Primary Immunodeficiency Flashcards
What is the DiGeorge syndrome?
Developmental failure of the 3rd and 4th pharyngeal pouches due to 22q11 microdeletion
What are the characteristics of the DiGeorge syndrome?
- T cell deficiency (problem-fighting viruses and fungi)
- Hypocalcemia
- Abnormalities of the superior part of the heart, great vessels and face
What are the characteristics of the SCID?
- Susceptibility to fungal, viral, bacterial and protozoal infections
- Including opportunistic infection and live vaccines.
what is the X linked agammaglobulinemia?
Complete lack of immunoglobulin due to disorder b cell maturation
- Presentation after 6 m of life
What is the gene mutated in X linked agammaglobulinemia?
Bruton Tyrosine Kinase (BTK)
when you don’t have Ig. What type of infection can you have?
Bacterial, enterovirus and giardia infection
In what primary immunodeficiency is contraindicated live vaccines such as polio?
X linked agammaglobulinemia?
What is the most common Ig deficiency?
IgA deficiency
– increased risk for mucosal infections
Which GI defect is associated with IgA deficiency?
Celiac disease
What is CVID ( common variable immunodeficiency)? And having this, there is an increased risk of what pathology?
- Low Ig due to B cells or helper T cells defect
- Increased risk for autoimmune disease and lymphoma
What is hyper IgM syndrome?
Elevated IgM due to mutated CD40L or CD40 receptor
What Ig arent present in the hyper IgM syndrome?
IgA, IgG, IgE
What is the triad of the Wiskott- Aldrich syndrome?
- thrombocytopenia
- Eczema
- Recurrente infections
***X linked, WASP gene mutation
An increase risk of Neisseria Infection is seen in what primary immunodeficiency?
C5- C9 deficiency
Due to C1 inhibitor deficiency
Complemental deficiency is characterized of ?
Edema in skin (specially in periorbital and mucosal surfaces )
