immune deficiencies Flashcards by Jessica Chang

x-linked (bruton’s) agammaglobulinemia: defect

x-linked recessive (boys > girls)

defect in BTK = no B cell maturation

How well did you know this?

Not at all

Perfectly

x-linked (bruton’s) agammaglobulinemia: presentation

recurrent bacterial infections after 6 months (decrease maternal IgG) as a result of opsonization defect

How well did you know this?

Not at all

Perfectly

x-linked (bruton’s) agammaglobulinemia: findings

normal pro-B

maturation
# B cells
Ig’s of all classes

How well did you know this?

Not at all

Perfectly

selective IgA deficiency: defect

unknown - most common 1* immunodeficiency

How well did you know this?

Not at all

Perfectly

selective IgA deficiency: presentation

majority asymptomatic

sinopulmonary infections
GI infections
autoimmune disease
anaphylaxis to IgA-containing blood products

How well did you know this?

Not at all

Perfectly

selective IgA deficiency: findings

IgA < 7 with normal IgG, IgM, and IgG vaccine titers

false-positive B-hCG tests due to heterophile Ab

How well did you know this?

Not at all

Perfectly

common variable immunodeficiency (CVID): defect

defect in B cell maturation; many causes

How well did you know this?

Not at all

Perfectly

common variable immunodeficiency (CVID): presentation

can be acquired in 20-30s

increased risk of autoimmune disease, lymphoma, sinopulmonary infections

How well did you know this?

Not at all

Perfectly

common variable immunodeficiency (CVID): findings

normal # B cells

- plasma cells, Ig’s

How well did you know this?

Not at all

Perfectly

thymic aplasia (DiGeorge syndrome): defect

22q11 deletion

failure to develop 3rd and 4th pharyngeal pouches

How well did you know this?

Not at all

Perfectly

thymic aplasia (DiGeorge syndrome): presentation

tetany (hypocalcemia)
recurrent viral/fungal infections (T cell deficient)
congenital heart and great vessels defects

How well did you know this?

Not at all

Perfectly

thymic aplasia (DiGeorge syndrome): findings

thymus and parathyroids fail to develop => - T cells, - PTH, - Ca

absent thymic shadow on CXR

How well did you know this?

Not at all

Perfectly

IL-12 receptor deficiency: defect

Th1 response

How well did you know this?

Not at all

Perfectly

IL-12 receptor deficiency: presentation

disseminated mycobacterial infections

How well did you know this?

Not at all

Perfectly

IL-12 receptor deficiency: findings

IFN-y

How well did you know this?

Not at all

Perfectly

hyper-IgE syndrome (Job’s syndrome): defect

Th1 cells fail to produce IFN-y = inability of neutrophils to respond to chemotactic stimuli

How well did you know this?

Not at all

Perfectly

hyper-IgE syndrome (Job’s syndrome): presentation

FATED:
coarse facies
cold (noninflamed) staphylococcal abscesses
retained primary teeth
\+ IgE
dermatologic problems (eczema)

How well did you know this?

Not at all

Perfectly

hyper-IgE syndrome (Job’s syndrome): findings

+ IgE

How well did you know this?

Not at all

Perfectly

chronic mucocutaneous candidiasis: defect

T cell dysfunction

chronic mucocutaneous candidiasis: presentation

C. albicans infections of skin and mucous membranes

severe combined immunodeficiency (SCID): defect

several types:
defective IL-2 receptor (MC, X-liked)
adenosine deaminase deficiency

severe combined immunodeficiency (SCID): presentation

failure to thrive
chronic diarrhea
thrust
recurrent infections of all types

severe combined immunodeficiency (SCID): findings

T cell recombinant excision circles (TRECs)
absence of thymic shadow, germinal centers (lymph node biopsy), B cells (peripheral blood smear), and T cells (flow cytometry)

severe combined immunodeficiency (SCID): treatment

bone marrow transplant

ataxia-telangiectasia: defect

defects in the ATM gene, which codes for DNA repair enzymes autosomal recessive

ataxia-telangiectasia: presentation

``` triad of: cerebellar defects (ataxia) spider angiomas (telangiectasia) IgA deficiency ``` increased risk of hematologic malignancies DNA is hypersensitive to X-ray radiation => multiple breaks

ataxia-telangiectasia: findings

+ AFP

hyper-IgM syndrome: defect

MC: defective CD40L on CD4 T cells = inability to class switch

hyper-IgM syndrome: presentation

severe pyogenic infections early in life

hyper-IgM syndrome: findings

+ IgM | - - IgG, IgA, IgE

hyper-IgM syndrome: treatment

IV gamma globulin

wiskott-aldrich syndrome: defect

X-linked defect in WASP gene => T cells unable to reorganize actin cytoskeleton

wiskott-aldrich syndrome: presentation

triad of: (TIE) thrombocytopenia (causes petechiae, purpura, hematemesis, epistaxis) infections eczema

wiskott-aldrich syndrome: findings

+ IgE, IgA - IgM thrombocytopenia

leukocyte adhesion deficiency (type 1): defect

defect in LFA-1 integrin (CD18) protein on phagocytes

leukocyte adhesion deficiency (type 1): presentation

recurrent bacterial infections absent pus formation delayed separation of umbilical cord

leukocyte adhesion deficiency (type 1): findings

neutrophilia

chédiak-higashi syndrome: defect

autosomal recessive defect in lysosomal trafficking regulator gene (LYST) = microtubule dysfunction in phagosome-lysosome fusion

chédiak-higashi syndrome: presentation

recurrent pyogenic infections by staph and strep partial albinism peripheral neuropathy

chédiak-higashi syndrome: findings

giant granules in neutrophils

chronic granulomatous disease: defect

lack of NADPH oxidase => decreased reactive oxygen species and absent respiratory burst in neutrophils

chronic granulomatous disease: presentation

increased susceptibility to catalase-positive organisms

chronic granulomatous disease: findings

abnormal dihydrorhodamine (DHR) flow cytometry test nitroblue tetrazolium dye reduction test no longer preferred

where does positive selection occur for differentiation of T cells?

thymic cortex

where does negative selection occur for differentiation of T cells?

thymic medulla

wiskott-aldrich syndrome: treatment

HLA-matched bone marrow transplantation