Immuno 14 Flashcards
What is Aspenia?
Have elevated susceptibility to encapsulated bacterial pathogens (S. pneum and the flu).
What is chronic granulomatous disease?
phagocytes cannot produce ROSs, resulting in impaired ability to kill bacteria.
What is myeloperoxidase deficiency?
macrophages unable to efficiently kill phagocytosed microbes because they have low ability to produce hypochlorous acid and have defective oxidative burst.
What is Chediak-Higashi syndrome?
impaired ability to form phagolysosome
What are characteristics of neutropenias?
Low numbers of granulocytes, usually defined as neutrophil count less than 500 cells/uL
What are the three common neutropenias?
Severe Congential Neutropenia
Cyclic Neutropenia
Benign Chronic Neutropenia
What is XLA?
X-linked Agammaglobulinemia, characterized by absence of Igs in serum
How can you treat Immunodeficiencies?
bone marrow transplantation, cord blood can be used as transplant source, beware of GVHD, gene therapy
What are people with TLR deficiencies more susceptible to?
Gram-Negative bacterial infections
What is NEMO?
A defect in which PRRs are intact, but transcription of the genes that should be expressed following recognition is deficient, like cytokines
What is a typically treatment for innate recognition deficiencies?
Bi weekly injections of gamma globulin from healthy donor. Bone marrow transplant
What protein deficit is the important factor of XLA?
A lack of Bruton’s Tyrosine Kinase, which is in B cells and neutrophils and is responsible for signal transduction from cell-surface receptors during B cell develop.
What is AID deficiency?
Lacking the enzyme required for isotype switching, resulting in increased levels of Igm but low levels of other Abs.
What deficiency can have the same end result as AID deficiency but through T cells?
A defect in CD40 ligand on T CElls. The CD40L cannot interact with CD40 on B cells. Therefore, the Th1 cells cannot deliver second activation signal to B cells.
What does TAP deficiency cause?
Very low levels of MHC 1 and defective responses to intracellular pathogens due to CD8 T cell deficiency
What is SCID?
It is the deficiency in working T Cells, both CD4 AND CD8
What are Adenosine Deaminase and Purine Nucleotide Phosphorylase deficiency?
Two deficiencies that lead to SCID phenotypes
What is bare lymphocyte syndrome?
The complete lack of MHC II mculs, preventing positive selection of CD4 cells in the thymus
What is common gamma chain deficiency?
The common gamma chain is responsible for signalling in various cytokine receptors, interacting with Jaks to signal. People without it cannot initiate signaling of any cytokine receptor, leading to SCID
What is omen syndrome?
Paritally active RAG, resulting in lack of B cells and low concentration of autoreactive T cells.
What is ZAP 70?
Have no CD8 cells but normal concentration of non-functioning CD4 T cells.
What is IPEX?
Deficiency in FoxP3 in regulatory CD4 cells, with watery diarrhea, dermatitis, and type 1 diabetes.
