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

T−B+ Severe Combined Immunodeficiency (SCID)Read more T−B− SCID DNA recombination defectsRead more Combined immunodeficiencies generally less profound than severe combined immunodeficiencyRead more Congenital thrombocytopeniaRead more DNA repair defects (other than those in group 1)Read more Thymic defects with additional congenital anomaliesRead more Immune-osseous dysplasiasRead more Hyper-IgE syndromes (HIES)Read more Dyskeratosis congenita (DKC) with bone marrow failure and dysfunctional telomere maintenanceRead more Defects of Vitamin B12 and Folate metabolismRead more Anhidrotic ectodermaldysplasia with immunodeficiency (EDA-ID)Read more Calcium channel defectsRead more Other defectsRead more Severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cellsRead more Severe reduction in at least 2 serum immunoglobulin isotypes with normal or low number of B cellsRead more Severe reduction in serum IgG and IgA with normal/elevated IgM and normal numbers of B cellsRead more Isotype or light chain deficiencies with generally normal numbers of B cellsRead more Familial hemophagocytic lymphohistiocytosis (FHL) syndromes without hypopigmentationRead more Familial hemophagocytic lymphohistiocytosis (FHL) syndromes with hypopigmentationRead more T regulatory cells genetic defectsRead more Autoimmunity with or without lymphoproliferationRead more Autoimmune lymphoproliferative syndrome (ALPS)Read more Immune dysregulation with colitisRead more Type 1 InterferonopathiesRead more Congenital neutropeniasRead more Defects of MotilityRead more Defects of Respiratory BurstRead more Medelian Susceptibility to mycobacterial disease (MSMD)Read more Epidermodysplasia verruciformisRead more Predisposition to severe viral infectionRead more Herpes simplex encephalitis (HSE)Read more Predisposition to invasive fungal diseasesRead more Chronic mucocutaneous candidiasis (CMC)Read more TLR signaling pathway deficiencyRead more

Reference centers

Center Country City    
Great Ormond Street / Royal Free Hospitals* UK London Adult unit Paediatric unit
The Newcastle upon Tyne Hospitals NHS Foundation Trust* UK Newcastle Adult unit Paediatric unit
The Leeds Teaching Hospitals NHS Trust* UK Leeds Adult unit
Karolinska University Hospital Sweden Stockholm Adult unit Paediatric unit
Hospital Universitari Vall d’Hebron Spain Barcelona Adult unit Paediatric unit
Erasmus University Medical Center Netherlands Rotterdam Adult unit Paediatric unit
Spedali Civili Brescia Italy Brescia Adult unit Paediatric unit
Ospedale San Raffaele Italy Milan Adult unit Paediatric unit
Pediatric Hospital Bambino Gesù, Rome Italy Rome   Paediatric unit
UMC Utrecht Netherlands Utrecht Adult unit Paediatric unit
Universitätsklinikum Freiburg Germany Freiburg Adult unit Paediatric unit
Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades France Paris Adult unit Paediatric unit
Klinikum der Universität München Germany Munich Adult unit Paediatric unit
University Hospital Leuven Belgium Leuven Adult unit Paediatric unit