Primary immunodeficiencies (PID)


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.

Disease groups

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 more 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

Reference 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