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ERN-RITA

ERN-RITA

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
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    • MeRITA Registry
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  • About
    • RITA: A Unique Opportunity
    • Mission, Goals and Objectives
    • Governance
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    • About ERNS
    • Monitoring
  • Rare diseases
  • Primary immunodeficiencies (PID)
  • Isotype or light chain deficiencies with generally normal numbers of B cells
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

Isotype or light chain deficiencies with generally normal numbers of B cells

Disease information Hide
LinksIPOPI
Patient organisations Show
LinksIPOPI - International Patient Organisation for Primary Immunodeficiencies HAE Junior

Diseases

Ig heavy chain mutations and deletionsDisease detail IGKC deficiencyDisease detail Isolated IgG subclass deficiencyDisease detail IgA with IgG subclass deficiencyDisease detail Specific antibody deficiency with normal Ig concentrations and normal numbers of B cellsDisease detail Transient hypogammaglobulinemia of infancy with normal numbers of B cellsDisease detail CARD 11 gain of functionDisease detail PI3KR1 loss of functionDisease detail Activated PI3K-δDisease detail
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Scientific societies & Patient organisations

Network coordination

UMC Utrecht
Heidelberglaan 100
3584 CX Utrecht
Netherlands
VAT NL004205315B01

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