{"orpha":293978,"name":"Deficiency in anterior pituitary function-variable immunodeficiency syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DAVID syndrome"],"definition":"A rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293978/","orphanet_url":"https://www.orpha.net/en/disease/detail/293978","names":{"fr":{"name":"Syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable","synonyms":["Syndrome DAVID"],"definition":"Maladie endocrinienne génétique rare caractérisée par l'association d'un déficit immunitaire commun variable, se manifestant par une hypogammaglobulinémie et des infections récurrentes ou sévères des sinus et des poumons survenant dans l'enfance et d'un déficit symptomatique en hormone adrénocorticotrope (ACTH) résultant d'un déficit en hormones antéhypophysaires, survenant éventuellement de nombreuses années plus tard."},"de":{"name":"Störung des Hypophysenvorderlappens-variables Immundefekt-Syndrom","synonyms":["DAVID-Syndrom"],"definition":"Das Syndrom ist eine seltene, genetisch bedingte endokrine Erkrankung, die durch das Auftreten eines allgemeinen variablen Immundefekts (CVID) gekennzeichnet ist, der sich mit einer Hypogammaglobulinämie und wiederkehrenden oder schweren, in der Kindheit auftretenden sinopulmonalen Infektionen manifestiert. In Assoziation tritt, möglicherweise erst viele Jahre später, ein symptomatischer adrenokortikotroper Hormonmangel (ACTH) auf, der sich als Folge eines Hypophysenvorderhormonmangels entwickelt."},"es":{"name":"Síndrome de insuficiencia de la adenohipófisis-inmunodeficiencia variable","synonyms":["Síndrome DAVID","Síndrome de insuficiencia adenohipofisaria-inmunodeficiencia variable"],"definition":"El síndrome de insuficiencia de la adenohipófisis - inmunodeficiencia variable es una enfermedad endocrina, genética y poco frecuente, caracterizada por la asociación de inmunodeficiencia común variable, que se manifiesta con hipogammaglobulinemia e infecciones sinopulmonares recurrentes o graves, de inicio en la infancia, seguidas, posiblemente muchos años después, por una deficiencia sintomática de hormona adrenocorticotropa (ACTH) resultante de la deficiencia de hormonas de la hipófisis anterior."},"it":{"name":"Sindrome da deficit della funzione dell'ipofisi anteriore ed immunodeficienza variabile","synonyms":["Sindrome DAVID"],"definition":"La sindrome che associa il deficit funzionale dell'ipofisi anteriore e l'immunodeficienza variabile è un'endocrinopatia genetica rara, caratterizzata da immunodeficienza variabile comune, che esordisce con ipogammaglobulinemia ed infezioni sinopolmonari ricorrenti o gravi ad esordio infantile, seguite, a distanza di molti anni, dal deficit sintomatico dell'ormone adrenocorticotropo (ACTH), secondario al difetto dell'ormone dell'ipofisi anteriore."},"nl":{"name":"Disfunctie van adenohypofyse - variabele immuundeficiëntie-syndroom","synonyms":["DAVID-syndroom"],"definition":"Deficiëntie van de voorste hypofysefunctie - variabele immuundeficiëntie-syndroom is een zeldzame, genetische endocriene ziekte, en wordt gekarakteriseerd door de associatie van normale variabele immuundeficiëntie, die zich manifesteert met hypogammaglobulinemie en recurrente of ernstige sinopulmonale infecties met aanvang in de kindertijd, gevolgd, mogelijk vele jaren later, door symptomatische deficiëntie van adrenocorticotroop hormoon (ACTH) als gevolg van hormoondeficiëntie van de voorste hypofyse."},"pt":{"name":"Síndrome de deficiência da função da adenohipófise-imunodeficiência variável","synonyms":["Síndrome DAVID"]},"pl":{"name":"Zespół Niedobór funkcji części przedniej przysadki-zmienny Niedobór odporności","synonyms":["Zespół DAVID"],"definition":"*Zespół niedobór funkcji części przedniej przysadki-zmienny niedobór odporności jest rzadką, genetycznie uwarunkowaną chorobą endokrynologiczną, która charakteryzuje się współistnieniem zmiennego niedoboru odporności, objawiającego się hipogammaglobulinemią i nawracającymi lub ciężkimi infekcjami zatok obocznych nosa i płuc o początku w okresie dzieciństwa, po których, prawdopodobnie wiele lat później, pojawia się objawowy niedobór hormonu adrenokortykotropowego (ACTH), związany z jego niedoborem w przednim płacie przysadki mózgowej."},"cs":{"name":"Syndrom zahrnující deficit funkce adenohypofýzy a variabilní imunodeficienci","synonyms":["DAVID syndrom"]},"uk":{"name":"Синдром дефіциту функції передньої частки гіпофіза-варіабельного імунодефіциту","synonyms":["Синдром DAVID"],"definition":"A rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency."},"zh":{"name":"垂体前叶功能缺陷-变异性免疫缺陷综合征","synonyms":["垂体前叶功能缺陷-变异性免疫缺陷综合征"],"definition":"垂体前叶功能缺乏-变异型免疫缺陷综合征是一种罕见的遗传性内分泌疾病，其特征是与常见变异型免疫缺陷相关，表现为低丙种球蛋白血症和反复或重度儿童期鼻窦及肺感染，症状性促肾上腺皮质激素（ACTH）缺乏导致垂体前叶激素缺乏。"},"tr":{"name":"Anterior hipofiz fonksiyonu eksikliği-değişken immün yetmezlik sendromu","synonyms":["DAVID sendromu"]}},"xrefs":[{"source":"OMIM","code":"615577","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017407","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751122","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":696870,"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","classifications":[156,195]},{"orpha":95495,"name":"Disease associated with non-acquired combined pituitary hormone deficiency","classifications":[156,193]}],"children":[],"genes":[{"symbol":"NFKB2","name":"nuclear factor kappa B subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25524009[PMID]_24140114[PMID]","hgnc":"7795","ensembl":"ENSG00000077150","omim":"164012","loci":["10q24.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"22013103[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-04","source":"12269656[PMID]_1645668[PMID]_25524009[PMID]_22013103[PMID]","terms":[{"hpo":"HP:0011735","label":"Adrenocorticotropin deficient adrenal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002920","label":"Decreased circulating ACTH level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001325","label":"Hypoglycemic coma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002837","label":"Recurrent bronchitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001988","label":"Recurrent hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100776","label":"Recurrent pharyngitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011108","label":"Recurrent sinusitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005365","label":"Severe B lymphocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004332","label":"Abnormal lymphocyte morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012504","label":"Abnormal size of pituitary gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100803","label":"Abnormality of the periungual region","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007418","label":"Alopecia totalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030349","label":"Decreased circulating androgen level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Excluded (0%)","criteria":null}]}}