Primary immunodeficiencies (PID)
About
Many PID patients have a long history of infections before a PID diagnosis is made and chronic sequelae are common (bronchiectasis, malabsorption, etc.). Increasing awareness is of utmost importance to ensure correct diagnosis and treatment and to avoid unnecessary complications. Precise diagnosis can lead not only to specialist care for the patient but also to genetic counseling / prenatal diagnosis for future children. Treatment options, such as life-long immunoglobulin (lg) replacement or hematopoeitic stem cell transplantation (HSCT), are effective and lifesaving.
LinksIPOPI
DownloadsESID/ERN-RITA
Disease groups
Thymic defects with additional congenital anomaliesRead more Autoimmune lymphoproliferative syndrome (ALPS)Read more Immune-osseous dysplasiasRead more Immune dysregulation with colitisRead more Hyper-IgE syndromes (HIES)Read more Type 1 InterferonopathiesRead more Dyskeratosis congenita (DKC) with bone marrow failure and dysfunctional telomere maintenanceRead more Congenital neutropeniasRead more Defects of Vitamin B12 and Folate metabolismRead more Defects of MotilityRead more Anhidrotic ectodermaldysplasia with immunodeficiency (EDA-ID)Read more Defects of Respiratory BurstRead more Calcium channel defectsRead more Medelian Susceptibility to mycobacterial disease (MSMD)Read more Other defectsRead more Epidermodysplasia verruciformisRead more Severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cellsRead more Predisposition to severe viral infectionRead more Severe reduction in at least 2 serum immunoglobulin isotypes with normal or low number of B cellsRead more Herpes simplex encephalitis (HSE)Read more Severe reduction in serum IgG and IgA with normal/elevated IgM and normal numbers of B cellsRead more Predisposition to invasive fungal diseasesRead more T−B+ Severe Combined Immunodeficiency (SCID)Read more Isotype or light chain deficiencies with generally normal numbers of B cellsRead more Chronic mucocutaneous candidiasis (CMC)Read more T−B− SCID DNA recombination defectsRead more Familial hemophagocytic lymphohistiocytosis (FHL) syndromes without hypopigmentationRead more TLR signaling pathway deficiencyRead more Combined immunodeficiencies generally less profound than severe combined immunodeficiencyRead more Familial hemophagocytic lymphohistiocytosis (FHL) syndromes with hypopigmentationRead more Congenital thrombocytopeniaRead more T regulatory cells genetic defectsRead more DNA repair defects (other than those in group 1)Read more Autoimmunity with or without lymphoproliferationRead moreReference centers
| Center | Country | City |
| Ospedale Ca Foncello TREVISO | Italy | Treviso |
| AOU Policlinico Umberto I di Roma | Italy | Roma |
| Naples AOU Federico II | Italy | Naples |
| Milan Fondazione IRCCS CA'Granda Ospedale Maggiore Policlinico | Italy | Milano |
| Ulm University Medical Center | Germany | Ulm |
| Tübingen University Clinic | Germany | Tübingen |
| Dresden University Hospital | Germany | Dresden |
| Berlin Charite Universitätsmedizin | Germany | Berlin |
| Helsinki University Hospital | Finland | Helsinki |
| Motol University Hospital | Czech Rep. | Prague |
| Gent University Hospital | Belgium | Gent |
| Tallaght University Hospital | Ireland | Tallaght |
| Leiden University Medical Center | Netherlands | Leiden |
| Radboud University Medical Center Nijmegen | Netherlands | Nijmegen |
| Oslo University Hospital | Norway | Oslo |
| Krakow University Hospital | Poland | Krakow |
| Pomnik-Centrum Zdrowia Dziecka | Poland | Warszaw |
| Bratislava National Institute of Children’s Diseases | Slovakia | Bratislava |
| Centro Hospitalar Universitário Lisboa Norte | Portugal | Lisbon |
| Centro Hospitalar Universitário de Santo António | Portugal | Porto |
| Sant Joan de Déu & Hospital Clínic de Barcelona | Spain | Barcelona |
| Hospital Universitario La Paz | Spain | Madrid |
| Sahlgrenska University Hospital | Sweden | Göteborg |
| Hospital Centre of Luxembourg | Luxembourg | Luxembourg |
| Mater Dei Hospital | Malta | Valetta |
| Rigshospitalet Copenhagen University | Denmark | Copenhagen |
| Aarhus University Hospital | Denmark | Aarhus |
| Hospital of Lithuanian University of Health Sciences Kauno Klinikos | Lithuania | Kauno |
| Vilnius University Hospital Santaros Klinikos | Lithuania | Vilnius |
| Karolinska University Hospital | Sweden | Stockholm |
| Hospital Universitari Vall d’Hebron | Spain | Barcelona |
| Erasmus University Medical Center | Netherlands | Rotterdam |
| Spedali Civili Brescia | Italy | Brescia |
| Ospedale San Raffaele | Italy | Milan |
| Pediatric Hospital Bambino Gesù, Rome | Italy | Rome |
| UMC Utrecht | Netherlands | Utrecht |
| Universitätsklinikum Freiburg | Germany | Freiburg |
| Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades | France | Paris |
| Klinikum der Universität München | Germany | Munich |
| University Hospital Leuven | Belgium | Leuven |
| Great Ormond Street / Royal Free Hospitals* | UK | London |
| The Newcastle upon Tyne Hospitals NHS Foundation Trust* | UK | Newcastle |
| The Leeds Teaching Hospitals NHS Trust* | UK | Leeds |