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  • SCID
  • Primary immune deficiencies Severe combined immunodeficiency (SCID) DiGeorge syndrome Hyperimmunoglobulin E syndrome (also known as Job's Syndrome) Common variable immunodeficiency (CVID): B-cell levels are normal in circulation but with decreased production of IgG throughout the years, so it is the only primary immune disorder that presents onset in the late teens years. (wikipedia.org)
  • thiamine
  • Thiamine deficiency derails mitochondrial oxidative metabolism and gives rise to the classic disease of beriberi that, in its early stages, can be considered the prototype for a set of disorders that we now recognize as dysautonomia. (elsevier.com)
  • metabolic
  • Since dyslipidemia is a common clinical manifestation of LAL Deficiency that is shared among other cardiovascular, liver and metabolic diseases and has been associated with accelerated development of atherosclerosis, cardiovascular disease and premature mortality, it is important that physicians remain vigilant to avoid mis- or under-diagnosing this disease. (thestreet.com)
  • In 1962 he was appointed to the pediatric staff where his clinical research led to his commitment to uncovering the connections between thiamin metabolism and metabolic brain disease. (elsevier.com)
  • Patients
  • Patients of this deficiency should eat food rich in proteins and carbohydrates. (preservearticles.com)
  • The purpose of this study is to determine whether bilateral orthotopic lung transplantation (BOLT) followed by cadaveric partially-matched hematopoietic stem cell transplantation (HSCT) is safe and effective for patients aged 5-45 years with primary immunodeficiency (PID) and end-stage lung disease. (clinicaltrials.gov)
  • disorder
  • Wiskott-Aldrich syndrome (WAS) Autoimmune lymphoproliferative syndrome (ALPS) Hyper IgM syndrome: X-linked disorder that causes a deficiency in the production of CD40 ligand on activated T-cells. (wikipedia.org)
  • clinical
  • Synageva is evaluating sebelipase alfa in global Phase 3 clinical trials in infants, children and adults with LAL Deficiency. (thestreet.com)
  • Highly recommended for institutional libraries and for specialists in clinical immunology and infectious disease. (annals.org)
  • conditions
  • Further, under conditions of food deficiency, the presence in the bowel -- let us say -- of such agents may determine the character of the morbid states initiated by the food deficiency, and even impart to them endemic or epidemic characters. (journeytoforever.org)
  • organization
  • A non-profit, community-based organization that seeks to prevent the spread of HIV in the community and to support those affected by the disease. (dmoztools.net)
  • multiple
  • A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. (jax.org)
  • Lupus Scleroderma Certain types of hemolytic anemia Vasculitis Type one diabetes Graves disease Rheumatoid arthritis Multiple sclerosis (although it is thought to be an immune-mediated process) Goodpasture's syndrome Pernicious anemia Some types of myopathy Lyme disease (Late) Primary immune deficiency diseases are those caused by inherited genetic mutations. (wikipedia.org)
  • largely
  • For I have thought it well to make a general survey of this largely unexplored territory of disease before attempting more detailed studies. (journeytoforever.org)
  • food
  • CUSTOM has sanctioned the application of the term 'deficiency disease' to a group of maladies the chief causal factor of which is deficiency in the food of certain substances, named 'accessory food factors' by Gowland Hopkins, their discoverer. (journeytoforever.org)
  • The method of investigation adopted was, therefore, to study the effects of vitamin-deficiency in association with other food faults which may accompany it. (journeytoforever.org)
  • Consequently, the manifestations of disease resulting from the faulty food are compounded of the several effects of varying degrees of avitaminosis on the one hand, and of ill-balance of the food on the other. (journeytoforever.org)
  • So it is that in practice the manifestations of deficiency disease are influenced by a number of factors apart from the actual food-fault. (journeytoforever.org)
  • My investigations have so far been concerned with this wider aspect of food deficiency. (journeytoforever.org)
  • Journal
  • Synageva BioPharma Corp. (Synageva) (NASDAQ:GEVA), a biopharmaceutical company developing therapeutic products for rare diseases, today announced the publication of an overview of lysosomal acid lipase deficiency (LAL Deficiency) in the online version and an upcoming print edition of Atherosclerosis , the official journal of the European Atherosclerosis Society. (thestreet.com)
  • Therapy
  • Additionally, sebelipase alfa received fast track designation by the FDA, and Breakthrough Therapy designation by the FDA for LAL Deficiency presenting in infants. (thestreet.com)
  • rare
  • The mucopolysaccharidoses (MPS) consist of a group of rare LSDs caused by a deficiency of enzymes needed to break down complex sugars called glycosaminoglycans. (thestreet.com)
  • death
  • Infants presenting with LAL Deficiency, historically called Wolman disease, show very rapid progression, with death usually in the first six months of life. (thestreet.com)