Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Here we present the case of a patient affected with a unique association of Sweet's syndrome, idiopathic myelofibrosis, spindle-cell thymoma, myasthenia gravis and Good's syndrome (a rare form of thymoma-related, combined immunodeficiency presenting with recurrent respiratory infections). Conventional therapies (corticosteroids, colchicine, DDS, clofazimine) were ineffective or were contraindicated. Treatment with etretinate (50 mg/day) proved effective on skin lesions. Moreover, the patient's general condition unexpectedly improved, with long-lasting (11 months) suppression of respiratory infections and a slight but consistent improvement of hematological parameters such as Hct, MCV, Hb level, RBC, WBC and lymphocyte absolute counts.
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PMID:Sweet's syndrome in a patient with idiopathic myelofibrosis and thymoma-myasthenia gravis-immunodeficiency complex: efficacy of treatment with etretinate. 890 Aug 54

A coding region homologous to the sequence for essential eukaryotic enzyme dUTPase has been identified in different genomic regions of several viral lineages. Unlike the nonprimate lentiviruses (caprine arthritis- encephalitis virus, equine infectious anemia virus, feline immunodeficiency virus, and visna virus), where dUTPase is integrated into the pol coding region, this enzyme has never been demonstrated to be present in the primate lentivirus genomes (human immunodeficiency virus type 1 [HIV-1], HIV-2, or the related simian immunodeficiency virus). A novel approach allowed us to identify a weak but significant sequence similarity between HIV-1 gp120 and the human dUTPase. This finding was then extended to all of the primate lentivirus lineages. Together with the recently reported fragmentary structural similarity between the V3 loop region and the Escherichia coli dUTPase (P. D. Kwong, R. Wyatt, J. Robinson, R. W. Sweet, J. Sodroski, and W. A. Hendrickson, Nature 393:648-659, 1998), our results strongly suggest that an ancestral dUTPase gene has evolved into the present primate lentivirus CD4 and cytokine receptor interacting region of gp120.
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PMID:"Hidden" dUTPase sequence in human immunodeficiency virus type 1 gp120. 984 82

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.
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PMID:Persistent Sweet's syndrome occurring in a child with a primary immunodeficiency. 1032 30

Disseminated infection due to rapidly growing mycobacteria is uncommon and occurs mostly in immunocompromised patients. We report 16 cases of such infection with an unusual presentation seen at Srinagarind Hospital, a university hospital in northeastern Thailand. The clinical features were different from those in previous reports. All of the patients presented with chronic bilateral cervical lymphadenopathy. Twelve had mycobacterial involvement of other organs (sinuses, 6 patients; lungs, 4; liver, 4; spleen, 3; skin, 3; bone and joint, 2; and tonsils, 2). An interesting occurrence in 11 patients was 14 episodes of reactive skin manifestations (Sweet's syndrome, 9; generalized pustulosis and erythema nodosum, 2 each; and pustular psoriasis, 1). No identifiable predisposing factors, including human immunodeficiency disease, were found in these patients. However, 8 patients had 11 episodes of prior infection or coinfection with other opportunistic pathogens (salmonellosis, 4; penicilliosis, 3; pulmonary tuberculosis, 2; and melioidosis and cryptococcosis, 1 each). These findings suggest that cell-mediated immunity is defective in these patients.
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PMID:Disseminated infection due to rapidly growing mycobacteria in immunocompetent hosts presenting with chronic lymphadenopathy: a previously unrecognized clinical entity. 1117 Sep 51

Allogeneic haematopoietic stem cell transplantation (i.e. bone marrow or peripheral blood stem cell transplantation) is a common procedure in the treatment of various haematological disorders such as aplastic anaemia, (pre)leukaemias, some malignant lymphomas, multiple myeloma and immunodeficiency states. Many of these patients develop erythematous skin lesions following transplantation. Although graft- versus-host disease is the major differential diagnosis in these situations, many other causes of erythema are encountered. The large number of transplant patients means that more and more pathologists are confronted with the challenging problem of making a correct diagnosis in these situations. In this review article we therefore describe the different causes of erythema and their differential diagnoses. In most cases the clinical presentation is related to the microscopical features. Besides acute and chronic graft-versus-host disease, we discuss the (common) drug reactions and non-specific features such as Sweet's syndrome, erythema nodosum and eosinophilic folliculitis. In addition, we deal with the recurrence of original diseases and infections. With this knowledge every pathologist should feel comfortable when looking at skin biopsies of patients after haematological stem cell transplantation.
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PMID:Differential diagnosis of skin lesions after allogeneic haematopoietic stem cell transplantation. 1265 43

Painful erythematous plaques and a pathognomonic, dense, dermal infiltrate of neutrophils characterize Sweet syndrome. Although numerous instances of this disease have been reported in children, only four have had an associated immunodeficiency to date. Sweet syndrome has been traditionally treated with systemic corticosteroids despite an unknown pathogenesis. Prior reports suggest that immunodeficient children with Sweet syndrome may have a persistent course and fail to respond to standard treatment. We describe a child with debilitating Sweet syndrome and a primary immunodeficiency whose symptoms were controlled with intravenous immunoglobulin and dapsone.
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PMID:Pediatric Sweet syndrome and immunodeficiency successfully treated with intravenous immunoglobulin. 1635 55

Atopy, immunodeficiency and autoimmunity are manifestations of immune system dysfunction. Classically atopy and autoimmunity are referred as distinct immunological reactions. Recent studies suggest the existence of common pathogenic mechanisms. We report the case of a teenager with familial history of asthma and miasthenia gravis in her mother (HLA- B8+) and personal history of recurrent upper respiratory infections from two to four years old, and pneumonia since five years old (3 or 4 episodes/ year, in three consecutive years), with associated dyspnoea and hypoxemia, requiring frequently hospital admission. Investigation was initially negative for atopy markers, and excluded other hypothesis as tuberculosis, cystic fibrosis, -1 antitrypsin deficiency, congenital heart disease, bronchopulmonary malformations or foreign body aspiration. Latter, further exams finally confirmed atopy with a raised IgE, positive RAST and cutaneous sensitivity tests (for house dust mites and pollen) and revealed circulating immune complexes and IgG 2, 3 e 4 deficit. Most frequent autoantibodies and precipitins study were negative, and histocompatibility antigens study revealed HLA- B8 (as her mother). Ventilation-perfusion scintigraphy and respiratory function tests were normal. Antihistamines, topical corticoids and bronchodilators were done with an excellent clinical response. At 16 years- old she is admitted again with the diagnosis of erythema nodosum and the clinical suspicion of Sweet's syndrome, having a good evolution. The relation between atopy and autoimmunity is enfatized by the authors. This simultaneous occurrence does not correspond merely to a statistical association, but may represent a global immune system impairment, with the involvement of different types of hypersensibility.
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PMID:[Atopy and autoimmunity -- a case report]. 1796 91

Sweet's syndrome (SS), a rare reactive neutrophilic dermatosis, has been reported to occur in association with a variety of systemic disorders, categorized by von den Diesch into idiopathic, paraneoplastic, pregnancy and parainflammatory subgroups. The parainflammatory group has been well defined, and includes a wide spectrum of infectious triggers and disorders of immune dysregulation. To date, however, no cases of SS have been described in the context of common variable immunodeficiency (CVID). We report a case of paediatric-onset SS, previously reported as idiopathic, with a subsequent diagnosis of CVID.
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PMID:Sweet's syndrome in association with common variable immunodeficiency. 1878 23

IL-2 is a key cytokine in cell-mediated immunity and currently is used in clinical trials as immunologic therapy in human immunodeficiency virus (HIV)-positive patients. Although cutaneous reactions to IL-2 therapy are common, bullous reactions are rare. We report a case of an HIV-positive patient who received multiple cycles of IL-2 therapy and developed a bullous eruption soon after each cycle was initiated. Pathology results from 2 separate outbreaks revealed a diffuse dermal neutrophilic infiltrate with leukocytoclasis. Epidermal spongiosis and focal intraepidermal vesiculation also were present. The patient discontinued IL-2 therapy but restarted 5 years later, at which time he presented with a pseudolymphomatous reaction that resolved after discontinuation of therapy. This patient is an unusual case of 2 different eruptions--Sweet's syndrome and pseudolymphoma-precipitated by IL-2 therapy in the same patient. Cutaneous eruptions to IL-2 therapy also are reviewed.
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PMID:Bullous Sweet's syndrome and pseudolymphoma precipitated by IL-2 therapy. 2048 62

Sweet syndrome, or acute febrile neutrophilic dermatosis, is characterized by the presence of fever, peripheral leukocytosis, painful erythematous plaques and nodules, and a predominately neutrophilic dermal infiltrate. We report a case occurring in a 10-week-old male child, with preceding upper respiratory tract, and gastrointestinal infection symptoms. Sweet syndrome occurring in an infant should prompt a work-up for immunodeficiency, as well as a review of the peripheral blood smear to rule out the rare case of malignancy.
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PMID:Sweet syndrome in infancy. 2053 82


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