Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency
نویسندگان
چکیده
منابع مشابه
Megaloblastic anemia of pregnancy: characteristics of pure megaloblastic anemia and megaloblastic anemia associated with iron deficiency.
LTHOUGH megaboblastic anemia of pregnancy is considered mainly as a folic acid deficiency anemia, since this vitamin induces remission in most cases, its mechanism of production is still obscure. Dietary deficiency has been claimed to be the principal cause. However, this anemia has been observed in well-to-do women whose diet was satisfactory. Some other factors such as gastrointestinal upset,...
متن کاملSevere combined immunodeficiency resulting from mutations in MTHFD1.
Folate and vitamin B(12) metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with immunodeficiency. Here we describe the occurrence of severe combined immunodeficiency (SCID) with megaloblastic anemia, leukopenia, atypical hemolytic uremic syndrome, and neurologic abnormalities in which hydroxocobalamin and folate therapy provided pa...
متن کاملMegaloblastic Anemia in Pregnancy
MegalobJastic Anemia in Pregnancy Megaloblastic Anemia is one of The Rather Common Diseases of Pregnant Women Caused by Folic acid Deficiency The Disease Might Be Hazardous To affected Mothers and also Could be Fatal for foetus too. Megaloblastic Pregnant Women Will have Signs and Symptoms of This Disease mostly after 29th. Week of pregnancy. Adequate amount of Folate Will prevent Compli...
متن کاملUSE OF MYELOPEROXIDASE INDEX AS A SUITABLE TOOL TO MONITOR RESPONSE TO THERAPY IN PATIENTS WITH MEGALOBLASTIC ANEMIA
Repeated bone marrow examination was found to be of value in assessing response to treatment in megaloblastic anemia. The objective of this study was monitoring the response of megaloblastics to treatment, concerning the location of neutrophilic myeloperoxidase and myeloperoxidase index (MPXI) and their variation in megaloblastic erythroid progeny. It is possible to follow up megaloblastic ...
متن کامل[Intractable vomiting, convulsions and megaloblastic anemia: anamnesis, key to diagnosis].
In July 1996 a 43-year-old illiterate Hispanic woman presented with uncontrollable vomiting, palpitations and confusion. In 1994, despite several hospitalisations in other medical centres where a cerebral CT-scan, oesogastroduodenoscopy, colonoscopy and abdominal ultrasound were performed, no satisfactory diagnosis could be found. A psychiatric origin was finally considered. On admission, the l...
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ژورنال
عنوان ژورنال: The Journal of Allergy and Clinical Immunology: In Practice
سال: 2016
ISSN: 2213-2198
DOI: 10.1016/j.jaip.2016.07.014