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European Reference Network for Immunodeficiency, Autoinflammatory, Autimmune and Pediatric Rheumatic disea

The European Reference Network that aims at improving the care of patients with Rare Immunological Disorders

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About

Rare diseases
Primary immunodeficiencies (PID)
T regulatory cells genetic defects
STAT3 GOF mutations

Rare diseases

Primary immunodeficiencies (PID)
- Congenital thrombocytopenia
- T regulatory cells genetic defects
- DNA repair defects (other than those in group 1)
- Autoimmunity with or without lymphoproliferation
- Thymic defects with additional congenital anomalies
- Autoimmune lymphoproliferative syndrome (ALPS)
- Immune-osseous dysplasias
- Immune dysregulation with colitis
- Hyper-IgE syndromes (HIES)
- Type 1 Interferonopathies
- Dyskeratosis congenita (DKC) with bone marrow failure and dysfunctional telomere maintenance
- Congenital neutropenias
- Defects of Vitamin B12 and Folate metabolism
- Defects of Motility
- Anhidrotic ectodermaldysplasia with immunodeficiency (EDA-ID)
- Defects of Respiratory Burst
- Calcium channel defects
- Medelian Susceptibility to mycobacterial disease (MSMD)
- Other defects
- Epidermodysplasia verruciformis
- Severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells
- Predisposition to severe viral infection
- Severe reduction in at least 2 serum immunoglobulin isotypes with normal or low number of B cells
- Herpes simplex encephalitis (HSE)
- Severe reduction in serum IgG and IgA with normal/elevated IgM and normal numbers of B cells
- Predisposition to invasive fungal diseases
- T−B+ Severe Combined Immunodeficiency (SCID)
- Isotype or light chain deficiencies with generally normal numbers of B cells
- Chronic mucocutaneous candidiasis (CMC)
- T−B− SCID DNA recombination defects
- Familial hemophagocytic lymphohistiocytosis (FHL) syndromes without hypopigmentation
- TLR signaling pathway deficiency
- Combined immunodeficiencies generally less profound than severe combined immunodeficiency
- Familial hemophagocytic lymphohistiocytosis (FHL) syndromes with hypopigmentation

Pediatric Rheumatic diseases (PR)
- Bone disease
- Paediatric vasculitis
- Juvenile Arthritis
- Miscellaneous
- Systemic autoimmune disease

Autoimmune diseases (AI)
- Autoimmune systemic vasculitis adult and paediatric
- Autoimmune Neuroinflammation Adult and Paediatric

Autoinflammatory disorders (AID)
- Monogenic Inflammatory bowel diseases
- Miscellaneous
- Defects affecting the inflammasome
- Non inflammasome-related conditions
- Type 1 Interferonopathies

STAT3 GOF mutations

Orphacode: 438159

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