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946 Possible Causes for CDG, Ig

  • Skeletal Dysplasia

    Fibroblasts synthesized truncated LLOs, primarily Man(7)GlcNAc(2), suggestive of CDG-Ig.[] Exome sequencing has led to the identification of new CDG genes.[] Congenital disorders of glycosylation, including SLC35A3-CDG, can present as a wide phenotypic spectrum, including skeletal dysplasia.[]

  • Growth Hormone Deficiency

    As the coding regions of the genes known to be responsible for Ig CSR (CD40L, CD40, AICDA, and UNG) were intact in our patient, this might be a new form of Ig CSR deficiency[] BACKGROUND: Familial short stature (FSS) and constitutional delay of growth (CDG) are the most frequent norm variants in children presenting with short stature.[] The patient underwent Ig replacement therapy and received growth hormone therapy in addition to antibiotics and responded well.[]

  • Hypogammaglobulinemia

    […] isotypes could be used with the Ig-DBS assay in individuals 16 years of age.[] ), also known as MOGS-CDG.[] […] practice in the use of Ig treatment.[]

  • Autosomal Dominant Hyper-IgE Syndrome

    IgE levels. In Hyper-IgE syndromes the IgE level is usually 1000 IU/mL. The IgE level can vary substantially over the years.[] PGM3- CDG is a congenital disorder of glycosylation resulting in a primary immunodeficiency and neurologic syndrome which shares symptoms of Hyper IgE syndrome.[] […] features of the hyper-IgE syndrome.[]

  • Congenital Cytomegalovirus Infection

    The workup for maternal infection and fetal structural anomaly was negative except for positive CMV Ige in the maternal serum Cesarean section was performed due to fetal distress[] Serological analyses showed that cytomegalovirus immunoglobulin (Ig)M and IgG avidity were both positive.[] METHODS: Three hundred CMV immunoglobulin (Ig) M-positive pregnant women were enrolled.[]

  • Thyrotropin

    CONTEXT: Isolated elevation of TSH in the absence of thyroid symptoms can be very rarely caused by a macromolecule formed between TSH and Ig (macro-TSH), confounding the interpretation[] […] glycoprotein characterization, even though it is related to folding, trafficking, initiation of inflammation and host defense, as well as congenital disorders of glycosylation (CDG[]

  • Hereditary Fructose Intolerance

    […] kU/L), and banana (0.17 kU/L); total IgE levels were slightly elevated at 5 kU/L.[] CDG syndrome type I is due to phosphomannomutase deficiency, a defect in the early glycosylation pathway.[] In all patients a hypoglycosylated pattern of transferrin isoforms was found but was misinterpreted as a sign of CDG Ix.[]

  • Severe Combined Immunodeficiency

    Dclre1c leaky mice also had inflammatory symptoms, including wasting, dermatitis, colitis, hypereosinophilia, and high IgE levels.[] Exome sequencing has led to the identification of new CDG genes.[] Elevated IgE was a characteristic feature of ADA deficiency.[]

  • Dysequilibrium Syndrome

    A cell count, cytology, total protein and glucose concentrations in CSF, the blood-CSF barrier function, intrathecal synthesis of immunoglobulins (Ig) in class M, G and A[] One patient was diagnosed with congenital disorder of glycosylation type 1a (CDG-1a).[] Dublin (DUB) TO Paris (CDG) 29 Jan 2019 Dublin (DUB) Paris (CDG) EI522 1:12 09:50 10:24 11:30 Landed 11:37 Play EI203 29 Jan 2019 0:37 Landed 09:19 STD 08:10 ATD 08:42 STA[]

  • Venous Thrombosis

    F ig 2. Patient 2, a 46-year-old woman with headaches and cortical venous thrombosis.[] Abstract Congenital disorders of glycosylation (CDG) are rare inborn diseases of glycan component of N-glycosylated proteins.[] F ig 3. Patient 3, a 64-year-old woman with headaches and cortical venous thrombosis.[]

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