Immune deficiencies Flashcards Preview

Boards > Immune deficiencies > Flashcards

Flashcards in Immune deficiencies Deck (18):

What three disorders effect ONLY B cells?

Bruton agammaglobulinemia
Selective IgA deficiency
Common variable immunodeficiency


A mother comes in with her 9-month boy concerned about how many bacterial infections her son has had in the last 3 months. What should be expected?

Bruton agammaglobulinemia

(male patient; started having recurrent bacterial infections after his mom's Ig's wore off at 6mo)


What is the defect in Bruton agammaglobulinemia?

X-linked recessive defect in BTK...a tyrosine kinase gene → NO B cell maturation → NO Ig's


A patient who has has a history of multiple sinus and lung infections experiences anaphylaxis after a blood transfusion. What does this patient likely have?

IgA selective immunoglobulin deficiency


What three disorders effect ONLY T cells?

Thymic aplasia (DiGeorge syndrome)
IL-12 receptor deficiency
Chronic mucocutaneous candidiasis


A mother brings her child in concerned about recurrent viral, fungal, and protozoal infections. You notice that the child's face has some abnormalities and he has facial spasms after you tap his cheek. What chromosomal abnormality does this child likely have? What is likely to be seen on CXR?

DiGeorge syndrome often has a chromosome 22q11 deletion

CXR will show an ABSENT thymic shadow


IL-12 receptor is an autosomal recessive disorder. What kind of infections would be expected?

Mycobacterial d/t ↓IFN-γ


A patient comes in concerned about how many candida infections she has had. What is likely causing her recurrent infections?

T cell dysfunction...chronic mucocutaneous candidiasis


What are four disorders of phagocyte dysfunction?

Autosomal dominant hyper-IgE syndrome (Job syndrome)
Leukocyte adhesion deficiency (type I)
Chediak-Higashi syndrome
Chronic granulomatous disease


FATED: a patient presents with coarse F-acies, cold staph A-bscesses, retained primary T-eeth, ↑ Ig-E, and D-ermatologic problems (eczema).

Job syndrome (Autosomal dominant hyper-IgE syndrome)


A mother brings in her child because he has had multiple skin and mucosal infections that are slow healing and non purulent. She also remembers that his umbilical cord hung around a lot longer than his siblings' did. What is the likely defect? What would be seen in the serum?

Leukocyte adhesion deficiency is caused by an autosomal recessive defect in LFA-1 integrin (CD18) on phagocytes → impaired migration and chemotaxis

Increased neutrophils in CBC...but absence of neutrophils at infection site


A dad brings in his daughter, who has partial albinism, because she has had recurrent respiratory tract and skin infections and has neurological disorders. What is causing this patient's symptoms?

Chediak-Higashi syndrome is an autosomal recessive defect in lysosomal trafficking regulator gene (LYST) → microtubule dysfunction in phagosome-lysosome fusion

(giant granules in neutrophils and platelets; pancytopenia; mild coagulation defects)


What causes chronic granulomatous disease? Susceptibility is increased for which pathogens?

X-linked recessive defect of NADPH oxidase

Oxidase(+) organisms (PLACESS)
P-seudomonas, L-isteria, A-spergillus, C-andida, E-coli, S-aureus, S-erratia


What are four B and T cell disorders?

Severe combined immunodeficiency (SCID)
Hyper-IgM syndrome
Wiskott-Aldrich syndrome


What is the one cause of SCID you should know for this test?

Adenosine Deaminase Deficiency


What causes Wiskott-Aldrich syndrome? What is the mnemonic for Wiskott-Aldrich syndrome? What does it stand for?

X-linked recessive disorder...T cells can't reorganize actin cytoskeleton


T-hrombocytopenic purpura
E-czema (on trunk)
R-ecurrent infections


What causes ataxia-telangiectasia? What are the signs/symptoms? What are the concerns?

Ataxia-telangiectasia is d/t a defect in the ATM gene → dsDNA breaks → cell cycle arrest

Three A's: A-taxia, spider A-ngiomas, Ig-A deficiency

Increased cancer risk (lymphoma/leukemia) and radiation sensitivity (avg age at death...25yo)


Hyper-IgM syndrome causes severe pyogenic infections early in life; opportunistic infection with Pneumocystis, Cryptosporidium, and CMV. What are the causes of this disorder?

X-linked → no CD40 ligand
Autosomal recessive → No CD40