Immunodeficiencies Flashcards
Frequent, longer-lasting/severe infxns and increased risk of opportunistic pathogens describe:
autoimmune deficiencies
Deficiency in humoral immunity would result in increased infxns from ____
encapsulated and pyogenic bacteria
Deficiency in CMI would result in:
increased infxns from IC pathogens, reactivation of latent infxns
congenital (primary) immunodeficiency presents at:
present at birth and present early
Acquired (secondary) is a deficiency as a consequence of?
of other co-morbidities
Primary immunodeficiencies are categorized by problems w/:
- B cell
- T cell
- B and T cell (SCID)
- phagocytic
- complement
___ occurs in myeloid defects and is associated w/ recurrent bacterial infxns due to impaired leukocyte trafficking
Phagocytic immunodeficiency
What affect Tc cells and NK cells and is due to a genetic defect related to perforin-granzyme?
Hemophagocytic Lymphohistiocytosis
T cells (cellular PI) physiology?
IC pathogens–> NK cels and Tc cells secrete IFN-g–> cytokines activate macrophages–> inability to kill pathogen–> excessive macrophage activation
Clinical sx of Hemophagocytic Lymphohistiocytosis:
- increased frequency of infxn by IC pathogens
- excessive inflammation
- phagocytosis of RBC–> anemia
Disease due to genetic defect in BTK gene so no maturation of B cells–> no abs?
X-linked infantile agammaglobulinemia/ Bruton’s
Clinical features of X-linked infantile agammaglobulinemia/ Bruton’s:
- noticeable around 6 moa
- recurrent infxns
- early periodontal disease
- smaller secondary lymphoid organs
Tx for X-linked infantile agammaglobulinemia/ Bruton’s:
- IVIG
- Bone marrow transplant
Defect in AID enzyme which leads to no isotype switching is what disease?
Activation-induced (cytidine) Deaminase (AID) Hyper-IgM syndrome
Defect in ability of B cells to mature into ab producing plasma cells and results in increased risk of pyogenic infxns and presents in teen years?
Common Variable Immunodeficiency
Most common PI characterized by reduced IgA due to inability of B cells to differentiate into ab-secreting plasma cells or inability to secrete IgA?
Selective IgA Deficiency
Clinical presentations of Selective IgA deficiency? tx?
- increased mucosal infxns; tx w/ antibiotics
Deletion of gene on chromosome 22 that causes thymus to not develop?
DiGeorge Syndrome
Clinical features of DiGeorge’s?
- “fish mouth”
- congenital heart defects
- only IgM
Gene defect that involves lymphocyte toxicity which inhibits DNA synthesis and is due to a defect in the enzyme that normally breaks down purines?
Adenosine Deaminase def.
Tx for ADD?
HSC transplant
X-linked hyper IgM syndrome is due to a mutation of..?
mutation of CD40L of T cells–> necessary for isotype switching
Mutation of X chromosome that affects WASP gene which leads to reduced CMI and humoral responses?
Wiskott-aldrich syndrome
Clinical features of WAS?
- recurrent bacterial and viral infxns
- thrombocytopenia
- eczema
mutation in TAP gene–> lack of mature CD8+ T cells which lead to recurrent respiratory bacterial infxns and most pts live till adulthood?
Class I Bare lymphocyte syndrome
Mutation in transcription machinery–> lack of mature CD4+ T cells and presents w/ frequent GI infxns and fatal by adolescent age?
Class II Bare lymphocyte syndrome
disease due to mutation in enzyme involved in oxidative burst and can be tx w/ IFN-g?
Chronic granulomatous disease
syndrome due to defect in LYST protein which results in impaired phagolysosome fusion?
chediak-higashi syndrome
defect in CD18 gene and results in no pus formation and delayed umbilical cord separation?
LAD-1
defect in sialyl-lewis X?
LAD-2
defect in pathway that increases adhesin expression on leukocytes and leads to bleeding disorder?
LAD-3
