Term
| Paroxysmal nocturnal hemoglobinuria (PNH) is due to a defect in ? |
|
Definition
DAF (decay accelerating factor)
GPI linkages / glycosylphosphatidylinositol linkages are not synthesized
RBCs lysed by complement |
|
|
Term
| SCID is due to deficiencies in what things? |
|
Definition
ADA (adenosine deaminase) deficiency
JAK 3 deficiency |
|
|
Term
|
Definition
PEG-ADA (polyethylene glycol)
Gene therapy |
|
|
Term
| X-SCID disorded is due to what defect ? |
|
Definition
|
|
Term
| Treatment for DiGeorge's Syndrome ? |
|
Definition
|
|
Term
| Chronic mucocutaneous candidiasis is due to what defect ? |
|
Definition
| "Hole in the repertoire" to Candida albicans or individuals lack T cells with receptors |
|
|
Term
| Chediak Higashi disorder is due to what ? |
|
Definition
| LYST gene mutation (LYST = lysosomal trafficking regulator) |
|
|
Term
| Short and long term treatments for Chediak Higashi disorder ? |
|
Definition
Short term: Anti-fungal and anti-bacterial agents
Long term: Bone marrow transplant |
|
|
Term
| Chronic Granulomatous disease is due to what ? |
|
Definition
|
|
Term
| Short and long term treatments for Chronic Granulomatous Disease ? |
|
Definition
Short term: Anti-fungal and anti-bacterial agents
Long term: Bone marrow transplant
IFNgamma is used as trt |
|
|
Term
| What are the two disorder involving phagocytes ? |
|
Definition
| Chediak Higashi and Chronic Granulomatous Disease |
|
|
Term
| What is the defect in X-Linked Agammaglobulinemia / Bruton's Agammaglobulinemia / Hypogammaglobulinemia ? |
|
Definition
BTK enzyme deficiency
ProB to Pre-B transition defect
All Abs deficient
Recurrent bacterial infection
Intact cellular immunity |
|
|
Term
| Defect in Transient Hypogammaglobulinemia ? |
|
Definition
Lack of Th cells
Ab deficiencies of IgG, IgA, IgE
Normal # of B cells in blood
Most get better with antibiotics but in severe cases Ig (immune globulin) is given |
|
|
Term
| Defect in Common Variable hypogammaglobuliinemia ? |
|
Definition
Immature B cells or lack of antigen induced differentiation
Deficiencies in all Abs
Normal B cells
Affects males and females equally
Trt is injection of immune globulin |
|
|
Term
| Which two B cell / Ab disorders cause Ab deficiencies of only IgG, IgA, IgE ? |
|
Definition
Transient Hypogammaglobulinemia
and
Hyper IgM Syndrome |
|
|
Term
| What is the defect in Selective IgA deficiency ? |
|
Definition
Unknown
IgA Ab is deficient
Do not give Abs as trt
Only antibiotics as trt |
|
|
Term
| Defect in Hyper IgM Syndrome ? |
|
Definition
Isotype switching defect
CD40 / CD40L interaction is lacking
Ab deficiencies in IgG, IgA, IgE
X-linked disorder |
|
|
Term
| Chronic Nephritis / recurrent bacterial infections is due to what ? |
|
Definition
Lack of C3
Classical and alternate complement pathways not activated
Trt is antibiotics |
|
|
Term
| Chronic nephritis can be treated how ? |
|
Definition
|
|
Term
| Recurrent Neisserial infections is due to what defect ? |
|
Definition
Lack of C5, C6, C7, C8
No effective MAC
Trt with antibiotics |
|
|
Term
| Hereditary Angioedema is due to what defect ? |
|
Definition
Lack of C1 esterase inhibitor
Trt with infusion of C1 esterase inhibitor |
|
|
Term
| Leukocyte adhesion deficiency is due to what defect ? |
|
Definition
|
|
Term
| Primary immunodeficiency disorders may arise from defects in ? |
|
Definition
| Most due to defects in B cells, but also can be due to defects in progenitor cells, phagocytes, T cells, or complement |
|
|
Term
| Trt for Reticular Dysgenesis ? |
|
Definition
| Bone marrow transplantation |
|
|
Term
| Defect in what causes Reticular Dysgenesis ? |
|
Definition
No pluripotent stem cells
Deficient in all lymphoid and myeloid cells and are anemic |
|
|
Term
| Deficiency of both T cells and B cells and a defect in lymphoid progenitor cells is due to what ? |
|
Definition
| SCID (Severe Combined Immunodeficiency) |
|
|
Term
| Absence of JAK-3 or CD132 (IL2RG gene) leads to what ? |
|
Definition
|
|
Term
|
Definition
| IL-2RG (Interleukin 2 receptor subunit gamma) |
|
|
Term
| Another name for IL-2RG cytokine receptor ? |
|
Definition
|
|
Term
| IL-2RG cytokine receptor can associate with what interleukins ? |
|
Definition
247 91521
IL-2
IL-4
IL-7
IL-9
IL-15
IL-21 |
|
|
Term
| Transcription factors of STAT protein family are activated by what ? |
|
Definition
|
|
Term
|
Definition
| JAK (Janus kinase) is a family of intracellular, nonreceptor tyrosine kinases that transduce cytokine-mediated signals via the JAK-STAT pathway |
|
|
Term
| Mice that do not respond to JAK1 have defective response to what cytokine ? |
|
Definition
|
|
Term
| JAK Inhibitors are used for trt of what diseases ? |
|
Definition
| Psoriasis, rheumatoid arthritis, myeloid malignancies, AML, polycythemia vera, etc... |
|
|
Term
| Short form of Janus Kinases ? |
|
Definition
|
|
Term
| T-cell disorders are susceptible to infection by what organisms ? |
|
Definition
| Infection by viruses, intracellular bacteria, and fungi |
|
|
Term
| Two T-cell disorders are ? |
|
Definition
| Di George's Syndrome (Congenital Thymic Aplasia) and Chronic Mucocutaneous Candidiasis |
|
|
Term
| Trt for DiGeorge's Syndrome (Congenital Thymic Aplasia) ? |
|
Definition
Transplantation of functional components of a fetal thymus.
But indiv. improve with age due to maturation of an extrathymic maturation site |
|
|
Term
| People with Chronic Mucocutaneous Candidiasis have increased susceptibility to what infection ? |
|
Definition
| Increased susceptibility to only Candida (yeast) |
|
|
Term
| Btk is what type of protein ? |
|
Definition
|
|
Term
| When does X-linked agammaglobulinemia become apparent ? |
|
Definition
| At 6 months of age when most of the maternally derived Abs are degraded |
|
|
Term
| How is common variable hypogammaglobulinemia different from XLA ? |
|
Definition
| In CVH, individuals have normal numbers of peripheral B cells |
|
|
Term
| In CVH (common variable hypogammaglobulinemia), there is a development block at ? |
|
Definition
| Immature B cell stage or defective antigen-induced differentiation in B cells |
|
|
Term
| CVH (common variable hypogammaglobulinemia) is treated by ? |
|
Definition
| Injection of immune globulin |
|
|
Term
| Increased incidence of recurrent sinopulmonary infection is seen in what B cell disorder ? |
|
Definition
|
|
Term
| Defective CD40 (B cell) / CD40L (T cell) disorder leads to what B cell disorder? |
|
Definition
Hyper IgM Syndrome or (Ig deficiency with increased IgM)
Isotype Switching does not occur |
|
|
Term
| Defective viral and intracellular bacterial immunity is seen in what immunodeficiency ? |
|
Definition
| Chediak Higashi Syndrom (a phagocytic disorder) |
|
|
Term
| What cell function is impaired in Chediak Higashi Syndrome ? |
|
Definition
|
|
Term
| Recurrent and uncontrolled bacterial and fungi infections are seen in what immunodeficiency ? |
|
Definition
Chronic granulomatous disease (CGD)
B/C ROIs are not formed due to dysfunction of NADPH Oxidase enzyme |
|
|
Term
| Trt for Leukocyte Adhesion Deficiency (LAD) disorder ? |
|
Definition
|
|
Term
| Trt for deficiency of C1 esterase inhibitor protein ? |
|
Definition
| Infusion of C1 esterase inhibitor |
|
|
Term
| Hereditary Angioedema is due to what deficiency? |
|
Definition
| Deficiency of C1 esterase inhibitor protein |
|
|
Term
| Enhanced production of C2b and and C4a is due to what complement immunodeficiency? |
|
Definition
| Deficiency of C1 esterase inhibitor protein |
|
|
Term
| C3 nephritic factor does what ? |
|
Definition
| It is an AB that binds C3 and stabilizes the alternative pathway C3 convertase |
|
|
Term
| Increased susceptibility to all bacterial infections is due to deficiency in what complement factor ? |
|
Definition
|
|
Term
| Normal role of complement-mediated defense is what ? |
|
Definition
C3 opsonin mediated phagocytosis
Not lysis |
|
|
Term
| Increased susceptibility to "only" Neisseria bacteria infections is due to what ? |
|
Definition
|
|
Term
| Deficiencies in DAF in RBCs leads to what complement disorder ? |
|
Definition
| PNH (Paroxysmal nocturnal Hemoglobinuria) |
|
|
Term
| Function of C3 nephritic factor ? |
|
Definition
| An autoantibody that increases half life of alternative pathway C3 convertase (C3bBb) |
|
|
Term
| Cytokine receptor defects for differentiation of Th0 cells to Th1 has consequences similar to what ? |
|
Definition
|
|
Term
| Diff. b/w primary and secondary immunodeficiency ? |
|
Definition
Primary or congenital is due to genetic defects
Secondary or acquired is due to external factors like immunosuppressive agents like aging, meds, chemotherapy |
|
|
Term
| AIDS is what type of immunodeficiency ? |
|
Definition
| Secondary or acquired immunodeficiency |
|
|
Term
| Defects in IFNgamma receptor (IFNGR) and IL-12 receptor mutations cause what type of diseases ? |
|
Definition
| "Mycobacterial infections like Tb and salmonella bacteria" , autoimmune disease, and tumor development |
|
|
Term
| Defects in IFNgamma receptor (IFNGR) cause what diseases ? |
|
Definition
Mycobacterial infections like Tb and salmonella bacteria
Due to gene defect found on granulocytes |
|
|
Term
| Trts for IFNgamma receptor (IFNGR) deficiency ? |
|
Definition
Give IL-12, IFNgamma, or GM-CSF
Antibiotics and sometimes bone marrow transp. |
|
|
Term
|
Definition
| Intravenous immunoglobulin |
|
|
Term
|
Definition
CVH or Common Variable Hypogammaglobulinemia
XLA |
|
|
Term
| IL-12 receptor deficiency causes what diseases ? |
|
Definition
| Mycobacteria diseases (Tb and Leprosy ? ) and Salmonella |
|
|
