Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency
نویسندگان
چکیده
منابع مشابه
KPC1-Mediated Ubiquitination and Proteasomal Processing of NF-κB1 p105 to p50 Restricts Tumor Growth
NF-κB is a key transcriptional regulator involved in inflammation and cell proliferation, survival, and transformation. Several key steps in its activation are mediated by the ubiquitin (Ub) system. One uncharacterized step is limited proteasomal processing of the NF-κB1 precursor p105 to the p50 active subunit. Here, we identify KPC1 as the Ub ligase (E3) that binds to the ankyrin repeats doma...
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We describe a patient with common variable immunodeficiency who three times presented an anaphylactic reaction after intravenous immunoglobulin administration. These reactions were attributed to the total absence of IgG 2, 3 and 4.
متن کاملCommon variable immunodeficiency.
Common variable immunodeficiency (CVID) is a form of severe antibody deficiency with an estimated prevalence of 1 in 25,000 to 1 in 100,000. The disorder apparently results from currently undefined immune deregulations resulting in failed B-cell differentiation with impaired secretion of immunoglobulins. A 5-year female presented with fever, cough and shortness of breath at rest. Past medical h...
متن کاملCommon variable immunodeficiency
Common variable immunodeficiency (CVID) is a common primary immunodeficiency characterized by a failure in B-cell differentiation with defective immunoglobulin production. Affected patients are uniquely susceptible to recurrent infection with encapsulated organisms and have an increased propensity for the development of inflammatory and autoimmune manifestations. The diagnosis of CVID is common...
متن کاملCommon variable immunodeficiency
Common variable immunodeficiency (CVID) refers to a heterogeneous immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections and a variety of immunological abnormalities. Affected persons are prone to recurrent bacterial infections, especially involving the upper and lower respiratory tracts. In addition, patients exhibit increased susceptibility to a prote...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2015
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2015.07.008