allergy/immunology

Question 1

IgA deficiency

Answer 1

Most common immune deficiency
Sx: respiratory infxn (sinusitis, pneumonia, otitis media, bronchitis), GI (lots of diarrhea), autoimmune and rheumatic dx, atopic dx
Dx: serum concentrations of Ig
Sx: management of infections

Question 2

Common variable immunodeficiency

Answer 2

Sx: respiratory infections (h influ, moraxella, s pneumo) GI (giardia, campy), autoimmune disorers, increased risk of malignancy
Dx: quant Ig measurement, decreased antibody
Tx: IVIG replacement, manage infections

Question 3

SCID

Answer 3

Defective T and B cell fxn
Etiology: xlinked and auto recessive
Sx: increased susceptibility to infections, chronic diarrhea, failure to thrive
Dx: lymphopenia, quant Ig, tcell response depressed
Tx: IVIG, supportive care, PCP prophylaxis, bone marrow transplant can be curative

Question 4

ataxia telangiectasia

Answer 4

auto rec
Sx: combined immunodeficiency, cerebellar ataxia, oculocutaneous telangiectasias, predisposition to malignancy
Tx: tx infections and neuro issues, monitor for malignancies, avoid radiation

Question 5

Digeorge

Answer 5

CATCH-22
cardiac defects, abnormal facies, thymic hyperplasia, cleft palate, hypocalcemia

Deletion of 22q11

Question 6

wiscott aldrich syndrome

Answer 6

x linked combined ummunodeficiency, eczema, congenital thrombocytopenia
Sx: infections with encapsulated organisms (h influ, s pneumo), thrombocytopenia, eczema
Tx: bone marrow transplantation, IVIG, splenectomy

Question 7

bruton’s agammaglobulinemia

Answer 7

x linked
Sx: severe hypogammaglobulinemia with decreased mature b cells
- infections with encapsulated bacteria (s pneumo h influ), s aureus, enterovirus infections
Tx: IVIG

Question 8

chronic granulomatous disease

Answer 8

Defective NADPH oxidase system, impaired killing catalase positive bacteria and fungus - x linked
Sx: infections in lungs, lymph, liver, spleen bones and skin with abscess formation
- s aureus, pseudo, salmonella, klebsiella
Dx: NBT test
Tx: TMP-SMX, itraconazole, interferon gamma, bone marrow transplantation is curative

Question 9

schwachman - diamond syndrome

Answer 9

decreased neutrophil chemotaxis, cyclic neutropenia, pancreative exocrine insufficiency
Sx: recurrent soft tissue infection, chronic diarrhea, failure to thrive

Question 10

chediak higashi syndrome

Answer 10

neutropenia and thrombocytopenia

Sx: s aureus infections, parital oculoctaneous albinism

Question 11

early component deficiency

Answer 11

autoimmune diseases (SLE)

Question 12

late componnent deficiency

Answer 12

disseminated meningococcal and gonococcal infections

Question 13

deficiency or dysfunction of C1 esterase inhibitor

Answer 13

hereditary angioedema