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Immunodeficiency Type 23

CID due to PGM3 deficiency


Presentation

  • 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]
  • 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]
  • 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]
  • 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]
Recurrent Respiratory Infections
  • respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Scoliosis Abnormal curving of the spine 0002650 Sensorineural hearing impairment[rarediseases.info.nih.gov]
Developmental Disabilities
  • Common neurological symptoms include diminished muscle tone (hypotonia), seizures, deficits in attaining developmental milestones (developmental disability), varying degrees of cognitive impairment, and underdevelopment of the cerebellum (cerebellar hypoplasia[rarediseases.org]
Rhinitis
  • 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 Asthma[rarediseases.info.nih.gov]
  • Pneumonia, otitis, SSTI II.1 12/M Food allergy, allergic rhinitis, Atopic dermatitis drug allergy SSTI, fungal pneumonia, otitis, sinopulmonary II.2 10/M Allergic rhinitis Atopic dermatitis Flat warts, SSTI, otitis II.3 1/M Food allergy, FPIES Atopic[mafiadoc.com]
Pulmonary Disorder
  • Disorders; Eosinophilia in Infectious Diseases; Eosinophilia associated with Immune Deficiency and Immune Dysregulation; Eosinophilia in Dermatologic disorders; Management of Hypereosinophilic Syndromes; and Novel Therapies for Eosinophilic Disorders[books.google.com]
Hearing Impairment
  • impairment 0000407 Sensory impairment 0003474 Vasculitis in the skin 0200029 Showing of 26 Last updated: 12/1/2018 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.[rarediseases.info.nih.gov]
Eczema
  • […] defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cortical myoclonus 0040148 Dysarthria Difficulty articulating speech 0001260 Eczema[rarediseases.info.nih.gov]
  • […] allergy Atopic dermatitis, vasculitis, erythema multiforme major EBV viremia, pneumonia, molluscum, otitis, SSTI I.4 30/M Food allergy, drug allergy Atopic dermatitis, vasculitis, EBV viremia, otitis, SSTI erythema multiforme major Atopic dermatitis, eczema[mafiadoc.com]
Erythema
  • […] deficits Intellectual impairment Mental impairment [ more ] 0100543 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cortical myoclonus 0040148 Dysarthria Difficulty articulating speech 0001260 Eczema 0000964 Erythema[rarediseases.info.nih.gov]
  • Age (y)/sex I.1 35/M Asthma, allergic rhinitis I.2 32/F Food allergy, allergic rhinitis, Atopic dermatitis, vasculitis, drug allergy erythema multiforme major EBV viremia, sinopulmonary I.3 30/M Asthma, food allergy Atopic dermatitis, vasculitis, erythema[mafiadoc.com]
Dysarthria
  • Early neurologic impairment is evident including developmental delay , intellectual disability , ataxia , dysarthria , sensorineural hearing loss , myoclonus and seizures .[rarediseases.info.nih.gov]
  • Low IQ, dysarthria, ataxia, myoclonus, sensorineural hearing loss, CNS myelination defect, seizure, abnormal EEG Low IQ, dysarthria, ataxia, myoclonus, reduced vibratory sensation, sensorineural hearing loss Esophageal stricture Bronchiectasis s/p bilateral[mafiadoc.com]
  • Oral motor deficits, dysarthria, developmental delay, ataxia, myoclonus, seizure and mild sensory loss have all been identified.[en.wikipedia.org]
Responsiveness Decreasing
  • Decreased reflexes [ more ] 0001265 Immunodeficiency Decreased immune function 0002721 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Lymphopenia Decreased blood lymphocyte[rarediseases.info.nih.gov]
Cognitive Defect
  • defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cortical myoclonus 0040148 Dysarthria Difficulty articulating speech 0001260[rarediseases.info.nih.gov]
Cognitive Deficit
  • deficits Intellectual impairment Mental impairment [ more ] 0100543 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cortical myoclonus 0040148 Dysarthria Difficulty articulating speech 0001260 Eczema 0000964[rarediseases.info.nih.gov]
Hyporeflexia
  • Difficulty articulating speech 0001260 Eczema 0000964 Erythema 0010783 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyporeflexia[rarediseases.info.nih.gov]

Treatment

  • 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]
  • 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]
  • Nevertheless, many exciting advances have been made in the field of CDG treatments.[apcdg.com]

Prognosis

  • 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]

Etiology

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

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • “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]
  • 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]

Prevention

  • 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]

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