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 deficiëntie of G6PD deficiëntie
   
   
    
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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