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PubMed1972

[Fructose intolerance].

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Carbohydrate Metabolism, Inborn Errors↗
PubMed1993

[Chronic viral hepatitis: current diagnosis and therapy].

Viral infections are major causes of chronic liver diseases. The etiologic agents are hepatitis B virus (HBV), the HBV-associated hepatitis delta virus (HDV) and hepatitis C (HCV). In general, these viral infections can be specifically identified by serological tests and molecular techniques. The identification of the causative agents is clinically relevant both for epidemiologic-preventive and therapeutic considerations. The therapy of choice for chronic viral hepatitis B or C is interferon-alfa (10 mill units 3x per week for about 6 months). The long-term response rate is 30 to 40% for chronic hepatitis B and 20 to 30% for chronic hepatitis C. The results for chronic hepatitis D are controversial at present. Based on these results, therapeutic strategies have to be modified and improved further. Apart from therapeutic considerations, measures to prevent viral hepatitides should be carefully implemented (HBV vaccination of individuals at risk, reduction of blood transfusions, general hygienic measures), in order to reduce the morbidity and mortality from acute and chronic hepatitis, including liver cirrhosis and hepatocellular carcinoma.

Antiviral Agents↗
PubMed1985

Immunodeficiencies associated with errors in purine metabolism.

The genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase lead to blocks in the purine pathway. The intracellular accumulation of deoxynucleosides and deoxynucleotides is toxic to both dividing and nondividing lymphocytes via multiple mechanisms. T-lymphocytes are uniquely sensitive to purine-mediated cytotoxicity because of a functional imbalance of phosphorylating and dephosphorylating enzymatic activities. These inborn errors or purine metabolism are rare disorders. The study of these conditions, however, has uncovered unique enzymatic properties of lymphocytes and lymphocyte subclasses. A better understanding of the mechanisms of lymphocytotoxicity in these two purine enzyme defects may lead to better modes of therapeutic manipulation of the immune system.

Adenosine Deaminase↗
PubMed1991

Skin manifestations of biotin deficiency.

This article reviews current knowledge concerning the dermatologic manifestations of biotin deficiency. Biotin is a water-soluble vitamin that acts as an essential cofactor for four carboxylases, each of which catalyzes an essential step in intermediary metabolism. For example, acetyl-CoA carboxylase catalyzes the rate-limiting step in fatty acid elongation. In infants, children, and adults, deficiency of biotin causes alopecia and a characteristic scaly, erythematous dermatitis distributed around body orifices. The rash closely resembles that of zinc deficiency. Candida albicans often can be cultured from the skin lesions. Biotinidase deficiency, an inborn error, causes biotin deficiency, probably as a consequence of unpaired intestinal absorption, cellular salvage, and renal reclamation of biotin; biotinidase deficiency causes dermatologic manifestations similar to biotin deficiency. There is evidence that impaired fatty acid metabolism secondary to reduced activities of the biotin-dependent carboxylases (especially acetyl-CoA carboxylase) plays an etiologic role in the dermatologic manifestations of biotin deficiency. Candida infections secondary to impaired immune function might also contribute to the dermatitis of biotin deficiency.

Adult↗
PubMed2005

IL-7 and IL-15: therapeutic cytokines for immunodeficiency.

Immunodeficiency due to inborn errors, infections, autoimmune diseases and the toxicity of certain therapies, has become an important clinical challenge. Strategies to enhance immune function could improve the outcome for a considerable number of patients. Although myeloid growth factors have found widespread use in clinical medicine, a 'lymphoid growth factor' has not yet been established in clinical use. Several recent studies have proposed two candidate immunostimulatory cytokines: interleukin-7 (IL-7) and IL-15. In this Review, we discuss recent findings regarding the effects of IL-7 and IL-15 on lymphopoiesis and their potential use for the treatment of immunodeficiency.

Acquired Immunodeficiency Syndrome↗
PubMed1996

Prenatal diagnosis of Rambam-Hasharon syndrome.

Rambam-Hasharon syndrome (RHS) is a newly recognized autosomal recessive inborn error in fucose metabolism. Mental retardation, short stature, coarse facies, and recurrent infections are the main clinical findings. Several fucosilated proteoglycans are deficient in these patients. Leukocyte adhesion deficiency type 2 is associated with lack of the membrane glycoprotein sialyl-Lewisx (CD15s). In the red blood cells (RBCs), lack of the membrane glycoprotein H is manifested as a Bombay (Oh) blood type. Two consecutive pregnancies it risk for RHS were monitored during mid-trimester by cordocentesis. One fetus expressed H substance and her blood phenotype was O Rh+. The second fetus, a female, was 2 weeks smaller than expected by dates and had the Bombay blood type. The placenta of the affected fetus was small and irregular. This is the first prenatal diagnosis of this syndrome and the first case found in a female. The documentation of the syndrome in patients of both sexes and the parental consanguinity support an autosomal recessive inheritance. Two apparent recombinations between fucosyl-transferase 1 (FUT1, the H gene) and fucosyl-transferase 2 (secretor) are suggestive of non-allelic heterogeneity. We believe that the Bombay phenotype in this family is caused by a mutated gene, other than FUT1, which is causing multiple deficiencies of fucosilated proteoglycans.

Abortion, Induced↗
PubMedDate not supplied

[Clinical, biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism: SP-B deficiency and alveolar proteinosis].

Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus and to which a bulk of functions has been assigned, physical (surface-active properties) as well as immune or depurant. This complex consists of a surface active lipid layer (mainly phospholipids), and of an aqueous subphase. From discrete surfactant sub-fractions, one can isolate very hydrophobic proteins SP-B and SP-C as well as the collectins SP-A and SP-D, which were shown to have structural, metabolic, or defensive properties. Inborn or acquired abnormalities of surfactant, qualitative or quantitative in nature, account for a number human diseases. Beside hyaline membrane disease of the preterm neonate, a cluster of hereditary or acquired lung diseases have been characterized by the storage of periodic acid Schiff-positive material filling the alveoli. From this heterogeneous nosologic bulk, at least two discrete entities presently seem to emerge: 1) SP-B deficiency, in which an essentially proteinaceous material is stored within the alveoli, and which is a bona fide autosomal recessive Mendelian entity linked to the SFTPB gene (MIM 1786640), generally entailing neonatal respiratory distress with rapid fatal outcome, although partial or transient deficiencies have also been observed; 2) alveolar proteinosis, characterized by the storage of a mixed, protein and lipid material, and which constitutes a relatively heterogeneous clinical biological syndrome, with regards to age at onset (from the neonate through to adulthood) as well as the severity of associated signs. Murine models with a targeted mutation of the gene encoding GM-CSF (Csfgm) or the beta subunit of its receptor (Il3rbl) support the hypothesis of an abnormality of surfactant turnover in which the alveolar macrophage would be a key player. Beside SP-B deficiency, in which a near-consensus diagnostic chart can be designed, the ascertainment of other abnormalities of surfactant metabolism is not straightforward. The disentanglement of this disease cluster is however essential, with aim to propose differentiated therapeutic procedure : repeated bronchoalveolar lavages, GM-CSF replacement, bone marrow grafting or lung transplantation.

Amino Acid Metabolism, Inborn Errors↗
PubMed1975

Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity.

A 5-year-old girl with a history of recurrent infection and anaemia has no measurable purine nucleoside phosphorylase (N.P.) activity in her red blood-cells. Her serum-immunoglobulin levels are normal, as are her antibody responses to thymus dependent and independent antigens. However, she has severe lymphopenia, pronounced depression of lymphocyte response to mitogenic and allogeneic cell stimuli, and greatly decreased T-cell rosette formation. Her parents are second cousins; their red cells contain less than half the normal level of N.P. activity. They also share an unusual N.P. isozyme pattern indicative of molecular hybridisation between catalytically active and inactive subunits, which strongly supports the assumption that they are heterozygous and their daughter is homozygous for a "silent" allele at the N.P. gene locus. Inherited deficiency of adenosine deaminase, an enzyme catalysing a reaction only one metabolic step away from that of N.P., is known to cause immunodeficiency. It is therefore very likely that this patient's lack of demonstrable N.P. activity is responsible for her syndrome.

B-Lymphocytes↗
PubMed1999

Syndromes associated with immunodeficiency.

Immunodeficiency often has a genetic basis. Immune defects are the predominant manifestation in primary immunodeficiency disorders, and immune defects may also be associated with a number of other recognizable syndromes. There are 45 recognized primary immunodeficiency disorders, but immunodeficiency has been reported in 105 other syndromes. Abnormalities associated with these syndromes include growth deficiency (19 syndromes with disproportionate or proportionate short stature); specific organ system dysfunction (39 with gastrointestinal, dermatologic, or neurologic abnormalities); inborn errors of metabolism (17); miscellaneous anomalies (17); and chromosome anomalies (13). In most of these disorders, immunodeficiency is present in only a portion of the patients. However, in 49 syndromes, immunodeficiency is present in the vast majority. We review the clinical manifestations of each syndrome and delineate the associated immune defects. For most, the underlying mechanism linking the immune defect and other anomalies is unclear. Recognition of these conditions involving both the immune and other organ systems may facilitate accurate diagnosis and management, as well as yield information regarding genes critical for the development of the involved systems.

Chromosome Aberrations↗
PubMed1993

Discovery of the leukocyte adherence defect--a historical perspective.

Leukocyte adherence deficiency (LAD) is characterized by bacterial infections at peripheral tissue sites whose defense requires exit of neutrophils from the vasculature. LAD is unique in that one of the basic and common cell properties, adherence, is involved in this defect in host defense. The molecular understanding of LAD catalyzed a continuing revolution in the investigation and understanding of cell adherence phenomena inside and outside of the immune system. The explosive gain of knowledge directly attributable to the recognition of LAD may make this disease the most important inborn error of host defense yet recognized. The recognition of this defect through the interaction of a number of investigators is explored in this report. An attempt is made to reveal the background events that made the discovery of this defect possible. The relationship between the understanding of the physiology of this disease and the rapid understanding of the molecular defect is examined. Finally, the significance of this disease and its understanding in relation to biologic discovery in general are discussed.

Cell Adhesion↗
PubMed1989

Immunology of atopic dermatitis.

Atopic dermatitis is a chronic eczematous skin disease which characteristically starts early in life and later tends to disappear. Genetic predisposition seems important for the development of the disease. The immune system is involved through a lymphocyte-mediated inflammation in the skin creating the eczema, and an increased incidence of type I and possibly type IV allergies induced by environmental allergens. Recent findings of a changed concentration of some interleukins in atopic patients support the evidence for an increased T-lymphocyte activation and may explain the increased amount of polyclonal IgE in many of the patients. Hypothetically, atopic dermatitis can be considered to be due to an inborn error of the maturation of epithelial tissue. Maturation of epithelial tissue is essential for both the appearance of normal skin and for correct maturation of the cell-mediated immune system. The immune deviation is later more or less corrected through maturation which explains why the disease in most patients disappears in childhood. However, it still leaves a certain increased capacity for inflammation of the atopic persons.

Adult↗
PubMed1988

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.

Cerebellum↗