Immune phenotyping in primary immunodeficiency
PID - Primary immunodeficiency
- Combined T-cell and B-cell immunodeficiencies
- T- B+ SCID
- T- B- SCID
- Omenn syndrome
- DNA ligase IV
- Cernunnos/XLF deficiency
- CD40 ligand deficiency
- CD40 deficiency
- PNP deficiency
- CD3γ deficiency
- CD8 deficiency
- ZAP-70 deficiency
- Ca++ channel deficiency
- MHC class I deficiency
- MHC class II deficiency
- Winged helix deficiency (nude)
- CD25 deficiency
- STAT5b deficiency
- Predominantly antibody deficiencies
- Severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells
- Severe reduction in serum IgG and IgA with normal, low or very low numbers of B cells
- Severe reduction in serum IgG and IgA with normal/elevated IgM and normal numbers of B cells
- Isotype or light chain deficiencies with normal numbers of B cells
- Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells
- Transient hypogammaglobulinemia of infancy with normal numbers of B cells
- Other well defined immunodeficiency syndromes
- Diseases of immune dysregulation
- Immunodeficiency with hypopigmentation
- Familial hemophagocytic lymphohistiocytosis syndromes
- X-linked lymphoproliferative syndrome
- Syndromes with autoimmunity
- Congenital defects of phagocyte number, function, or both
- Severe congenital neutropenias
- Kostmann disease
- Cyclic neutropenia
- X-linked neutropenia/myelodysplasia
- P14 deficiency
- Leukocyte adhesion deficiency (LAD) type 1
- Leukocyte adhesion deficiency type 2
- Leukocyte adhesion deficiency type 3
- Rac 2 deficiency
- β-Actin deficiency
- Localized juvenile periodontitis
- Papillon-Lefèvre syndrome
- Specific granule deficiency
- Shwachman-Diamond syndrome
- X-linked chronic granulomatous disease
- Autosomal chronic granulomatous diseases
- Neutrophil G-6PD deficiency
- IL-12 and IL-23 receptor β 1 chain deficiency
- IL-12p40 deficiency
- IFN-γ receptor 1 deficiency
- IFN-γ receptor 2 deficiency
- STAT1 deficiency (2 forms)
- Defects in innate immunity
- Autoinflammatory disorders
- Familial Mediterranean fever
- TRAPS
- Hyper-IgD syndrome
- Muckle-Wells syndrome
- Familial cold autoinflammatory syndrome
- Neonatal-onset multisystem inflammatory disease (NOMID) or chronic infantile neurologic cutaneous and articular (CINCA) syndrome
- Pyogenic sterile arthritis, pyoderma gangrenosum, acne syndrome
- Blau syndrome
- Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)
- Complement deficiencies
- C1q deficiency
- C1r deficiency
- C1s deficiency
- C4 deficiency
- C2 deficiency
- C3 deficiency
- C5 deficiency
- C6 deficiency
- C7 deficiency
- C8a deficiency
- C8b deficiency
- C9 deficiency
- C1 inhibitor deficiency
- Factor I deficiency
- Factor H deficiency
- Factor D deficiency
- Properdin deficiency
- MBP deficiency
- MASP2 deficiency
- Complement receptor 3 deficiency
- Membrane cofactor protein (CD46) deficiency
- MAC inhibitor (CD59) deficiency
- Paroxysmal nocturnal hemoglobinuria
Our sponsors and partners
