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--Step Shit-- > Inherited Immunodeficiencies > Flashcards

Inherited Immunodeficiencies Flashcards

1
Q

X-linked (Brutons) agammaglobulinemia

Defect

A

B Cell Disorder

Defect in BTK an adenosine kinase gene - leading to failure of bone marrow pre-B cells to mature

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2
Q

X-linked (Brutons) agammaglobulinemia

Presentation

A

Lab: Absent B cells, Dec Ig of all classes
Clinical: absent/scanty lymph nodes and tonsils, recurrent bacterial (encapsulated) enteroviral (polio and coxsackie) and giardia infections (AFTER 6 months)

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3
Q

Selective IgA deficiency

Defect

A

B Cell Disorder

Unknown but is most common primary immunodeficiency

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4
Q

Selective IgA deficiency

Presentation

A

Lab: Dec IgA w/ normal IgG,IgM levels
Clinical: Inc susceptibility to giardiasis and anaphylaxis to IgA containing products, most asymptomatic; but can see inc gi infections, autoimmune, atopy, and some association with celiacs

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5
Q

CVID

Defect

A

B Cell Disorder

Defect in B-cell DIFERENTIATION (not maturation like brutons)

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6
Q

CVID

Presentation

A

Lab: Dec plasma cells, Dec immunoglobulins
Clinical: usually presents after 2 or later; inc risk of autoimmune disease, lymphoma, bronchiectasis, and sinopulmonary infections (inc risk for bacterial, enterovirus and giardia again)

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7
Q 
Thymic Aplasia (DiGeorge Syndrome)
(Defect)
A

T cell Disorder

22q11 deletion; failure to develop 3rd and 4th pharyngeal pouches –> absent thymus and parathyroids

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8
Q 
Thymic Aplasia (DiGeorge Syndrome)
(Presentation)
A

Lab: Dec T cells; Possibly Dec PTH and Dec Ca
Clinical: Recurrent VIRAL and FUNGAL infections (also Protozoan and INTRAcellular bacteria); conotruncal abnormalities (tetrology, and tuncus arteriosus), Hypocalcemia if Parathyroids absent

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9
Q

IL-12 Receptor Deficiency

Defect

A

T cell disorder

Dec Th1 Response Autosomal recessive

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10
Q

IL-12 Receptor Deficiency

Presentation

A

Lab: Dec IFN-Y
Clincial: disseminated MYCOBACTERIAL and FUNGAL infections, may present after administration of BCG vaccine

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11
Q 
Job syndrome (hyper IgE syndrome)
(Defect)
A

T Cell disorder
Deficiency of Th17 Cells due to STAT 3 mutation
Impaired recruitment of neutrophils to infection sites

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12
Q 
Job syndrome (hyper IgE syndrome)
(Presentation)
A

Lab: Inc IgE, Dec IFN-y, Inc Eosinophils
Clinical: FATED; course Facies, cold (noninflamed) staph Abscesses, retained primary Teeth, Inc IgE, Dermatologic problems (eczema). Also bone fractures from relatively minor trauma

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13
Q

Chronic Mucocutaneous Candidiasis

Defect

A

T Cell Disorder

Many causes

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14
Q

Chronic Mucocutaneous Candidiasis

Presentation

A

Labs: Absent in vitro T cell proliferation in response to candida antigens; absent cutaneous reaction to candida antigens
Clinical: non invasive candida infections of skin and mucosal membranes

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15
Q

SCID

Defect

A

B and T Cell Disorders
MC- Defective IL-2R gamma chain; x linked
Adenosine deaminase deficiency (autosomal recessive)
MHC class II defect (autosomal recessive)

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16
Q

SCID

Presentation

A

Lab: Dec T cell receptor excision circles; absence of thymic shadow, germinal centers and t cells (-on flow cytometry)
Clinical: failure to thrive, chronic diarrhea, thrush, recurrent viral, bacterial, fungal, and protozoal infections. need to avoid live vacciens and give prophy and ivig; bone marrow transplant is curative (no rejection concern)

17
Q

Ataxia Telangiectasia

Defect

A

B and T Cell Disorders

Defect in ATM gene; failure to repair DNA double strand breaks leading to cell cycle arrest

18
Q

Ataxia Telangiectasia

Presentation

A

Lab: Inc AFP, Dec IgA,G,E, lymphopenia, cerebellar atrophy,
Clinical: inc risk of lymphoma and leukemia; TRIAD Cerebellar defects (Ataxia), spider Angiomas, igA deficiency (sinopulmonary infections)

19
Q

Hyper IgM Syndrome

Defect

A 
B and T Cell Disorders
Most commonly due to defective CD40L on Th cells-> class switching defect X linked recessive (could also be a cd40 deficiency on B cells which is rare and auto rec)
20
Q

Hyper IgM Syndrome

Presentation

A

Lab: normal or Inc IgM, Very Dec IgG,A,E, Failure to make germinal centers
Clinical; severe pyogenic infections early in life; oportunistic infection with PNeumocystis, crypto, and CMV

21
Q

Wiskott Aldrich Syndrome

Defect

A

B and T Cell Disorders
Mutation in WASp Gene; leukocytes and platelets unable to reorganize actin cytoskeleton causing defective antigen presentation
x linked recessive

22
Q

Wiskott Aldrich Syndrome

Presentation

A

Lab: Dec to normal IgG, IgM, Inc IgE, IgA, fewer and smaller platelets
Clinical: WATER (Wiskott-Aldrich) Thrombocytopenia, Exczema, Recurrent pyogenic infections (encapsul), bleeding is a common cause of death, inc risk of autoimmune disease and malignancy

23
Q

Leukocyte adhesion deficiency (type 1)

Defect

A

Phagocyte Dysfunction
Defect in LFA-1 integrin (CD-18) on phagocytes impaired migration and chemotaxis
Autosomal recessive

24
Q

Leukocyte adhesion deficiency (type 1)

Presentation

A

Lab: inc neutrophils, absence of neutrophils at INFECTION SITES
Clinical: Recurrent skin and mucosal bacterial infections, absent pus, impaired wound healing (>30 days), separation of umbilical cord

25
Q

Chediak-Higashi Syndrome

Defect

A

Phagocyte Dysfunction
Defect in lysosomal trafficking regulator gene LYST
microtubule dysfunction in phagosome lysosome fusion
autosomal recessive

26
Q

Chediak-Higashi Syndrome

Presentation

A

Lab: giant granules in platelets and granulocytes, pancytopenia, mild coagulation defects (due to abnormal granules in platelets)
Clinical: Recurrent pyogenic infections by staph and strep, partial albinism, periph neuropathy (failure to transport nutrients), progressive neurodegeneration, infiltrative lymphohistiocytosis

27
Q

Chronic Granulomatous Disease

Defect

A

Phagocyte Dysfunction
Defect of NADPH oxidase (dec reactive oxygen species and dec resp burst in neutrophils)
x linked recessive

28
Q

Chronic Granulomatous Disease

Presentation

A

Lab: abnormal dihydrorhodamine test (dec green fluorescence), Fails to turn blue on nitroblue tetrazolium dye test
Clinical: inc susceptibility to catalase + organisms

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