Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off
Reading...
Front

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key

image

Play button

image

Play button

image

Progress

1/65

Click to flip

65 Cards in this Set

  • Front
  • Back
  • 3rd side (hint)
Decreased production of B cells.
X-linked recessive defect in a tyrosine kinase gene associated with low levels of all classes of immunoglobulins. Associated with recurrent Bacterial infections after 6 months of age, when levels of maternal IgG antibody decline. Occurs in Boys (X-linked)
Bruton's agammaglobulinemia
X-linked recessive defect in a tyrosine kinase gene associated with low levels of all classes of immunoglobulins
Bruton's agammaglobulinemia
Decreased production of B cells.
X-linked recessive defect in a tyrosine kinase gene associated with low levels of all classes of immunoglobulins. Associated with recurrent Bacterial infections after 6 months of age, when levels of maternal IgG antibody decline. Occurs in Boys (X-linked)
Associated with recurrent Bacterial infections after 6 months of age, when levels of maternal IgG antibody decline.
Bruton's agammaglobulinemia
Decreased production of B cells.
X-linked recessive defect in a tyrosine kinase gene associated with low levels of all classes of immunoglobulins. Associated with recurrent Bacterial infections after 6 months of age, when levels of maternal IgG antibody decline. Occurs in Boys (X-linked)
Bruton's agammaglobulinemia is also known as
X-linked agammaglobulinemia
Decreased production of B cells.
X-linked recessive defect in a tyrosine kinase gene associated with low levels of all classes of immunoglobulins. Associated with recurrent Bacterial infections after 6 months of age, when levels of maternal IgG antibody decline. Occurs in Boys (X-linked)
Bruton's agammaglobulinemia affects which demographics?
Boys (x-linked). Associated with recurrent Bacterial infections after 6 months of age, when levels of maternal IgG antibody decline.

(B for Bruton, B cells, Bacterial infections after 6 months, and Boys)
Decreased production of B cells.
X-linked recessive defect in a tyrosine kinase gene associated with low levels of all classes of immunoglobulins. Associated with recurrent Bacterial infections after 6 months of age, when levels of maternal IgG antibody decline. Occurs in Boys (X-linked)
Bruton's agammaglobulinemia has a defect in which gene?
a tyrosine kinase gene associated with low levels of all classes of immunoglobulins
Decreased production of B cells.
X-linked recessive defect in a tyrosine kinase gene associated with low levels of all classes of immunoglobulins. Associated with recurrent Bacterial infections after 6 months of age, when levels of maternal IgG antibody decline. Occurs in Boys (X-linked)
what goes wrong in Bruton's agammaglobulinemia?
Decreased production of B cells. (B for Bruton, B cells, Bacterial infections after 6 months, and Boys)

X-linked recessive defect in a tyrosine kinase gene associated with low levels of all classes of immunoglobulins
Thymus and parathyroids fail to develop owing to failure of development of the 3rd and 4th pharyngeal pouches. Presents with Tentany owing to hypocalcemia. Recurrent viral and fungal infections due to T-cell deficiency. Congenital defects of heart and great vessels. 22q11 delection.

Decreased production of T cells.
Thymic aplasia / DiGeorge syndrome
Thymus and parathyroids fail to develop owing to failure of development of the 3rd and 4th pharyngeal pouches. Presents with Tentany owing to hypocalcemia. Recurrent viral and fungal infections due to T-cell deficiency. Congenital defects of heart and great vessels. 22q11 delection.

Decreased production of T cells.
What fails to develop in DiGeorge?
3rd and 4th pharyngeal pouches fail to develop -> thymus and parathyroids failing to develop.
Thymus and parathyroids fail to develop owing to failure of development of the 3rd and 4th pharyngeal pouches. Presents with Tentany owing to hypocalcemia. Recurrent viral and fungal infections due to T-cell deficiency. Congenital defects of heart and great vessels. 22q11 delection.

Decreased production of T cells.
What disease -> hypocalcemia
DiGeorge / thymic aplasia
Thymus and parathyroids fail to develop owing to failure of development of the 3rd and 4th pharyngeal pouches. Presents with Tentany owing to hypocalcemia. Recurrent viral and funal infections due to T-cell deficiency. Congenital defects of heart and great vessels. 22q11 delection.

Decreased production of T cells.
What disease -> Congenital defects of heart and great vessels.
DiGeorge / thymic aplasia
Thymus and parathyroids fail to develop owing to failure of development of the 3rd and 4th pharyngeal pouches. Presents with Tentany owing to hypocalcemia. Recurrent viral and funal infections due to T-cell deficiency. Congenital defects of heart and great vessels. 22q11 delection.

Decreased production of T cells.
22q11 delection.
DiGeorge / thymic aplasia
Thymus and parathyroids fail to develop owing to failure of development of the 3rd and 4th pharyngeal pouches. Presents with Tentany owing to hypocalcemia. Recurrent viral and funal infections due to T-cell deficiency. Congenital defects of heart and great vessels. 22q11 delection.

Decreased production of T cells.
types of infections seens in DiGeorge / thymic aplasia?
Recurrent viral and fungal infections due to T-cell deficiency.
Thymus and parathyroids fail to develop owing to failure of development of the 3rd and 4th pharyngeal pouches. Presents with Tentany owing to hypocalcemia. Recurrent viral and funal infections due to T-cell deficiency. Congenital defects of heart and great vessels. 22q11 delection.

Decreased production of T cells.
Defect in early stem-cell differentiation. Presents with recurrent viral, bacterial, fungal and protozoal infections. May have multiple causes (e.g. failure to synthesize MHC II antigents, defective IL-2 receptors, or adenosine deaminase deficiency)

Decreased production of B and T cells
Severe combined Immunodeficiency (SCID)
Defect in early stem-cell differentiation. Presents with recurrent viral, bacterial, fungal and protozoal infections. May have multiple causes (e.g. failure to synthesize MHC II antigens, defective IL-2 receptors, or adenosine deaminase deficiency)

Decreased production of B and T cells
3 causes of SCID
failure to synthesize MHC II antigents,

defective IL-2 receptors,

or adenosine deaminase
deficiency
Defect in early stem-cell differentiation. Presents with recurrent viral, bacterial, fungal and protozoal infections. May have multiple causes (e.g. failure to synthesize MHC II antigents, defective IL-2 receptors, or adenosine deaminase deficiency)

Decreased production of B and T cells
types of infections seen in SCID
Presents with recurrent viral, bacterial, fungal and protozoal infections.

(Basically EVERYTHING)
Defect in early stem-cell differentiation. Presents with recurrent viral, bacterial, fungal and protozoal infections. May have multiple causes (e.g. failure to synthesize MHC II antigents, defective IL-2 receptors, or adenosine deaminase deficiency)

Decreased production of B and T cells
Adenosine deaminase deficiency can lead to what disease?
SCID
Defect in early stem-cell differentiation. Presents with recurrent viral, bacterial, fungal and protozoal infections. May have multiple causes (e.g. failure to synthesize MHC II antigents, defective IL-2 receptors, or adenosine deaminase deficiency)

Decreased production of B and T cells
Defective IL-2 receptors can lead to what disease?
SCID
Defect in early stem-cell differentiation. Presents with recurrent viral, bacterial, fungal and protozoal infections. May have multiple causes (e.g. failure to synthesize MHC II antigents, defective IL-2 receptors, or adenosine deaminase deficiency)

Decreased production of B and T cells
Defective IL-12 recepts can lead to what disease?
IL-12 receptor deficiency

(defective IL-2 receptors lead to SCID)
decreased activation of T-cells
presents with disseminated mycobacterial infections
IL-12 receptor deficiency leads to what types of infections?
disseminated mycobacterial infections
decreased activation of T-cells
presents with disseminated mycobacterial infections
IL-12 receptor deficiency leads to decreased activation of what cells?
T cells
decreased activation of T-cells
presents with disseminated mycobacterial infections
decreased activation of T-cells
presents with disseminated mycobacterial infections
IL-12 receptor deficiency
decreased activation of T-cells
presents with disseminated mycobacterial infections
Defect in CD40 ligand on CD4 T helper cells leads to inability to class switch. Presents early in life with severe pyogenic infections. High levels of IgM; very low levels of IgG, IgA, and IgE.

decreased activation of B-cells
hyper IgM syndrome
Defect in CD40 ligand on CD4 T helper cells leads to inability to class switch. Presents early in life with severe pyogenic infections. High levels of IgM; very low levels of IgG, IgA, and IgE.

decreased activation of B-cells
Defect in CD40 ligand on CD4 T helper cells leads to inability to class switch.
hyper IgM syndrome
Defect in CD40 ligand on CD4 T helper cells leads to inability to class switch. Presents early in life with severe pyogenic infections. High levels of IgM; very low levels of IgG, IgA, and IgE.

decreased activation of B-cells
Presents early in life with severe pyogenic infections.
hyper IgM syndrome
Defect in CD40 ligand on CD4 T helper cells leads to inability to class switch. Presents early in life with severe pyogenic infections. High levels of IgM; very low levels of IgG, IgA, and IgE.

decreased activation of B-cells
High levels of IgM; very low levels of IgG, IgA, and IgE.
hyper IgM syndrome
Defect in CD40 ligand on CD4 T helper cells leads to inability to class switch. Presents early in life with severe pyogenic infections. High levels of IgM; very low levels of IgG, IgA, and IgE.

decreased activation of B-cells
hyper IgM syndrome has a defect in which ligand?
Defect in CD40 ligand on CD4 T helper cells leads to inability to class switch.
Defect in CD40 ligand on CD4 T helper cells leads to inability to class switch. Presents early in life with severe pyogenic infections. High levels of IgM; very low levels of IgG, IgA, and IgE.

decreased activation of B-cells
How does IgM syndrome present?
Presents early in life with severe pyogenic infections.
Defect in CD40 ligand on CD4 T helper cells leads to inability to class switch. Presents early in life with severe pyogenic infections. High levels of IgM; very low levels of IgG, IgA, and IgE.

decreased activation of B-cells
X-linked defect in the ability to mount an IgM response to capsular polysaccharides of bacteria. Associated with elevated IgA levels, normal IgE levels, and low IgM levels.
Triad of symptoms includes recurrent pyogenic Infections, thrombocytopenic Purpura, Eczema (WIPE)

decreased activation of B-cells
Wiskott-Aldrich syndrome
X-linked defect in the ability to mount an IgM response to capsular polysaccharides of bacteria. Associated with elevated IgA levels, normal IgE levels, and low IgM levels.
Triad of symptoms includes recurrent pyogenic Infections, thrombocytopenic Purpura, Eczema (WIPE)

decreased activation of B-cells
Associated with elevated IgA levels, normal IgE levels, and low IgM levels.
Wiskott-Aldrich syndrome
X-linked defect in the ability to mount an IgM response to capsular polysaccharides of bacteria. Associated with elevated IgA levels, normal IgE levels, and low IgM levels.
Triad of symptoms includes recurrent pyogenic Infections, thrombocytopenic Purpura, Eczema (WIPE)

decreased activation of B-cells
Triad of symptoms includes recurrent pyogenic Infections, thrombocytopenic Purpura, Eczema (WIPE)
Wiskott-Aldrich syndrome
X-linked defect in the ability to mount an IgM response to capsular polysaccharides of bacteria. Associated with elevated IgA levels, normal IgE levels, and low IgM levels.
Triad of symptoms includes recurrent pyogenic Infections, thrombocytopenic Purpura, Eczema (WIPE)

decreased activation of B-cells
how does Wiskott-Aldrich syndrome present?
Triad of symptoms includes recurrent pyogenic Infections, thrombocytopenic Purpura, Eczema (WIPE)
X-linked defect in the ability to mount an IgM response to capsular polysaccharides of bacteria. Associated with elevated IgA levels, normal IgE levels, and low IgM levels.
Triad of symptoms includes recurrent pyogenic Infections, thrombocytopenic Purpura, Eczema (WIPE)

decreased activation of B-cells
Antibody levels in Wiskott-Aldrich syndrome?
elevated IgA levels, normal IgE levels, and low IgM levels.
X-linked defect in the ability to mount an IgM response to capsular polysaccharides of bacteria. Associated with elevated IgA levels, normal IgE levels, and low IgM levels.
Triad of symptoms includes recurrent pyogenic Infections, thrombocytopenic Purpura, Eczema (WIPE)

decreased activation of B-cells
Thrombocytopenic purpura might be a sign of which syndrome?
Wiskott-Aldrich syndrome

Triad of symptoms includes recurrent pyogenic Infections, thrombocytopenic Purpura, Eczema (WIPE)
X-linked defect in the ability to mount an IgM response to capsular polysaccharides of bacteria. Associated with elevated IgA levels, normal IgE levels, and low IgM levels.
Triad of symptoms includes recurrent pyogenic Infections, thrombocytopenic Purpura, Eczema (WIPE)

decreased activation of B-cells
Failure of gamma-interferon production by helper T cells. Neutrophils fail to respond to chemotactic stimuli. Presents with recurrent "cold" (noninflamed) staphylococcal abscesses, eczema, coarse facies, retained primary teeth, and high levels of IgE.

decreased activation of macrophages
Job's syndrome
Failure of gamma-interferon production by helper T cells. Neutrophils fail to respond to chemotactic stimuli. Presents with recurrent "cold" (noninflamed) staphylococcal abscesses, eczema, coarse facies, retained primary teeth, and high levels of IgE.

decreased activation of macrophages
etiology of Job's syndrome
Failure of gamma-interferon production by helper T cells. Neutrophils fail to respond to chemotactic stimuli.
Failure of gamma-interferon production by helper T cells. Neutrophils fail to respond to chemotactic stimuli. Presents with recurrent "cold" (noninflamed) staphylococcal abscesses, eczema, coarse facies, retained primary teeth, and high levels of IgE.

decreased activation of macrophages
presentation of Job's syndrome
Presents with recurrent "cold" (noninflamed) staphylococcal abscesses, eczema, coarse facies, retained primary teeth, and high levels of IgE.
Failure of gamma-interferon production by helper T cells. Neutrophils fail to respond to chemotactic stimuli. Presents with recurrent "cold" (noninflamed) staphylococcal abscesses, eczema, coarse facies, retained primary teeth, and high levels of IgE.

decreased activation of macrophages
Eczema is seen in which 2 diseases?
Wiskott-Aldrich syndrome

Job's syndrome
Failure of gamma-interferon production by helper T cells. Neutrophils fail to respond to chemotactic stimuli. Presents with recurrent "cold" (noninflamed) staphylococcal abscesses, eczema, coarse facies, retained primary teeth, and high levels of IgE.

decreased activation of macrophages
Immunoglobulin levels in Jobs synd.
high IgE
Failure of gamma-interferon production by helper T cells. Neutrophils fail to respond to chemotactic stimuli. Presents with recurrent "cold" (noninflamed) staphylococcal abscesses, eczema, coarse facies, retained primary teeth, and high levels of IgE.

decreased activation of macrophages
decreased activation of macrophages is seen in
Jobs syndrome
Failure of gamma-interferon production by helper T cells. Neutrophils fail to respond to chemotactic stimuli. Presents with recurrent "cold" (noninflamed) staphylococcal abscesses, eczema, coarse facies, retained primary teeth, and high levels of IgE.

decreased activation of macrophages
Defect in LFA-1 adhesion proteins on phagocytes. Presents early with severe pyogenic and fungal infections and delayed separation of umbilicus.
Leukocyte adhesion deficiency syndrome
Defect in LFA-1 adhesion proteins on phagocytes. Presents early with severe pyogenic and fungal infections and delayed separation of umbilicus.

etiology of Leukocyte adhesion deficiency syndrome
Defect in LFA-1 adhesion proteins on phagocytes.
Defect in LFA-1 adhesion proteins on phagocytes. Presents early with severe pyogenic and fungal infections and delayed separation of umbilicus.

presentation of Leukocyte adhesion deficiency syndrome
Presents early with severe pyogenic and fungal infections and delayed separation of umbilicus..
Defect in LFA-1 adhesion proteins on phagocytes. Presents early with severe pyogenic and fungal infections and delayed separation of umbilicus.

delayed separation of umbilicus can be a sign of which disease
Leukocyte adhesion deficiency syndrome
Defect in LFA-1 adhesion proteins on phagocytes. Presents early with severe pyogenic and fungal infections and delayed separation of umbilicus.

Autosomal recessive.
Defect in microtubular function and lysosomal emptying of phagocytic cells.
Presents with recurrent pyogenic infections by staphylococci and streptococci, partial albinism, and peripheral neuropathy.
Chediak-Higashi disease
Autosomal recessive.
Defect in microtubular function and lysosomal emptying of phagocytic cells.
Presents with recurrent pyogenic infections by staphylococci and streptococci, partial albinism, and peripheral neuropathy.
Chediak-Higashi disease has what inheritance pattern?
Autosomal recessive.
Autosomal recessive.
Defect in microtubular function and lysosomal emptying of phagocytic cells.
Presents with recurrent pyogenic infections by staphylococci and streptococci, partial albinism, and peripheral neuropathy.
etiology of Chediak-Higashi disease
Defect in microtubular function and lysosomal emptying of phagocytic cells.
Autosomal recessive.
Defect in microtubular function and lysosomal emptying of phagocytic cells.
Presents with recurrent pyogenic infections by staphylococci and streptococci, partial albinism, and peripheral neuropathy.
Defect in microtubular function and lysosomal emptying of phagocytic cells.
Chediak-Higashi disease
Autosomal recessive.
Defect in microtubular function and lysosomal emptying of phagocytic cells.
Presents with recurrent pyogenic infections by staphylococci and streptococci, partial albinism, and peripheral neuropathy.
presentation of Chediak-Higashi disease
Presents with recurrent pyogenic infections by staphylococci and streptococci, partial albinism, and peripheral neuropathy.
Autosomal recessive.
Defect in microtubular function and lysosomal emptying of phagocytic cells.
Presents with recurrent pyogenic infections by staphylococci and streptococci, partial albinism, and peripheral neuropathy.
Presents with recurrent pyogenic infections by staphylococci and streptococci, partial albinism, and peripheral neuropathy.
Chediak-Higashi disease
Autosomal recessive.
Defect in microtubular function and lysosomal emptying of phagocytic cells.
Presents with recurrent pyogenic infections by staphylococci and streptococci, partial albinism, and peripheral neuropathy.
partial albinism can be a sign of which disease?
Chediak-Higashi disease
Autosomal recessive.
Defect in microtubular function and lysosomal emptying of phagocytic cells.
Presents with recurrent pyogenic infections by staphylococci and streptococci, partial albinism, and peripheral neuropathy.
Defect in phagocytosis of neutrophils owing to lack of NADPH oxidase activity or similar enzymes. Presents with marked susceptibility to opportunistic infection with bacteria, especially S. aureus, E. coli, and Aspergillus.
Diagnosis confirmed with negative nitroblue tetrazolium dye reduction test.
Chronic granulomatous disease
Defect in phagocytosis of neutrophils owing to lack of NADPH oxidase activity or similar enzymes. Presents with marked susceptibility to opportunistic infection with bacteria, especially S. aureus, E. coli, and Aspergillus.
Diagnosis confirmed with negative nitroblue tetrazolium dye reduction test.
etiology of Chronic granulomatous disease
Defect in phagocytosis of neutrophils owing to lack of NADPH oxidase activity or similar enzymes.
Defect in phagocytosis of neutrophils owing to lack of NADPH oxidase activity or similar enzymes. Presents with marked susceptibility to opportunistic infection with bacteria, especially S. aureus, E. coli, and Aspergillus.
Diagnosis confirmed with negative nitroblue tetrazolium dye reduction test.
Defect in phagocytosis of neutrophils owing to lack of NADPH oxidase activity or similar enzymes.
Chronic granulomatous disease
Defect in phagocytosis of neutrophils owing to lack of NADPH oxidase activity or similar enzymes. Presents with marked susceptibility to opportunistic infection with bacteria, especially S. aureus, E. coli, and Aspergillus.
Diagnosis confirmed with negative nitroblue tetrazolium dye reduction test.
presentation of Chronic granulomatous disease
Presents with marked susceptibility to opportunistic infection with bacteria, especially S. aureus, E. coli, and Aspergillus.
Defect in phagocytosis of neutrophils owing to lack of NADPH oxidase activity or similar enzymes. Presents with marked susceptibility to opportunistic infection with bacteria, especially S. aureus, E. coli, and Aspergillus.
Diagnosis confirmed with negative nitroblue tetrazolium dye reduction test.
negative nitroblue tetrazolium dye reduction test is used to diagnose which disease?
Chronic granulomatous disease
Defect in phagocytosis of neutrophils owing to lack of NADPH oxidase activity or similar enzymes. Presents with marked susceptibility to opportunistic infection with bacteria, especially S. aureus, E. coli, and Aspergillus.
Diagnosis confirmed with negative nitroblue tetrazolium dye reduction test.
T-cell dysfunction specifically against Candida albicans. Presents with skin and mucous membrane Candida infections.

Idiopathic dysfunction of T cells.
chronic mucocutaneous candidiasis
T-cell dysfunction specifically against Candida albicans. Presents with skin and mucous membrane Candida infections.

Idiopathic dysfunction of T cells.
what type of cells are dysfunctional in chronic mucocutaneous candidiasis?
T cells
T-cell dysfunction specifically against Candida albicans. Presents with skin and mucous membrane Candida infections.

Idiopathic dysfunction of T cells.
Deficiency in a specific class of immunoglobulins--possibly due to a defect in isotype switching. Selective IgA deficiency is the most common selective immunoglobulin deficiency.

Presents with sinus and lung infections; milk allergies and diarrhea are common.

Idiopathic dysfunction of B cells
Selective immunoglobulin deficiency
Deficiency in a specific class of immunoglobulins--possibly due to a defect in isotype switching. Selective IgA deficiency is the most common selective immunoglobulin deficiency.

Presents with sinus and lung infections; milk allergies and diarrhea are common.

Idiopathic dysfunction of B cells
most common selective immunoglobulin deficiency
selective IgA deficiency
Deficiency in a specific class of immunoglobulins--possibly due to a defect in isotype switching. Selective IgA deficiency is the most common selective immunoglobulin deficiency.

Presents with sinus and lung infections; milk allergies and diarrhea are common.

Idiopathic dysfunction of B cells
how does Selective Immunoglobulin Deficiency present?
Presents with sinus and lung infections; milk allergies and diarrhea are common.
Deficiency in a specific class of immunoglobulins--possibly due to a defect in isotype switching. Selective IgA deficiency is the most common selective immunoglobulin deficiency.

Presents with sinus and lung infections; milk allergies and diarrhea are common.

Idiopathic dysfunction of B cells
Presents with sinus and lung infections; milk allergies and diarrhea are common.
Selective immunoglobulin deficiency
Deficiency in a specific class of immunoglobulins--possibly due to a defect in isotype switching. Selective IgA deficiency is the most common selective immunoglobulin deficiency.

Presents with sinus and lung infections; milk allergies and diarrhea are common.

Idiopathic dysfunction of B cells
Defect in DNA repair enzymes with associated IgA deficiency. Presents with cerebellar problems (ataxia) and spider angiomas (telangiectasia)

Idiopathic dysfunction of B cells
Ataxia-telangiectasia
Defect in DNA repair enzymes with associated IgA deficiency. Presents with cerebellar problems (ataxia) and spider angiomas (telangiectasia)

Idiopathic dysfunction of B cells
how does Ataxia-telangiectasia present?
Presents with cerebellar problems (ataxia) and spider angiomas (telangiectasia)
Defect in DNA repair enzymes with associated IgA deficiency. Presents with cerebellar problems (ataxia) and spider angiomas (telangiectasia)

Idiopathic dysfunction of B cells
what immunoglobulin deficiency is present in Ataxia-telangiectasia?
IgA deficiency
Defect in DNA repair enzymes with associated IgA deficiency. Presents with cerebellar problems (ataxia) and spider angiomas (telangiectasia)

Idiopathic dysfunction of B cells