{"orpha":70593,"name":"Immunodeficiency due to selective anti-polysaccharide antibody deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPAD","Selective anti-polysaccharide antibody deficiency","Specific anti-polysaccharide antibody deficiency","Specific polysaccharide antibody deficiency"],"definition":"A rare primary immunodeficiency characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-70593/","orphanet_url":"https://www.orpha.net/en/disease/detail/70593","names":{"fr":{"name":"Déficit immunitaire par déficit sélectif en anticorps anti-polysaccharide","synonyms":["Déficit spécifique en anticorps anti-polysaccharide","Déficit spécifique en anticorps polysaccharidiques","Déficit sélectif en anticorps anti-polysaccharides","Immunodéficience par déficit sélectif en anticorps anti-polysaccharide","SPAD"],"definition":"Déficit immunitaire primaire rare caractérisé par des taux d'immunoglobulines normaux (y compris les sous-classes d'IgG) mais une altération de la réactivité des polysaccharides."},"de":{"name":"Immundefekt durch selektiven Antipolysaccharid-Antikörper-Mangel","synonyms":["SPAD","Spezifischer Antipolysaccharid-Antikörper-Mangel"],"definition":"Ein seltener primärer Immundefekt, der durch normale Immunglobulinspiegel (einschließlich IgG-Unterklassen), aber eine beeinträchtigte Polysaccharidreaktion gekennzeichnet ist."},"es":{"name":"Inmunodeficiencia por deficiencia selectiva de anticuerpos anti-polisacáridos","synonyms":["Deficiencia específica de anticuerpos anti-polisacáridos","Deficiencia específica de anticuerpos polisacáridos","Deficiencia selectiva de anticuerpos anti-polisacáridos","SPAD"],"definition":"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."},"it":{"name":"Immunodeficienza da deficit selettivo di anticorpi anti-polisaccaridi","synonyms":["Deficit selettivo di anticorpi anti-polisaccaridi","Deficit specifico di anticorpi anti-polisaccaridi","Deficit specifico di anticorpi polisaccaridici","SPAD"]},"nl":{"name":"Immuundeficiëntie door selectieve deficiëntie van antipolysacharide-antilichaam","synonyms":["SPAD","Selectieve deficiëntie van antipolysacharide-antilichaam","Specifieke deficiëntie van antipolysacharide-antilichaam","Specifieke deficiëntie van polysacharide-antilichaam"],"definition":"Een zeldzame primaire immuundeficiëntie, gekenmerkt door normale gehaltes van immunoglobulinen (inclusief IgG-subklassen) maar verstoorde respons op polysachariden."},"pt":{"name":"Imunodeficiência por deficiência seletiva de anticorpos anti-polissacarídeos","synonyms":["Deficiência seletiva de anticorpos anti-polissacarídeos","Deficiência seletiva de anticorpos polissacarídeos","SPAD"],"definition":"Uma imunodeficiência primária rara caracterizada por níveis normais de imunoglobulina (incluindo subclasses de IgG), mas com resposta prejudicada aos polissacáridos."},"pl":{"name":"Niedobór odporności związany z selektywnym niedoborem przeciwciał anty-polisacharydowych","synonyms":["SPAD","Selective anti-polysaccharide antibody deficiency","Specific anti-polysaccharide antibody deficiency","Specific polysaccharide antibody deficiency"]},"cs":{"name":"Imunodeficience způsobená selektivním deficitem anti-polysacharidových protilátek","synonyms":["SPAD","Selective anti-polysaccharide antibody deficiency","Specific anti-polysaccharide antibody deficiency","Specific polysaccharide antibody deficiency"]},"uk":{"name":"Імунодефіцит внаслідок селективного дефіциту антиполісахаридних антитіл","synonyms":["Селективний дефіцит антиполісахаридних антитіл","SPAD","Специфічний дефіцит антиполісахаридних антитіл","Дефіцит специфічних полісахаридних антитіл"],"definition":"A rare primary immunodeficiency characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness."},"zh":{"name":"选择性抗多糖抗体缺乏所致免疫缺陷","synonyms":["选择性抗多糖抗体缺乏症"]},"tr":{"name":"Selektif anti-polisakkarit antikor eksikliğine bağlı immün yetmezlik","synonyms":["Spesifik anti-polisakkarit antikor eksikliği"]}},"xrefs":[{"source":"ICD-10","code":"D80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"849949348"},{"source":"MONDO","code":"0019093","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398712","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11903","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":169443,"name":"Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells","classifications":[156,195]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28588580[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-26","source":"11445810[PMID]_28588580[PMID]","terms":[{"hpo":"HP:0410303","label":"Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410300","label":"Complete or near-complete absence of specific antibody response to pneumococcus vaccine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410299","label":"Decreased specific antibody response to polysaccharide vaccine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410302","label":"Decreased specific antibody response to protein-conjugated polysaccharide vaccine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002848","label":"Specific anti-polysaccharide antibody deficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030374","label":"Decreased proportion of memory B cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031949","label":"Recurrent bacterial upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200117","label":"Recurrent upper and lower respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012384","label":"Rhinitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010976","label":"Decreased total B cell count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007274","label":"Recurrent bacterial meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410240","label":"Abnormal IgA level","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0410242","label":"Abnormal IgG level","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0410243","label":"Abnormal IgM level","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0410295","label":"Complete or near-complete absence of specific antibody response to tetanus vaccine","frequency":"Excluded (0%)","criteria":null}]}}