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MOD I Exam II > Chapter 6 Diseases > Flashcards

Chapter 6 Diseases Flashcards

1
Q

X-linked agammaglobinuria

A

Btk on Xq21.22

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2
Q

3 characteristics of X-linked agammaglobinuria

A
  1. Precursor B cells (pro and pre CD19) cannot mature into mature B cells => DECREASED LEVEL OF ALLL Ig in BLOOD
    - Bcells normally not in blood so w//e
  2. T-cell responses are normal and can handle most infect
  3. Germinal centers are underdeveloped
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3
Q

X-linked agammaglobinuria: when do sx start to show up?

A

around 6mths after moms Ab go away. after that; person is more susceptible to infections

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4
Q

Bacterial infections in X-linked agammaglobinuria

A

Respiratory tract caused by

Haemph. influenza
Staph. aeu
Step. pneumo

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5
Q

Viral infection in X-linked agammaglobinuria

A

blood viral infections

enteroviruses

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6
Q

Protozoal infections in X-linked agammaglobinuria

A

Giardia lambia => usually neutralized by IgA ===> CHRONIC DIARHHEA

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7
Q

Giardia lambia causes what

A

CHRONIC DIARRHEA

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8
Q

ppl with X-linked agammaglobinuria are more likely to develop what?

what are the tx?

A

AID: arthritis and dermatomyositis

replacement IG therapy

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9
Q

DiGeorge syndrome mutation

A

22q11

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10
Q

DiGeorge Syndrome is due to what?

Deficiency in what?

What chromosome abnormality?

A

failure of 3rd and 4th pharyngeal pouch form

T-cells

22q11 (TBX gene)

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11
Q

Sx of DiGeorge Syndrome?

A

CATCH 22

  1. Thymus hypoplasia => no T-cells => lack of protection against viruses and fungi
  2. Paraythyroid hypoplasia => decrease PTH => decrease in Ca2+ => tetany
  3. Abnormal fascies and facial abnormalaties (cleft lip)
  4. Problems with <3 and great vessels
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12
Q

What kind of inheritance with Hyper-IgM syndrome?

What is the defect in each of these inheritance patterns?

A

X-linked or AR

Xlinked on Chr Xq26 is 70%: gene encoding CD40L on T cell

AR: LOF of CD40 on B cells or AID (impo inclass switching)

=> HIGH levels if IgM, but low of everything else

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13
Q

Patients with Hyper-IgM syndrome present with what type of recurrent infections?

Due to?

Those with the CD40L mutations also susceptible to?

A
  • Recurrent pyrogenic infections
  • Due to low level of opsonizing IgG
  • CD40L mutations also susceptible to pneumonia caused by Pneumocystis jiroveci
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14
Q

How can we treat hyper-IgM syndrome

A
  1. IVIg

2. Require stem cell transplantation

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15
Q

Common Variable Imunnodeficiency (CVI) in contrast to X-linked agammaglobulinemia is characterized by what?

A
  1. Normal levels of B-cells, however they cannot differentiate into plasma cells
  2. Affect M=F equally
  3. Onset is later; in achildhood and adolesces
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16
Q

What is a common disorder seen in about 1/600 white people?

A

Isolated IgA deficiency

17
Q

what is Isolated IgA deficiency

A

decrease serum and secretory IgA levels (occ IgG2/4) bc IgA+ Bcells cannot mature. thus, we have normal numbers of IMMATURE

18
Q

Isolated IgA deficiency is common in whom?

Susceptible to what problems?

A

1/600 white poeple

IgA=> protects mucosal barriers => mucosal barriers in GI, resp and urogenital tract weakened => recurrent sinopulmonary infections and diarrhea

Most ppl are asymptomantic though

19
Q

What problem can occur if someone needs a blood transfusion and is asymptomatic with Isolated IgA deficiency?

A
  • If transfused with blood containing normal IgA, some pt’s can develop severe, even fatal, anaphylactic rxns
  • The IgA behaves like a foreign antigen (since the pt’s do not produce or tolerate it)
20
Q

X-linked lymphoproliferative syndrome

A

cannot get rid of EBV => mononucleosis => B cell tumors

21
Q

mutation in X-linked lymphoproliferative syndrome

A
  • SLAM-associated protein (SAP
22
Q

Wiskott Aldrich Syndrome mutation

A

WASP protein on X Chro

23
Q

3 Features of Wiskott Aldrich Syndrome

A
  1. Thrombocytopenia
  2. Eczema
  3. Recurrent infections
24
Q

What levels of Ig do we see in Wiskott Aldrich Syndrome

A
  1. High IgA/E
  2. Normal IgG
  3. Low IgM
25
Q

How can we treat Wiskott Aldrich syndrome?

What cancer are they prone to getting?

A

Only HSC transplant

prone to non-hodgkin B-cell lymphoma

26
Q

Ataxia Telangiectasia mutation

A

ATM mutation on Chr 11=>

impairs DNA repair because we cannot activate p53

27
Q

What is the inheritance pattern of Ataxia Telangiectasia?

Characterized by?

A

AR

Ch: Neuro ploblems (ataxia) => vascular malformation (telangiectasia towards the iris) => immunodeficiency and increased incidence of tumors

28
Q

Ataxia Telangiectasia causes immunodeficiency that may affect T and B cells. What def do we see

A

IgA and IgG2 deficiency

MOD I Exam II (16 decks)

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