This report adds to a growing list of immune defects associated with immune dysregulation that present clinically with elevated IgE levels, atopic disease, and autoimmunity together with increased susceptibility to infection. [pediatrics.aappublications.org]

Four adults with CDG-Ia, ages 19-36 years old are presented. You can find the abstract HERE and order the complete article HERE. [apcdg.com]

Because glycosylation is known to be critical for numerous immune-related proteins, these patients likely present with additional abnormalities including neutropenia, hemolytic anemia, hepatosplenomegaly, and neutropenia. [en.wikipedia.org]

Marlène Lemire-Girard, Françoise Rypens, Françoise Le Deist, Hélène Decaluwe, Michel Duval, Dorothée Bouron-Dal Soglio, Victor Kokta, Élie Haddad, Philippe M Campeau Abstract: Congenital disorders of glycosylation (CDGs) affect multiple systems and present [scilit.net]

In many CDG subtypes, patients unexpectedly presented with long-term survival, whereas some others presented with nonsyndromic intellectual disability. [link.springer.com]

• Splenomegaly

  This disorder is characterized by yellowing of the skin and whites of the eyes (jaundice), an abnormally large spleen (splenomegaly), gallstones (cholelithiasis), premature destruction of red blood cells (hemolysis) and low levels of circulating red blood [rarediseases.org]

• Anemia

  Showing of 26 | 5%-29% of people have these symptoms Hemolytic anemia 0001878 Membranoproliferative glomerulonephritis 0000793 Percent of people who have these symptoms is not available through HPO Allergic rhinitis Hay fever Hayfever [ more ] 0003193 [rarediseases.info.nih.gov]

  Because glycosylation is known to be critical for numerous immune-related proteins, these patients likely present with additional abnormalities including neutropenia, hemolytic anemia, hepatosplenomegaly, and neutropenia. [en.wikipedia.org]

  SEC23B-CDG – The mutation of the SEC23B gene causes a disorder known as congenital dyserythropoietic anemia type 2 (or HEMPAS). [rarediseases.org]

  Severe autoimmune/idiopathic neutropenia requiring granulocyte colonystimulating factor (patient II.1) and hemolytic anemia (patient II.2) with osmotic fragility also occurred. [mafiadoc.com]

• Hearing Impairment

  Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cortical myoclonus [rarediseases.info.nih.gov]

• Skin Disease

  Orpha Number: 443811 Disease definition PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases [rarediseases.info.nih.gov]

  Those in family I also had severe blistering skin disease as toddlers on the spectrum of Stevens-Johnson syndrome. Because they occurred without identifiable exogenous provocation, we refer to them as erythema multiforme major (Table I). [mafiadoc.com]

• Neutropenia

  We identified three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure. [uniprot.org]

  Because glycosylation is known to be critical for numerous immune-related proteins, these patients likely present with additional abnormalities including neutropenia, hemolytic anemia, hepatosplenomegaly, and neutropenia. [en.wikipedia.org]

Mild defects in T-cell function can also be observed, in addition to an inverted CD4 / CD8 ratio [4] Treatment [ edit ] Once a diagnosis is made, the treatment is based on an individual’s clinical condition and may include standard management for autoimmunity [en.wikipedia.org]

Developing successful therapies in these patients may further provide novel targets or approaches to the treatment of allergic diseases in the general population. [clinicaltrials.gov]

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Common variable immunodeficiency: Diagnosis, management, and treatment. Immunol Allergy Clin North Am. 2015;35(4):637-658. [scielo.org.mx]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

BONE INVOLVEMENT November 2015 Case report two affected siblings presenting prenatally with skeletal abnormalities associated with dysmorphic features, cerebellar vermis hypoplasia, corpus callosum agenesis, hepatic fibrosis and poor prognosis. [apcdg.com]

Nat Genet 37:692–700 PubMed CrossRef Waggoner DD, Buist NR, Donnell GN (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. [springermedizin.de]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Relevant External Links for PGM3 Genetic Association Database (GAD) PGM3 Human Genome Epidemiology (HuGE) Navigator PGM3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PGM3 No data available for Genatlas for PGM3 Gene Identification of [genecards.org]

Autoimmunity in common variable immunodeficiency: Epidemiology, pathophysiology and management. Expert Rev Clin Immunol. 2017;13(2):101-115. [scielo.org.mx]

“Our findings suggest that altered glycosylation might be important in the pathophysiology of allergic diseases in the general population,” Yu Zhang, PhD, of the National Institutes of Allergy and Infectious Diseases at the NIH, and colleagues wrote. [healio.com]

Autoimmunity in common variable immunodeficiency: Epidemiology, pathophysiology and management. Expert Rev Clin Immunol. 2017;13(2):101-115. [scielo.org.mx]

Our findings suggest that altered glycosylation might be important in the pathophysiology of allergic diseases in the general population. [mafiadoc.com]

J Inherit Metab Dis 29:516–525 PubMed CrossRef Buerki SE, Grandgirard D, Datta AN et al (2016) Inflammatory markers in pediatric stroke: an attempt to better understanding the pathophysiology. [springermedizin.de]

These findings will facilitate the development of preventive approaches through genetic counselling and prenatal diagnosis in the affected families. Read this article (multiple options) Comments Related Papers [readbyqxmd.com]

These findings will facilitate the development of preventive approaches through genetic counselling and prenatal diagnosis in the affected families. Affiliation Journal Details This article was published in the following journal. [bioportfolio.com]