Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C
نویسندگان
چکیده
منابع مشابه
A case of severe combined immunodeficiency presenting with CMV pneumonia
A five month-old girl was admitted in Ali Asghar Children’s Hospital with a history of three months of fever, cough and dyspnea that her symptoms have exacerbated since two weeks before admission. She was the first child of the family born to consanguineous parents. She was clinically healthy in the past and had gained weight normally and undergone vaccination program with no complication unti...
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Severe combined immunodeficiency is a rare, fatal syndrome of diverse genetic cause in which there is combined absence of T-lymphocyte and B-lymphocyte function (and in many cases also natural killer, or NK lymphocyte function). These defects lead to extreme susceptibility to serious infections. Without intervention, the T and B-cell dysfunction usually results in severe infection and death in ...
متن کاملNovel RAG1 mutation in a case of severe combined immunodeficiency.
OBJECTIVE The recombination activating enzymes RAG1 and RAG2 are essential to the process of V(D)J rearrangement in B and T cells and thus to the development of normal immune function. Mutations in RAG1 or RAG2 can lead to a spectrum of disorders, ranging from typical (B-)(T-) severe combined immunodeficiency to Omenn's syndrome. We present a unique presentation of RAG1 deficiency. PATIENT We...
متن کاملA Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations. Recombination-activating gene (RAG) 1 and 2 seem to be two of the most common forms presenting with various manifestations, including typical SCID, Omenn syndrome (OS), atypical SCID (AS), or delayed onset combined immunodefici...
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ژورنال
عنوان ژورنال: Pediatric Allergy and Immunology
سال: 2017
ISSN: 0905-6157
DOI: 10.1111/pai.12812