Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency
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چکیده
منابع مشابه
Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency
Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face, recurrent perianal abscess, pancytopenia, and polydactyly. Firstly, she was thought as Fanconi a...
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Although selective IgM deficiency (SIGMD) was described almost five decades ago, it was largely ignored as a primary immunodeficiency. SIGMD is defined as serum IgM levels below two SD of mean with normal serum IgG and IgA. It appears to be more common than originally realized. SIGMD is observed in both children and adults. Patients with SIGMD may be asymptomatic; however, approximately 80% of ...
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ژورنال
عنوان ژورنال: Case Reports in Pediatrics
سال: 2014
ISSN: 2090-6803,2090-6811
DOI: 10.1155/2014/614238