Inborn error of immunity

Part of

Sub-types of Inborn error of immunity

• Lymphoproliferative syndrome 70 trials · 100 incl. sub-types
  8 sub-types

  • Castleman disease 8 trials · 18 incl. sub-types Sub-types →
  • Autoimmune lymphoproliferative syndrome 11 trials · 12 incl. sub-types Sub-types →
  • X-linked lymphoproliferative syndrome 7 trials · 11 incl. sub-types Sub-types →
  • Dianzani autoimmune lymphoproliferative disease 0 trials
  • Atypical lymphoproliferative disorder 0 trials
  • Lymphoproliferative syndrome 1 0 trials
  • Lymphoproliferative syndrome 2 0 trials
  • Severe combined immunodeficiency due to CD70 deficiency 0 trials
• B cell deficiency 5 trials · 86 incl. sub-types
  5 sub-types

  • Agammaglobulinemia 16 trials · 52 incl. sub-types Sub-types →
  • Hyperimmunoglobulin syndrome 0 trials · 34 incl. sub-types Sub-types →
  • Selective immunoglobulin deficiency disease 1 trial · 4 incl. sub-types Sub-types →
  • PAX5-related B lymphopenia and autism spectrum disorder 0 trials
  • Immunoglobulin beta deficiency 0 trials
• Phagocyte bactericidal dysfunction 0 trials · 37 incl. sub-types
  1 sub-type

  • Chronic granulomatous disease 37 trials Sub-types →
• Complement deficiency 2 trials · 28 incl. sub-types
  8 sub-types

  • Atypical hemolytic-uremic syndrome 19 trials Sub-types →
  • Classic complement early component deficiency 0 trials · 7 incl. sub-types Sub-types →
  • Disorder of lectin complement activation pathway 0 trials · 1 incl. sub-types Sub-types →
  • Complement factor I deficiency 0 trials
  • Complement receptor deficiency 0 trials
  • Immunodeficiency due to a classical component pathway complement deficiency 0 trials Sub-types →
  • Immunodeficiency due to a late component of complement deficiency 0 trials Sub-types →
  • Recurrent Neisseria infections due to factor D deficiency 0 trials
• Hereditary hemophagocytic lymphohistiocytosis 8 trials · 16 incl. sub-types
  11 sub-types

  • Chediak-Higashi syndrome 9 trials
  • Griscelli syndrome type 2 1 trial
  • Familial hemophagocytic lymphohistiocytosis 3 1 trial
  • Hermansky-Pudlak syndrome 2 0 trials
  • Hermansky-Pudlak syndrome 9 0 trials
  • Familial hemophagocytic lymphohistiocytosis 2 0 trials
  • Familial hemophagocytic lymphohistiocytosis 4 0 trials
  • Familial hemophagocytic lymphohistiocytosis 5 0 trials
  • Familial hemophagocytic lymphohistiocytosis type 1 0 trials
  • Hemophagocytic lymphohistiocytosis due to RhoG deficiency 0 trials
  • Hemophagocytic lymphohistiocytosis, familial, 6 0 trials
• Aicardi-Goutieres syndrome 9 trials
  10 sub-types

  • Aicardi-Goutieres syndrome 1 2 trials Sub-types →
  • Aicardi-Goutieres syndrome 2 0 trials
  • Aicardi-Goutieres syndrome 3 0 trials
  • Aicardi-Goutieres syndrome 4 0 trials
  • Aicardi-Goutieres syndrome 5 0 trials
  • Aicardi-Goutieres syndrome 6 0 trials
  • Aicardi-Goutieres syndrome 7 0 trials
  • Aicardi-Goutieres syndrome 8 0 trials
  • Aicardi-Goutieres syndrome 9 0 trials
  • Basal ganglia calcification, idiopathic, childhood-onset 0 trials
• Familial isolated congenital asplenia 6 trials
• Chronic mucocutaneous candidiasis 4 trials
  12 sub-types

  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 0 trials
  • Candidiasis, familial, 1 0 trials
  • Candidiasis, familial, 3 0 trials
  • Candidiasis, familial, 4 0 trials
  • Candidiasis, familial, 6 0 trials
  • Candidiasis, familial, 8 0 trials
  • Candidiasis, familial, 9 0 trials
  • Chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation 0 trials
  • Chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation 0 trials
  • Chronic mucocutaneous candidiasis due to lymphokine deficiency 0 trials
  • Chronic mucocutaneous candidiasis due to monocyte chemotactic disorder 0 trials
  • Immunodeficiency 51 0 trials
• Immunoglobulin heavy chain deficiency 0 trials · 2 incl. sub-types
  1 sub-type

  • Selective IgG subclass deficiency 2 trials
• A20 haploinsufficiency 1 trial
• BENTA disease 1 trial
• Immunodysregulation with variable immunodeficiency and autoimmunity 1 trial
• Immuno-osseous dysplasia 0 trials · 1 incl. sub-types
  4 sub-types

  • Cartilage-hair hypoplasia 1 trial Sub-types →
  • Schimke immuno-osseous dysplasia 0 trials
  • Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 0 trials
  • Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome 0 trials
• IL10-related early-onset inflammatory bowel disease 0 trials
  2 sub-types

  • Inflammatory bowel disease 25 0 trials
  • Inflammatory bowel disease 28 0 trials
• NK cell deficiency 0 trials
• Say-Barber-Miller syndrome 0 trials
• T cell and NK cell immunodeficiency 0 trials
• T-cell immunodeficiency with epidermodysplasia verruciformis 0 trials
• X-linked immunoneurologic disorder 0 trials
• Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 0 trials
• Combined immunodeficiency due to moesin deficiency 0 trials
• Combined immunodeficiency with faciooculoskeletal anomalies 0 trials
• Dendritic cell deficiency 0 trials
• Ectodermal dysplasia and immune deficiency 0 trials
  2 sub-types

  • Ectodermal dysplasia and immunodeficiency 1 0 trials
  • Ectodermal dysplasia and immunodeficiency 2 0 trials
• Hepatic veno-occlusive disease-immunodeficiency syndrome 0 trials
• Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency 0 trials
• Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 0 trials
• Immunodeficiency 28 0 trials
• Immunodeficiency 33 0 trials
• Immunodeficiency 37 0 trials
  1 sub-type

  • Combined immunodeficiency with low Ig due to BCL10 deficiency 0 trials
• Immunodeficiency 39 0 trials
• Immunodeficiency 47 0 trials
• Immunodeficiency 49 0 trials
• Immunodeficiency with defective T-cell response to interleukin 1 0 trials
• Immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein 0 trials
• Inflammatory bowel disease-recurrent sinopulmonary infections syndrome 0 trials
• Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 0 trials
• Properdin deficiency, X-linked 0 trials
• Recurrent infections associated with rare immunoglobulin isotypes deficiency 0 trials
• Trichohepatoenteric syndrome 0 trials
  2 sub-types

  • Trichohepatoenteric syndrome 1 0 trials
  • Trichohepatoenteric syndrome 2 0 trials