Stoornissen betreffende het immuunsysteem en het verdedigingssysteem

 

 

 

Antibody Deficiencies:

 

  1. X-Linked Agammaglobulinemia;  Bruton type agammaglobulinemia

    OMIM: 300300

    OMIM: Clinical Synopsis

    Who named it?:  Ogden Carr Bruton

    GeneReviews: X-linked agammaglobulinemia (XLA)

    e-Medicine: Agammaglobulinemia


     
  2. Hyper-IgM immunodeficiency Type 1; X-Linked

    OMIM: 308230

    OMIM: Clinical Synopsis

    e-Medicine: Immunoglobulin M deficiency

     
  3. Hyper-IgM immunodeficiency , Type 2; autosomal recessive

    OMIM: 605258

    e-Medicine: Immunoglobulin M deficiency


     
  4. Hyper-IgM immunodeficiency , Type 3

    OMIM: 606843

    OMIM: Clinical Synopsis

    e-Medicine: Immunoglobulin M deficiency


     
  5. Hyper-IgM immunodeficiency , Type 4

    OMIM: 608184

    e-Medicine: Immunoglobulin M deficiency


     
  6. Common variabel immunodeficiency

    OMIM: 240500

    OMIM: Clinical Synopsis


     
  7. Selective immunoglobulin A deficiency

    OMIM: 137100

    OMIM: Clinical Synopsis

    e-Medicine: Immunoglobulin A deficiency


     
  8. Severe combined immunodeficiency, X-Linked; SCIDX1

    OMIM: 300400

    OMIM: Clinical Synopsis

    e-Medicine: Severe combined immunodeficiency

    Extra informatie: The SCID Homepage
     

 

 

T Cell and Combined Immunodeficiency Disorders:

 

  1. Severe combined immunodeficiency, X-Linked; SCIDX

    OMIM: 300400

    OMIM: Clinical Synopsis

    e-Medicine: Severe combined immunodeficiency

    Extra informatie: The SCID Homepage


     
  2. Severe combined immunodeficiency 1, SCID1

    OMIM: 202500

    OMIM: Clinical Synopsis


     
  3. Ataxia Telangiectasia ( AT )  ( Louis-Bar Syndrome )

    OMIM: 208900

    OMIM: Clinical Synopsis

    e-Medicine: Ataxia Telangiectasia


     
  4. Bloom Syndrome

    OMIM: 210900

    OMIM: Clinical Synopsis

    e-Medicine: Bloom Syndrome


     
  5. Nijmegen breakage syndrome

    OMIM: 251260

    OMIM: Clinical Synopsis

    GeneReviews: Nijmegen breakage syndrome

    e-Medicine: Nijmegen breakage syndrome


     
  6. Bare lymphocyte syndrome type II

    OMIM: 209920

    OMIM: Clinical Synopsis


     
  7. Autoimmune lymphoproliferative syndrome (ALPS)

    OMIM: 601859

    OMIM: Clinical Synopsis

    e-Medicine: Lymphoproliferative disorders


     
  8. Autoimmunity-autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy, APECED

    OMIM: 240300

    OMIM: Clinical Synopsis

    MedicineNet: APECED


     
  9. Wiskott-Aldrich syndrome (WAS)

    OMIM: 301000

    OMIM: Clinical Synopsis

    e-Medicine: Wiskott-Aldrich syndrome

    Who named it?: Alfred Wiskott   ;  Robert Anderson Aldrich


     
  10. Cartilage-hair hypoplasia

    OMIM: 250250

    OMIM: Clinical Synopsis

    e-Medicine: Cartlilage-hair hypoplasia

 

 

Genetically Determined Disorders of the Complement System:

 

  1. Algemeen: e-Medicine: Complement Deficiency


     
  2. C1q Deficiency

    OMIM: 120570


     
  3. C1r/C1s Deficiency

    OMIM: 216950

    OMIM: Clinical Synopsis


     
  4. C4 Deficiency

    OMIM: 120790

    OMIM: Clinical Synopsis


     
  5. C2 deficiency       

    OMIM: 217000

    OMIM: Clinical Synopsis


     
  6. C3 Deficiency

    OMIM: 120700

    OMIM: Clinical Synopsis


     
  7. C5 Deficiency

    OMIM: 120900

    OMIM: Clinical Synopsis


     
  8. C6 Deficiency

    OMIM: 217050

    OMIM: Clinical Synopsis


     
  9. C7 Deficiency

    OMIM: 217070

    OMIM: Clinical Synopsis


     
  10. C8 Deficiency Type I

    OMIM:
    120950

    OMIM: Clinical Synopsis


     
  11. C8 Deficiency Type II

    OMIM: 120960

    OMIM: Clinical Synopsis


     
  12. C9 Deficiency

    OMIM: 120940


     
  13. Factor 1 deficiency


     
  14. Factor H Deficiency

    OMIM: 134370

    OMIM: Clinical Synopsis


     
  15. Factor D Deficiency

    OMIM: 134350

    OMIM: Clinical Synopsis


     
  16. Properdin Deficiency

    OMIM: 312060

    OMIM: Clinical Synopsis


     
  17. C4b Binding Protein Deficiency


     
  18. CD59 Deficiency

    OMIM: 107271


     

 

Leukocyte Adhesion Deficiencies:

 

  1. Leukocyte Adhesion Deficiency ( LAD Type I )

    OMIM: 116920

    OMIM: Clinical Synopsis

    e-Medicine: Leukocyte Adhesion Deficiency


     
  2. Leukocyte Adhesion Deficiency type 2 ( LAD Type II )

    OMIM: 266265

    OMIM: Clinical Synopsis

    e-Medicine: Leukocyte Adhesion Deficiency


     
  3. specific granule deficiency

    OMIM: 245480

    OMIM: Clinical Synopsis


     

 

Inherited Disorders of Phagocyte Killing:

 

  1. Chronic Granulomatous Disease ( CGD )

    OMIM: 306400

    OMIM: Clinical Synopsis

    e-Medicine: Chronic Granulomatous Disease


     
  2. Glucose-6-Phosphate Dehydrogenase Deficiency ( G6PD )

    OMIM: 305900

    OMIM: Clinical Synopsis

    Extra informatie: Glucose-6-fosfaat dehydrogenase deficiŽntie of G6PD deficiŽntie


     
  3. Myeloperoxidase Deficiency ( MPO Deficiency )

    OMIM: 254600

    OMIM: Clinical Synopsis

    e-Medicine: Myeloperoxidase deficiency


     
  4. Glutathione Synthetase Deficiency

    OMIM: 231900

    OMIM: Clinical Synopsis

    e-Medicine: Glutathione synthetase deficiency


     
  5. Glutathione Reductase Deficiency

    OMIM: 138300

    OMIM: Clinical Synopsis

     

 

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