosis and common variable immunodeficiency. A case of a malignant course of sarcoidosis in conjunction with severe impairment of the cellular and humoral immune system.

    The occurrence of sarcoidosis in combination with common variable immunodeficiency (CVID) has been described in a small number of patients. In these patients, sarcoidosis consisted of lymphadenopathy, mild to moderate pulmonary involvement and hepatosplenomegaly. However, severe and rapidly progressive pulmonary fibrosis in combination with a severe defect of the cellular and humoral immune system has not been described yet. In our patient, defects of the T and B cell system resulted in severe immunodeficiency. The defect of the humoral immune system was characterized by the impairment of specific antibody production in vivo. In addition, hypogammaglobulinemia with missing IgA and IgE along with a marked defect in IgM and IgG production was noted. There was a progressively reduced lymphocyte proliferation in response to T cell mitogens, while proliferation after specific IL-2 stimulation was normal. A Th1 lymphocyte-subset-like profile might thus play a role in the pathogenesis and might form the connecting link between sarcoidosis and CVID. This is the report of a so far new and unique combination of severe immunodeficiency and sarcoidosis also associated with a congenital dysmorphia consisting of a palatal cleft. The findings of the 40 patients with CVID and sarcoidosis reported so far are discussed in order to point out the typical features of patients with this uncommon syndrome.
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ranking = 0.875
keywords = deficiency
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9/239. Generalized warts and immune deficiency.

    A case of common variable hypogammaglobulinaemia with associated impairment of cell mediated immunity and severe wart virus infection is described. The defect of cell mediated immunity is thought to have predisposed this patient to the development of persistent wart infection which in turn grossly depressed the body's cellular immunity and thus allowed widespread dissemination of the warts. The rapid restoration of cell mediated immunity which followed the reduction in the antigenic load of wart virus by diathermy treatment was followed by the spontaneous regression of all the patient's warts. This unusual case may provide some insight into the complex relationship between wart virus infection and the immune system of the host.
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ranking = 0.5
keywords = deficiency
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10/239. 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.
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ranking = 0.27752863083785
keywords = deficiency, iga
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