Immunodeficiency Disorders Flashcards
Leukocyte Adhesion Deficiency I Leukocyte Adhesion Deficiency II Chediak-Higashi Syndrome Chronic Granulomatous Disease Myeloperoxidase Deficiency
These are all immunodeficiency disorders that impede ___ immunity.
A. innate
B. adaptive
C. Both
A
In Leukocyte Adhesion Deficiency I, what is the defect?
Defective leukocyte adhesion because of mutations in CD 11/CD 18 (Integrins)
In Leukocyte Adhesion Deficiency II, what is the defect?
Mutations in Fucosyl transferase
What does the defect in LAD II lead to?
nonfunctional Sialylated Oligosaccharide
Chediak-Higashi syndrome involves mutations in LYST. What is LYST?
protein involved in lysosomal membrane traffic
In Chronic Granulomatous Disease, what is the defect?
Defective NADPH oxidase
What does the defect in Chronic Granulomatous Disease lead to?
decreased oxidative burst
In myeloperoxidase deficiency, what exactly is wrong?
Defective MPO-H202 system
False about Chediak-Higashi syndrome
a. Autosomal dominant condition
b. LYST (Lysosomal Trafficking)
c. Defective fusion of phago-lysosome complex
d. Defective degranulation and delayed microbial killing
A
autosomal recessive dapat
Which is not a feature of Chediak-Higashi syndrome? A.Leukocytes contain giant granules B.Defective melanocytes (albinism) C.Nerve defects and bleeding disorders D.Cleft palate
D
False about Chronic Granulomatous Disease
A. autosomal recessive
B. Defect in Phagocyte NADPH Oxidase
C. Macrophage rich inflammatory response due to defective initial neutrophil response.
D. Nitroblue Tetrazolium Test Negative
A
X-linked recessive dapat
One with chronic granulomatous disease is more susceptible to catalase __ organisms
positive
Myeloperoxidase causes formation of __ from __
Myeloperoxidase causes formation of Hypochlorous acid from Hydrogen peroxide
True or false: In myeloperoxidase deficiency, most patients are asymptomatic.
true
Deficiency in __ and __ (complement system proteins) leads to defective classical pathway activation, results in reduced resistance to infection and reduced clearance of immune complexes
C2 and C4
Deficiency in this complement system protein leads to Defects in all complement functions
C3
When there is excessive complement activation, clinical syndromes like angioedema & paroxysmal hemoglobinuria may occur. What proteins may be defective in situations like these?
complement regulatory proteins
Deficiencies in C1 q, r, s, C4 and C2 may lead to increased disposition for ___
immune complex diseases, like SLE
MBL Deficiencies are associated with an increased risk of infection for \_\_ A. Saccharomyces cervisiae B. encapsulated bacteria C. Both A and B D. none of those mentioned
C
In alternative pathway deficiency, any of the ff may be deficient except A. C3 B. C2 C. Factor B and D D. Properdin
B
Alternative pathway deficiency may lead to __
A. decreased opsonization of bacteria
B. subsequent risk for infection, esp with encapsulated bacteria
C. both of the above
D. none of those mentioned
C
Which 4 immune system activities will become deficient, at the onset of C3 deficiency?
leukocyte chemotaxis
opsonization
resistance to infection c/o encapsulated bacteria
bactericidal activity
MAC deficiency leads to increased susceptibility to infection caused by what Neisseria species?
N. meningitidis
identify
- Genetically distinct: X- linked or Autosomal recessive
- Death within first year of life due to recurrent severe infections
severe combined immunodeficiency
False about secondary immunodeficiency syndromes
A. less common than disorders of primary genetic origin
B. Arise as complications of cancers, infections, malnutrition
C. side effects of immunosuppression, irradiation, or chemotherapy for cancer and other diseases
D. All are false
A
More common dapat
Wiskott-Aldrich Syndrome patients are diagnosed to have problems with the WASP protein. What does this protein do?
link membrane receptors (e.g. antigen receptors) to cytoskeletal elements
Which is not a manifestation of Wiskott-Aldrich Syndrome?
A.Purpura due to thrombocytopenia B.Eczema
C.Pneumonia and other infections
D.B cell lymphoma and other cancers
A
Petechiae dapat
In what chromosome is the gene defect for Ataxia-Telangiectasia found?
Chromosome 11
Two main problems in Ataxia-Telangiectasia
Abnormal gait
Vascular malformation
Ataxia telangiectasia protein kinase activates ___, a tumor suppressor gene altered in most cancers
p53
False about tumors A. Accum of mutated/dysfunc cells B. With constriction of small vessels and capillaries C. May lead to flat red marks D. No well brain devt
B
Dilation, not constriction
False about secondary immunodeficiency syndromes
A. less common than disorders of primary genetic origin
B. Arise as complications of cancers, infections, malnutrition
C. side effects of immunosuppression, irradiation, or chemotherapy for cancer and other diseases
D. All are false
A
More common dapat
Wiskott-Aldrich Syndrome patients are diagnosed to have problems with the WASP protein. What does this protein do?
link membrane receptors (e.g. antigen receptors) to cytoskeletal elements
Which is not a manifestation of Wiskott-Aldrich Syndrome?
A.Purpura due to thrombocytopenia B.Eczema
C.Pneumonia and other infections
D.B cell lymphoma and other cancers
A
Petechiae dapat
In what chromosome is the gene defect for Ataxia-Telangiectasia found?
Chromosome 11
Two main problems in Ataxia-Telangiectasia
Abnormal gait
Vascular malformation
Ataxia telangiectasia protein kinase activates ___, a tumor suppressor gene altered in most cancers
p53
False about tumors A. Accum of mutated/dysfunc cells B. With constriction of small vessels and capillaries C. May lead to flat red marks D. No well brain devt
B
Dilation, not constriction
