Inmunodeficiencias primarias

	Am Fam Physician. 2003 Nov 15;68(10):2001-8. Primary immunodeficiencies. Cooper MA, Pommering TL, Korányi K. The Ohio State University College of Medicine and Public Health, Columbus, Ohio, USA. Comment in: Am Fam Physician. 2003 Nov 15;68(10):1919, 1923, 1926. Abstract Primary immunodeficiencies include a variety of disorders that render patients more susceptible to infections. If left untreated, these infections may be fatal. The disorders constitute a spectrum of more than 80 innate defects in the body's immune system. Primary immunodeficiencies generally are considered to be relatively uncommon. There may be as many as 500,000 cases in the United States, of which about 50,000 cases are diagnosed each year. Common primary immunodeficiencies include disorders of humoral immunity (affecting B-cell differentiation or antibody production), T-cell defects and combined B- and T-cell defects, phagocytic disorders, and complement deficiencies. Major indications of these disorders include multiple infections despite aggressive treatment, infections with unusual or opportunistic organisms, failure to thrive or poor growth, and a positive family history. Early recognition and diagnosis can alter the course of primary immunodeficiencies significantly and have a positive effect on patient outcome. Free Article
	PMID: 14655810 [PubMed - indexed for MEDLINE]
	MeSH Terms: Immunologic Deficiency Syndromes/classification, Immunologic Deficiency Syndromes/diagnosis*, Immunologic Deficiency Syndromes/immunology, Immunologic Deficiency Syndromes/therapy*

En niño con infección recurrente

	Clin Exp Immunol. 2008 Jun;152(3):389-96. Epub 2008 Mar 28. Clinical immunology review series: an approach to the patient with recurrent infections in childhood. Slatter MA, Gennery AR. Department of Paediatric Immunology, Newcastle upon Tyne Hospitals Foundation Trust, Newcastle upon Tyne, UK. Abstract Recurrent or persistent infection is the major manifestation of primary immunodeficiency, which also results in atypical infection with opportunistic organisms. Young children are also vulnerable to infection and recurrent infection is common. While most children with recurrent infection have a normal immunity, it is important to recognize the child with an underlying primary immunodeficiency and investigate and treat appropriately and yet not over investigate normal children. Prompt, accurate diagnosis directs the most appropriate treatment, and early and judicious use of prophylactic antibiotics and replacement immunoglobulin can prevent significant end organ damage and improve long-term outlook and quality of life. This paper describes important presenting features of primary immunodeficiency and indicates when further investigation is warranted. PMCID: PMC2453200 Free PMC Article
	PMID: 18373701 [PubMed - indexed for MEDLINE]
	MeSH Terms Immunologic Deficiency Syndromes/complications*, Immunologic Deficiency Syndromes/diagnosis* Opportunistic Infections/complications*, Opportunistic Infections/immunology Opportunistic Infections/therapy, Recurrence

Tratamiento de inmunodeficiencias primarias

	Allergol Immunopathol (Madr). 2007 Sep-Oct;35(5):184-92. Update on the treatment of primary immunodeficiencies. García JM, Español T, Gurbindo MD, Casas C C. Allergy and Immunology Unit, Department of Paediatrics, Cruces Hospital, Barakaldo, Basque Country, Spain. juanmiguel.garciamartinez@osakidetza.net Abstract A general review of advances in the treatment of Primary Immunodeficiencies (PID) has been performed. Treatment with immunoglobulins is indicated in cases of humoral immunodeficiencies and in selected cases of combined immunodeficiencies. The use of intramuscular immunoglobulins in the treatment of PID was abandoned after obtaining the intravenous immunoglobulins, since these are much more effective and have fewer adverse effects. Now subcutaneous immunoglobulins are also available. Immunoglobulins help to keep the patients free of symptoms and infections as these substances are able to neutralise infectious agents, modulate and promote the immune response and favour phagocytosis. Adverse effects have been reported in 5-15 % of patients receiving IVIg, and patients with deficiencies of subclasses of IgG with IgA deficiency and/or anti-IgA antibodies are at risk of severe reactions. No severe adverse effects of subcutaneous immuneglobulins have been reported and the medication can be self-administered. The efficacy and safety of IVIg and SCIg are similar and SCIg administered at home is associated with better quality of life. Stem Cell Transplantation (SCT) in Primary Immunodeficiencies is aimed at restoring the number and/or function of lymphocytes or phagocytes. Matched, related or unrelated donors, or related haploidentical donors are selected. HLA class II mismatched unrelated donors are avoided owing to the risk of severe graft versus host disease (GVHD). Stem cells are obtained from bone marrow, cord blood or peripheral blood. Prophylactic immunossupression (as well as donor T lymphocyte depletion in haploidentical and unrelated donors) is performed to avoid or minimize GVHD. Less toxic "reduced intensity" protocols now exist for pre-transplantation conditioning, indicated to avoid graft rejection if there is residual T-lymphocyte immunity in the host. In the majority of Severe Combined Immunodeficiencies (SCID), SCT results in T lymphocytes graft and the antibody immunodeficiency persists in many cases. The results are better the earlier it is performed, with the absence of previous infections, and with the degree of matching. The patient must be maintained in a laminar flow room with broad anti-infectious prophylaxis and with the intravenous administration of gammaglobulin for a variable period. Many other complications can be expected. Gene therapy. Patients with PID are ideal candidates, as they are monogenic, the haematopoietic cells are easily obtained and virus replication is easy within them. Vectors (viruses) "infect" the stem cells of the patient's bone marrow, producing the transfection of the wild (healthy) gene in these cells. Encouraging results have been achieved in X-linked SCID as there are a number of patients who are considered "cured", although neoplastic processes have occurred due to the activation of proto-oncogenes close to the point of insertion of the external gene, using retroviruses as vectors; there are now trials with adenovirus, physical methods (direct injection...) and chemical methods (viral modification, artificial viruses...). Gene therapy has also been performed in patients with Chronic Granulomatous Disease and trials will improve in the future with changes in protocols used in oncology and infectious diseases. Free Article
	PMID: 17923072 [PubMed - indexed for MEDLINE]
	MeSH Terms: Gene Therapy/methods, Immunoglobulins/therapeutic use, Immunologic Deficiency Syndromes/drug therapy, Immunologic Deficiency Syndromes/therapy

Trastornos neuromusculares

	J Pediatr (Rio J). 2002 Jul;78 Suppl 1:S89-S103. [Neuromuscular disorders] [Article in Portuguese] Reed UC. Universidade de São Paulo, São Paulo, SP, Brazil. Abstract OBJECTIVE: To discuss the most important aspects for the performance of a differential diagnosis among the main neuromuscular disorders in children, which include diseases affecting the motor unity, i.e. spinal motor neurons, peripheral nerves, neuromuscular junction and muscular fibers. SOURCES: The review of the clinical aspects that should be considered for a prompt differential diagnosis among several neuromuscular disorders as well as between those and the main causes of secondary muscular hypotonia due to central nervous system or systemic disturbances is based on the clinical experience acquired along the last 12 years in following-up children with Neuromuscular Disorders attended at the outpatient Service of Neuromuscular Disorders at the Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. In addition, it is based on Medline and on the review of the most recent numbers of Neuromuscular Disorders, the official journal of the World Muscle Society. SUMMARY OF THE FINDINGS: Most of neuromuscular disorders are genetic conditions in children and the most common of them are Xlinked Progressive Muscular Dystrophy of Duchenne, Spinal Muscular Atrophy, Congenital Muscular Dystrophy, Myotonic Dystrophy and Congenital Myopathies. CONCLUSIONS: Due to the phenomenal development in human molecular genetics the pathogenesis of several neuromuscular disorders in children has been clarified over the last decade. Nowadays many new diagnostic methods, including techniques of fetal diagnosis, and a more objective genotype-phenotype correlation as well as classification are available. Free Article
	PMID: 14676872 [PubMed - as supplied by publisher]

Enfermedades neuromusculares hereditarias

	Rev Neurol. 2005 Aug 1-15;41(3):145-50. [Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years] [Article in Spanish] López-Pisón J, Rebage V, Baldellou-Vázquez A, Capablo-Liesa JL, Colomer J, Calvo MT, Sáenz de Cabezón A, Alfaro-Torres J, del Agua C, Bestué M, Peña-Segura JL. Sección de Neuropediatría, Hospital Universitario Miguel Servet, Zaragoza, Spain. jlopezpi@salud.aragon.es Abstract INTRODUCTION: Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. PATIENTS AND METHODS: We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. RESULTS: Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreich's ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreich's ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdle's disease and one case of Kearns-Sayre syndrome. CONCLUSIONS: Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached. Free Article
	PMID: 16047297 [PubMed - indexed for MEDLINE]
	MeSH Terms Genetic Diseases, Inborn*/diagnosis, Genetic Diseases, Inborn*/physiopathology, Neuromuscular Diseases/congenital*, Neuromuscular Diseases/diagnosis, Neuromuscular Diseases/genetics, Neuromuscular Diseases/physiopathology

Multiple Sclerosis: Etiology, Diagnosis, and New Treatment Strategies

Multiple Sclerosis: Etiology, Diagnosis, and New Treatment Strategies
A synthesis of current concepts about the evaluation, treatment, and future directions in MS. On the evaluation side, the authors review the use of MRI, magnetic resonance spectroscopy, functional MRI, and three-dimensional MRI, and consider the rapidly developing body of pathologic information they have yielded. On the treatment side, the focus is on recently approved medications (Novantrone), new indications for medications (CHAMPS Trial), medications in development (Oral Interferon Tau, Oral Copaxone, and Oral Cellcept), immunosuppressive therapy for both progressive disease and symptomatic therapy; the current medications for treating relapsing-remitting MS (Avonex, Betaseron, and Copaxone) are also discussed. For future directions, the authors present the current best thinking, as well as the latest discoveries in immunology relating to MS, including groundbreaking B-cell research and its applications to specific immunotherapies, and the use of immune markers for tracking the disease.