Letter: Severe combined immuno-deficiency and trisomy D.
نویسندگان
چکیده
منابع مشابه
unrelated cord blood transplantation in severe combined immuno¬deficiency (scid) patients, the first report in iran
severe combined immunodeficiency is a true pediatric emergency; children with scid were the first patients with immunodeficiencies to be successfully transplanted with unrelated and t-cell-depleted, haploidentical bone marrow. the pattern of inheritance of scid is x-linked and autosomal recessive (ada def, jak3, rag1, rag2, il 7rα). in this case report, we describe a one-year-old boy with b+t- ...
متن کاملSevere combined immune deficiency syndrome.
OBJECTIVE To determine the clinico-demographic features and laboratory parameters of children with severe combined immunodeficiency (SCID). STUDY DESIGN Case series. PLACE AND DURATION OF STUDY Department of Paediatrics and Child Health, the Aga Khan University, Karachi, from July 2006 to July 2011. METHODOLOGY Thirteen infants who were discharged with a diagnosis of SCID were inducted in...
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Vitamin D comprises a group of fat-soluble pro-hormones, obtained from sun exposure, food, and supplements, and it must undergo two hydroxylation reactions to be activated in the body. Several studies have shown the role of vitamin D in mineral metabolism regulation, especially calcium, phosphorus, and bone metabolism. Some factors such as inadequate vitamin intake and liver or kidney disorders...
متن کاملMyelofibrosis in severe vitamin D deficiency rickets.
Vitamin D deficiency is prevalent in infants and children in the underdeveloped countries. Infants with mild deficiency tend to present with complications like hypocalcemic seizures whereas occurrence of pathological features in advanced rickets is well elucidated. Secondary myeloflbrosis has been reported as a complication of severe rickets and in these children anemia, myeloid metaplasia and ...
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This review summarizes current data on the pathomechanisms and new genetic findings of combined factor V and VIII deficiency (CF5F8D). Congenital haemorrhagic disorders characterized by deficiency of two clotting factors comprise an interesting group. Among dual coagulation disorders, CF5F8D is the most common type. For the first time combined factor V and VIII deficiency (F5F8D) was reported b...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1976
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.51.6.485-a