Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE
نویسندگان
چکیده
منابع مشابه
Combined immunodeficiency associated DOCK8 mutations
Results Case report: P.G.O, 9 years old, product of healthy and not consanguinity parents. At age 6 days started a recurrent intestinal bleeding, hypoactivity and fever and was hospitalized with a diagnosis of enterocolitis and sepsis by E.coli. Five days later presented cellulitis and infectious vasculitis in members with decrease of C3. Over the years presented several episodes of pneumonia, ...
متن کاملCombined immunodeficiency associated with DOCK8 mutations.
BACKGROUND Recurrent sinopulmonary and cutaneous viral infections with elevated serum levels of IgE are features of some variants of combined immunodeficiency. The genetic causes of these variants are unknown. METHODS We collected longitudinal clinical data on 11 patients from eight families who had recurrent sinopulmonary and cutaneous viral infections. We performed comparative genomic hybri...
متن کاملCombined Immunodeficiency Associated with DOCK8 Mutations and Related Immunodeficiencies
Studying rare inherited immune disorders in patients has led to improved understanding of how the human immune system is fundamentally regulated. This knowledge is needed to develop new therapeutic agents for immunodeficiency, autoimmunity, cancer, and transplantation. One such illustrative disorder is DOCK8 deficiency, whose molecular etiology was discovered only in the past year. The discover...
متن کاملDefects in Jak-STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency.
Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by atopic manifestations and susceptibility to infections with extracellular bacteria and fungi, which frequently occur in the skin and lung. Atopic manifestations in HIES include extremely high serum IgE levels, eczema and eosinophilia. Most of the extracellular bacterial infections are associated with disproportionally mild...
متن کاملClinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.
X-linked severe combined immunodeficiency is a life-threatening disorder caused by mutations in the gene encoding the interleukin-2 receptor gamma chain (IL2RG). Hypomorphic mutations and reversion of mutations in subpopulations of cells can result in variant clinical phenotypes, making diagnosis and treatment difficult. We describe a 5-year-old boy with mild susceptibility to infection who was...
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ژورنال
عنوان ژورنال: Clinical Immunology
سال: 2016
ISSN: 1521-6616
DOI: 10.1016/j.clim.2015.12.003