Primary Adaptive Immunodeficiency Flashcards
How are Primary Adaptive Immunodeficiencies acquired?
Genetics
What are 3 Primary Adaptive Immunodeficiency - lymphocyte maturation disorders?
SCID
DiGeorge Syndrome
X-linked Agammaglobulinemia
What are 3 Primary Adaptive Immunodeficiency - lymphocyte maturation disorders
SCID
DiGeorge Syndrome
X-linked Agammaglobulinemia
What are 3 Primary Adaptive Immunodeficiency - lymphocyte activation/function disorders?
Hyper - IgM Syndrome
CVID
IgA Deficiency
What are 3 Primary Adaptive Immunodeficiency - lymphocyte activation/function disorders?
Hyper - IgM Syndrome
CVID
IgA Deficiency
SCID
Severe Combined Immunodeficiency
SCID has deficiencies in what cells?
B AND T cells
The Autosomal Recessive version of SCID lacks what and has a buildup of what?
Lacks Adenosine deaminase
Has a buildup of toxic purines
The Autosomal Recessive version of SCID lacks Adenosine Deaminase. What does that block?
T cell formation
If T cell formation is blocked, what will that suppress?
B cell function
The X-linked version of SCID has mutations in?
IL receptors
The X-linked version of SCID has mutations in IL receptors. What does this decrease?
T and B cells
SCID has deficiencies in what cells?
B AND T cells
DiGeorge Syndrome has a deletion of?
22q11
Deletion of 22q11
DiGeorge Syndrome
What cell is specifically impacted in DiGeorge Syndrome?
T cells due to lack of thymus
What pharyngeal pouches are missing/partial with DiGeorge syndrome?
3 and 4
- No thymus, No parathyroid, great vessel/heart abnormalities
Symptoms of DiGeorge Syndrome?
T cell deficiency that could impact B cells function
- Facial/cardiac anomalies, hypocalcemia (tetany)
Symptoms of DiGeorge Syndrome?
T cell deficiency that could impact B cells function
- Facial/cardiac anomalies, hypocalcemia (tetany)
What gene on what chromosome is affected by X-linked Agammaglobulinemia?
BTK gene on X chromosome
Bruton Tyrosine Kinase
Defect in BTK gene
X-linked Agammaglobulinemia
What cells are affected and how with X-linked Agammaglobulinemia?
Pre-B cells can’t mature
Those with X-linked Agammaglobulinemia’s risk for infection increases as?
Mother’s antibodies wane
Hyper-IgM Syndrome has mutations where?
CD40/CD40L
Mutations in CD40/CD40L
Hyper-IgM Syndrome
What is the CD40/CD40L essential for?
T cells helping B cells class switch
What mechanism is impaired with Hyper-IgM Syndrome?
T cells helping B cells class switch -- B cells unable to class switch due to mutations in CD40/CD40L
What antibodies will be increased with Hyper-IgM Syndrome?
IgM
Will the other antibodies by increased with Hyper-IgM Syndrome?
NO - they will be decreased
CVID
Common Variable Immunodeficiency
What is the most common Primary Adaptive Immunodeficiency?
CVID
CVID is what?
Multiple disorders of hypogammaglobulinemia
CVID is a disease of_____
exclusion
CVID has later presentation. What symptoms will those with CVID have?
Recurrent pulmonary/sinus infections
Anemia/thrombocytopenia
Chronic diarrhea
What symptoms will those with CVID have?
Recurrent pulmonary/sinus infection
Anemia/thrombocytopenia
Chronic diarrhea
IgA deficiency has decreased defense against?
Inhaled and Ingested pathogens
What types of infections will those with IgA deficiency get?
Pulmonary
GI
Bladder
What serious condition is associated with IgA deficiency?
Transfusion - related Anaphylaxis
What is Transfusion - related Anaphylaxis?
Anaphylaxis with transfusion of blood that contains IgA antibodies due to those with IgA deficiency not having seen them before
What can prevent Transfusion - related Anaphylaxis?
Red cell washing
