{"Name":"Decreased circulating level of specific antibody","DiseaseID__c":"GARD:0011903","id":11903,"encodedName":"decreased-circulating-level-of-specific-antibody","IsDeleted":false,"Disease_Name_Full__c":"Decreased circulating level of specific antibody","Xref_IDs__c":"234556002; C5399780; HP:0012475; MEDGEN:1747183; MONDO:0019093; ORPHA:70593","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0019093","Disease_Description__c":"A rare primary immunodeficiency characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness.","GARD_Name__c":"Decreased circulating level of specific antibody","GARD_Synonym__c":"abnormal specific antibody response; decreased specific antibody in blood; immunodeficiency due to selective anti-polysaccharide antibody deficiency; specific anti-polysaccharide antibody deficiency; specific antibody deficiency","Curated_Disease_Description_Source__c":"MONDO:0019093","Curated_Disease_Description__c":"A rare primary immunodeficiency characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:70593","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019093","ORPHANET_ID__c":"ORPHA:70593","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia por deficiencia selectiva de anticuerpos anti-polisacáridos","Spanish_Description_Source__c":"ORPHA:70593","Spanish_Description__c":"Es una inmunodeficiencia primaria poco frecuente caracterizada por niveles normales de inmunoglobulinas (incluyendo las subclases de IgG) pero con una capacidad alterada de respuesta a los polisacáridos.","Spanish_Disease_Name__c":"inmunodeficiencia por deficiencia selectiva de anticuerpos anti-polisacáridos","Spanish_GARD_Synonym__c":"deficiencia específica de anticuerpos anti-polisacáridos; deficiencia específica de anticuerpos polisacáridos; deficiencia selectiva de anticuerpos anti-polisacáridos; spad","Category_Linearization__c":"ORPHA:98004","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare primary immunodeficiency characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness.","Curated_Disease_Description_Source__c":"MONDO:0019093","GARD_Synonym__c":"abnormal specific antibody response; decreased specific antibody in blood; immunodeficiency due to selective anti-polysaccharide antibody deficiency; specific anti-polysaccharide antibody deficiency; specific antibody deficiency","Name":"Decreased circulating level of specific antibody","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:70593"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:70593"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:70593"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1747183","Source__c":"C5399780","Xref__c":"MEDGEN:1747183"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5399780","Source__c":"C5399780","Xref__c":"C5399780"},{"URL__c":"https://www.orpha.net/en/disease/detail/70593","Source__c":"C5399780; MONDO:0019093","Xref__c":"ORPHA:70593"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234556002","Source__c":"MONDO:0019093","Xref__c":"234556002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019093","Source__c":"GARD:0011903","Xref__c":"MONDO:0019093"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012475","Source__c":"C5399780","Xref__c":"HP:0012475"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation or infection of the middle ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000388","HPO_Synonym__c":"Middle ear infection","HPO_Name__c":"Otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007274","HPO_Name__c":"Recurrent bacterial meningitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410302","HPO_Name__c":"Decreased specific antibody response to protein-conjugated polysaccharide vaccine","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200117","HPO_Name__c":"Recurrent upper and lower respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormal deviation from normal levels of IgG immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410242","HPO_Synonym__c":"Abnormal circulating IgG level; Abnormal IgG level in blood","HPO_Name__c":"Abnormal circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410303","HPO_Name__c":"Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410299","HPO_Name__c":"Decreased specific antibody response to polysaccharide vaccine","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002099","HPO_Synonym__c":"Asthma; Bronchial asthma","HPO_Name__c":"Asthma","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030374","HPO_Name__c":"Decreased proportion of memory B cells","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002848","HPO_Synonym__c":"Depressed antibody response to polysaccharide antigens; Low specific anti-polysaccharide antibody titer; Specific anti-polysaccharide antibody deficiency","HPO_Name__c":"Decreased specific anti-polysaccharide antibody level","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormal deviation from normal levels of IgM immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410243","HPO_Synonym__c":"Abnormal circulating IgM level; Abnormal IgM level in blood","HPO_Name__c":"Abnormal circulating IgM concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the nasal mucosa with nasal congestion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012384","HPO_Synonym__c":"Nasal inflammation","HPO_Name__c":"Rhinitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010976","HPO_Synonym__c":"B cell deficiency; B cell lymphopenia; B lymphocytopenia; Decreased B cell count; Low B cell count; Reduction in B cell number","HPO_Name__c":"Decreased total B cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410300","HPO_Name__c":"Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410295","HPO_Name__c":"Complete or near-complete absence of specific antibody response to tetanus vaccine","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000246","HPO_Synonym__c":"Sinus inflammation","HPO_Name__c":"Sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormal deviation from normal levels of IgA immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410240","HPO_Synonym__c":"Abnormal circulating IgA level; Abnormal IgA level in blood","HPO_Name__c":"Abnormal circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031949","HPO_Synonym__c":"Recurrent bacterial URI","HPO_Name__c":"Recurrent bacterial upper respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70593","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001047","HPO_Synonym__c":"Allergic eczema; Atopic dermatitis, chronic; Atopic eczema; Dermatitis, Atopic; Infantile eczema; Neurodermatitis; Prurigo Besnier","HPO_Name__c":"Atopic dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["abnormal specific antibody response"," decreased specific antibody in blood"," immunodeficiency due to selective anti-polysaccharide antibody deficiency"," specific anti-polysaccharide antibody deficiency"," specific antibody deficiency"]}