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)

It is shown that patients suffering from eczema, atopic dermatitis and psoriasis demonstrate immunologic shifts related to genetic predisposition to allergic (atopic and autoimmune) responses, specific skin responses, clinical features of dermatoses, reactivity of the affected connective tissue. Immune defects of the above patients suggest a drop in T-lymphocyte count and T-suppressor dysfunction, i.e. T-cell immunodeficiency. This indicates possible benefit of pharmacological immunomodulators scheduled on the basis of pathogenetic characteristics of each variant of dermatosis and of dermal inflammation.
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PMID:[Disorders of T-cell immunity in patients with eczema, atopic dermatitis and psoriasis]. 183 23

Congenital thrombocytopenia may occur in isolation or accompanied by eczema and immunodeficiency, as part of the X-linked hereditary Wiskott-Aldrich syndrome (WAS). Because the clinical and immunologic picture of WAS is variable, particularly early in life, definite diagnosis cannot always be made in cases with a negative family history. Two unrelated males with sporadic congenital thrombocytopenia had only questionable immunologic abnormalities as infants, making them clinically indistinguishable from cases of isolated thrombocytopenia, although one developed episodic neutropenia and the other began to manifest a multisystem autoimmune disease at 2 years of age. Evaluation of X chromosome inactivation in the T cells of both patients' mothers showed each of these women to have the same highly skewed X chromosome inactivation pattern seen in carriers of typical familial WAS. A T-cell defect was subsequently directly demonstrated in the second patient, whose lymphocytes failed to proliferate to periodate and anti-CD43. Taken together, these data suggest the presence of T cell immunodeficiency consistent with WAS in these patients. Furthermore, their mothers were found to have a very high likelihood of being carriers, lending support to the diagnosis of a hereditary disease in these boys and making possible genetic prediction in other family members and subsequent pregnancies.
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PMID:Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation. 199 98

The X chromosome-linked scurfy (sf) mutant of the mouse is recognized by the scaliness of the skin from which the name is derived and results in death of affected males at about 3-4 weeks of age. Consideration of known man-mouse homologies of the X chromosome prompted hematological studies, which have shown that the blood is highly abnormal. The platelet and erythrocyte counts are both reduced and become progressively lower relative to normal as the disease progresses. There is gastrointestinal bleeding, and most animals appear to die of severe anemia. By contrast, the leukocyte count is consistently raised. Some animals showed signs of infection but it is not yet clear whether there is immunodeficiency. Other features include the scaly skin and apparently reduced lateral growth of the skin, conjunctivitis, and diarrhea in some animals. The mutant resembles Wiskott-Aldrich syndrome in man, which is characterized by thrombocytopenia, eczema, diarrhea, and immunodeficiency. The loci of the human and mouse genes lie in homologous segments of the X chromosome, although apparently in somewhat different positions relative to other gene loci. Scurfy differs from Wiskott-Aldrich syndrome in that scurfy males are consistently hypogonadal.
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PMID:The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome. 232 May 65

The authors report a case of a 20-year old woman, with all the characteristics of the Wiskott-Aldrich-syndrome. The main signs of the disease were recurrent infections, eczema, thrombocytopenia and mild mucosal bleeding. The size of platelets was reduced. Storage pool disease was based on the abnormal platelet aggregation and the lack of dense bodies shown by electronmicroscopic examination. The disturbances of the lymphocytes, neutrophils and monocytes, which resulted in immunodeficiency, could be proven by the immunological tests. This X-linked recessive disorder appeared with typical signs in a heterozygous carrier woman. According to our knowledge, no similar case has been reported before.
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PMID:[Wiskott-Aldrich syndrome in a hetrozygous woman]. 265 54

Two brothers presented with unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. They both developed eczema in infancy and have had recurrent infections. Additional physical findings in both boys included hypogonadism, flexion contractures, hypoplastic patellae, and scoliosis. Their facial similarity was striking with sloping foreheads, beaked noses, large, protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were present in both boys in infancy. The hypogammaglobulinaemia was transient and improved, reaching normal levels by 3 1/2 years and 15 months, respectively. Defective chemotaxis and recurrent infections have persisted to the present. Both parents were normal. The mode of inheritance was not clear, as both X linked and autosomal recessive patterns were possible. Although patients with congenital malformations who also had immunodeficiency have previously been reported, immune system abnormalities, especially those of a transient nature, may frequently go unrecognised.
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PMID:Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers. 374 38

Skin fibroblasts were cultured from 15 patients with primary immunodeficiency diseases associated with a high cancer risk, including sex-linked agammaglobulinemia, IgA deficiency, variable immunodeficiency, ataxia-telangiectasia (cerebellar malfunction and abnormalities of blood vessels and immune response), Wiskott-Aldrich syndrome (low platelet count, eczema, and abnormal immune mechanism), and severe combined system (cellular and humoral) immunodeficiency. Fourteen of 15 cell strains were found to have low or regular susceptibility to transformation with the tumor virus, simian virus 40. The data are consistent with the view that the frequent occurrence of malignancy in patients with primary immunodeficiency is due to abnormalities of the immunologic surveillance mechanism.
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PMID:Susceptibility of cells from patients with primary immunodeficiency diseases to transformation by simian virus 40. 411 42

This study presents a 12-year-old girl with Wiskott-Aldrich syndrome variant, who developed acute glomerulonephritis without history of transfer factor therapy and the efficacy of splenectomy for the control of the patient's thrombocytopenia. The patient presented with eczema, severe thrombocytopenia and immunodeficiency. The impaired immunity was featured by impaired delayed hypersensitivity and lymphoproliferative response to nonspecific mitogen, low serum IgM, low isohaemagglutinins, recurrent infections and high IgE. She developed hematuria about one month prior to admission. For her severe thrombocytopenia splenectomy was performed and proved to be effective. At the time of splenectomy, renal biopsy was done and showed proliferative glomerulonephritis with coarse granular deposition of immunoglobulins (IgA and IgM) and C3. Electron microscopy demonstrated granular electron-dense deposits in the glomerulus, indicating an immune complex glomerulonephritis.
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PMID:Acute immune complex mediated glomerulonephritis in a Chinese girl with Wiskott-Aldrich syndrome variant. 637 82

We herein describe the first French case of successful bone marrow transplantation (BMT) in a patient with the Wiskott-Aldrich syndrome. Although the patient required hospitalization for a total of one year during his first 4 years of life for bleeding, eczema, protracted diarrhea and multiple infections, the bone marrow transplantation has permitted a complete and stable correction of the thrombocytopenia, the eczema and the immunodeficiency. The patient was prepared by a total body irradiation (850 rads) with a partial lung shielding and anti-lymphocyte globulins. The BMT was immediately followed by a severe but transient herpetic infection and acute graft versus host reaction (grade II) which resolved after steroid therapy. The thrombocytopenia disappeared 3 months after the BMT. The infections and the eczema did not reappear. Immune functions are entirely normal and all blood cells have been shown to be of donor origin (the sister of the recipient). The boy is growing normally and is doing well 3 1/2 years thereafter. He only suffered from bilateral cataracts secondary to the irradiation requiring lens extraction. One can now expect a success rate of 75% in bone marrow transplantation in patients with Wiskott-Aldrich syndrome as evaluated from a world review. In contrast, symptomatic treatment of the disease leads to a mean survival of 7 years, survival rarely exceeding 18 years.
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PMID:[Treatment of the Wiskott-Aldrich syndrome by a graft of allogeneic bone marrow]. 639 14

The Wiskott-Aldrich syndrome is an X-linked immunodeficiency disorder consisting of the triad of frequent infections, eczema, and profound thrombocytopenia. We evaluated the effects of splenectomy on hemostatic improvement and subsequent clinical course in 16 patients with the Wiskott-Aldrich syndrome. All 16 had an increase in platelet counts to at least 100,000 per cubic millimeter after splenectomy, with the mean increasing from 19,900 per cubic millimeter preoperatively to 262,700 per cubic millimeter after splenectomy. In addition, platelet size, which is characteristically small in this disease, also became normal. Survival after splenectomy correlated with the prophylactic use of antibiotics. Five of seven patients not taking prophylactic antibiotics died of sepis within 33 months of surgery. The mean survival of the nine patients maintained with prophylactic antibiotics, however, was at least 91.4 months, with six of these patients still alive an average of 11.0 years or more after splenectomy. Thus, splenectomy is a useful therapy for a major cause of morbidity and mortality in this complex syndrome.
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PMID:Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome. 676 87

This report is of seven-year-old girl with a lifelong history of severe eczema, intestinal features of food allergy, recurrent respiratory tract infections, chronic bilateral keratitis and mucocutaneous candidiasis. Immunological tests showed high serum IgE levels, with specific IgE antibodies to cow's milk and egg white, defective PMN chemotaxis and a marked defect in both the function and number of T-lymphocytes. On a cow's milk-free and egg-free diet the eczema subsided and the respiratory infections improved. A partial correction of the immunodeficiency was also observed. The relationships between the immune system and atopy are discussed.
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PMID:A case of hyperimmunoglobulinemia E treated with cow's milk and egg-free diet. 711 89


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