Skip to content

Home
contact-rita@ern-net.eu
Endorsement
FAQ
Contact
RITA Registry
News & Events

Facebook
LinkedIn
Twitter

Search for:

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

Reference centers
Disease information
Virtual consultations
Activities
- Webinars
- Working Groups
Patients
- ERNs and ePAGs
- RIPAG
About

Rare diseases
Primary immunodeficiencies (PID)
Congenital neutropenias
Kostmann Disease (SCN3)

Rare diseases

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

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

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

Primary immunodeficiencies (PID)
- 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
- 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)

Kostmann Disease (SCN3)

Orphacode: 99749

Subscribe
to our Newsletter

→ Access the newsletter archive

Leave this field empty if you're human:

Scientific societies & Patient organisations

Network coordination

UMC Utrecht
Heidelberglaan 100
3584 CX Utrecht
Netherlands
VAT NL004205315B01

Follow us & get in touch:

The contents of this webpage are the sole responsibility of ERN-RITA and do not necessarily reflect the opinion of the European Union.

© 2021 ERN RITA. All rights reserved. The RITA logo was designed by Luis Bordalo.