laboratory, analysis, chemistry
1. Combined Immunodeficiency Disorders

This category includes 58 severe forms of primary immunodeficiency disorders including Severe Combined Immunodeficiency Disorder (SCID).

2. Combined Immunodeficiency Disorders with Syndromic features

This category includes 62 disorders with associated syndromic features like Hyper IgE Syndrome. 

3. Predominantly Antibody Deficiency Disorders

  • This category includes 39 disorders with antibody deficiency like X-linked agammaglobulinemia (XLA) and Common Variable Immunodeficiency disorder (CVID).

4. Diseases of Immune Dysregulation

  • This category includes 45 dysregulatory disorders like Hemophagocytic lymphohistiocytosis (HLH) and Autoimmune lymphoproliferative syndrome (ALPS)

5. Congenital Defects of Phagocytes

This category includes 41 disorders with number or functional defects of phagocytes like Chronic granulomatous disease (CGD).

6. Defects in Intrinsic and Innate Immunity

This category includes 64 disorders with increased predisposition to different Mycobacteria, fungi and viruses like   Mendelian susceptibility to mycobacterial disease (MSMD).

7. Autoinflammatory Diseases

  • This category includes 41 diseases with autoinflammatory features like Familial Mediterranean Fever (FMF).

8. Complement Deficiency Disorders

This category includes 36 disorders affecting classical and/or alternate complement pathway.

9. Bone Marrow Failure Disorders

This category includes 7 disorders with increased predisposition.

10. Phenocopies of PID

This category includes 11 disorders with somatic mutations and auto-antibodies presenting like PID.

%d bloggers like this: