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16 Immuno > PID > Flashcards

PID Flashcards

1
Q

in xla, defects in b lymphocyte development result in __

A
  • severe hypogammaglobulinemia
  • absence of circulating b cells
  • small to absent tonsils
  • no palpable lymph nodes
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2
Q

protein affected in xla

A

burton tyrosine kinase (btk): expressed at high levels in all b lineage cells and myeloid series

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3
Q

suspect xla if:

A
  • lymphoid hypoplasia on pe
  • serum igg, iga, igm, ige are below 95% confidence limits
  • low levels of natural antibodies to type a and b rbc polysaccharide
  • low antibodies to immunizations
  • absence of b cells in flow cytometry
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4
Q

treatment for xla

A
  • replacement of immunoglobulin

- general supportive care

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5
Q

t/f cvid has only one genetic component

A

false, composed of several defects with autosomal dominant inheritance.

common: iga deficiency

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6
Q

clinical manifestations of cvid

A
  • autoantibody formation
  • normal sized or enlarged tonsils and lymph nodes
  • recurrent/chronic infections
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7
Q

most common well defined immunodeficiency disorder

A

selective iga deficiency

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8
Q

genetics of selective iga deficiency

A
  • autosomal dominant

- common in people with cvid (iga d -> cvid)

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9
Q

clinical manifestations of iga deficiency

A
  • infections in the respiratory, gi, and urogenital tracts
  • normal other igs
  • igg against cow’s milk and ruminant serum proteins
  • celiac like syndrome
  • autoantibodies and malignancy higher risk
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10
Q

diagnosis and treatment for iga def

A
  • diagnose only in >4 yo with low iga, normal igg ang igm
  • can have elevated igm and low igg2

can resolve spontaneously
tx: 5 times washed normal donor erythrocytes OR blood products from other iga deficient individuals
IVIG NOT INDICATED

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11
Q

treatment of choice for patients with primary t cell defects

A

transplantation of thymic tissue or mhc or half-matched parental hematopoietic stem cells

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12
Q

thymic hypoplasia results from __

A

dysmorphogenesis of 3rd and 4th pharyngeal pouches during early embryogenesis -> hypoplasia/aplasia of thymus and parathyroid glands

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13
Q

catch 22 syndrome

A 
cardiac defects
abnormal facies
thymic hypoplasia
cleft palate
hypocalcemia
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14
Q

charge association

A

seen in complete digeorge syndrome

  • Coloboma
  • Heart defect
  • choanal Atresia
  • growth or developmental Retardation
  • Genital hypoplasia
  • Ear anomalies (deafness)
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15
Q

clinical manifestations of digeorge syndrome

A
  • suggested by hypocalcemic seizures during neonatal period
  • partial: infections but grow normally
  • complete: like severe combined immunodeficiency (opportunistic infections + gvhd from nonirradiated blood)
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16
Q

diagnosis and tx of digeorge syndrome

A
  • low cd3 t cell
  • low for age absolute lymphocyte
  • pcr based genotyping (TBX1)

tx: cultured unrelated thymic tissue transplants, nonirradiated unfractionated bone marrow, peripheral blood transplants from hla-identical sibling

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17
Q

pathogenesis of scid

A

mutation in genes that encode components of immune system crucial for lymphoid cell development

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18
Q

clinical manifestations of scid

A
  • extremely low or absent t cells and ig
  • recurrent or persistent diarrhea, pneumonia, om, sepsis in first months
  • opportunistic infections
  • gvhd
  • diagnosed with nbs
19
Q

treatment for scid

A

hla-identical or t cell depleted haploidentical parental hematopoietic stem cell transplant

20
Q

distinguishing features of ada scid

A
  • affects primarily t cell function (normal nk and b cells)
  • rib cage abnormalities
  • abnormalities of chondro-osseous dysplasia
21
Q

distinguishing features of reticular dysgenesis

A
  • <1 g thymus, no hassall corpuscles, no thymocytes
  • adenylate kinase 2 mutation
  • tx: myeloablative matched sibling bone marrow transplant
22
Q

how to distinguish cid and scid

A

cid has low but not absent t cell function, neutropenia and eosinophilia

23
Q

characteristics of wiskott aldrich syndrome

A

wiskott and aldrich have ABS

  • atopic dermatitis
  • (bleeding diathesis) thrombocytopenic purpura with normal appearing megakaryocytes but small defective platelets
  • susceptibility to infection (opportunistics)
24
Q

cells affected in wiskott aldrich syndrome

A
  • platelets: microthrombocytopenia = excessive bleeding
  • helper t cells and b cells = impaired immune response
  • t cells and nk cells = impaired defense to pathogens and cancer

normal or low igg and igm, high ige and iga

25
Q

dx and tx for wiskott aldrich syndrome

A
  • dx: peripheral smear showing microthrombocytopenia and genetics showing mutated wasp gene
  • tx: bone marrow or cord blood transplantation
26
Q

cells affected in ataxia telangiectasia

A

tb 3/4 8! gamma! delta!
thymus

  • depressed t and b cell
  • cd3 and cd4 t cells reduced
  • cd8 normal or increase
  • gamma/delta t cells elevated
  • thymus: hypoplasitc, unorganized, no hassall corpuscles
27
Q

triad in ataxia telangiectasia

A

3As

  • cerebellar Ataxia
  • spider Angiomas
  • igA deficiency
28
Q

characteristic clinical features of hyper ige syndrome

A

SPOUC 2000

  • staph abscesses
  • pneumatoceles
  • osteopenia
  • unusual facial features
  • candida infection 2nd most common
  • ige >2000 iu/ml
29
Q

gene affected in autosomal dominant hyper ige

A

stat 3

30
Q

tx for hyper ige syndrome

A
  • long term administration of penicillinase resistant antistaph antibiotic
  • ivig, thoracic surgery, bone marrow transplant
31
Q

characteristics of lad

A
  • recurrent bacterial and fungal infection
  • slow healing ulcers
  • omphalitis (umbilical cord infection)
  • neutrophil leukocytosis >25,000/mm3
32
Q

gene mutations in lads

A

lad 1: integrin b2 common chain (cd18)
lad 2: fucosylated proteins (sialyl lewis x, cd15s)
lad 3: kindlin 3 (integrin)

33
Q

features unique to lad 2

A
  • neurologic deficits
  • cranial facial dysmorphism
  • absence of erythrocyte abo blood group antigen
34
Q

diagnosis of lad

A

flow cytometry for cd11b/cd18/ sialyl lewis x

35
Q

treatment for lad

A
  • early allogeneic hsct for lad 1 and 3

- maintenance tmp-smx

36
Q

genetics of chediak-higashi syndrome

A
  • lysosomal traffic regulator mutated (lyst)
37
Q

clinical manifestations of cheidak higashi

A
  • partial oculocutaneous albinism
  • solar sensitivity
  • photophobia
  • neuropathy
  • prolonged bleeding times
38
Q

accelerated phase of chediak higashi syndrome

A
  • genetic form of hemophagocytic lymphohistiocytosis
  • pancytopenia
  • high fever
  • lymphohistiocytic infiltration of liver, sppleen, and lns
39
Q

diagnosis of cheidak higashi syndrome

A
  • large inclusions in all nucleated blood cells
  • progressive neutropenia
  • abnormal platelet, neutrophil, and nk function
40
Q

treatment for cheidak higashi syndrome

A
  • high dose ascorbic acid

- hsct is curative

41
Q

genetic etiology of chronic granulomatous disease

A
  • cybb = gp91
  • ncf1 = p47
  • ncf 2 and cyba = p67 and p22
42
Q

pathogenesis of chronic granulomatous disease

A
  • cannot kill catalase positive microorganisms
  • no hydrogen peroxide
  • s aureus!!!, serratia marcescens, b cepacian, aspergillus, c albicans, nocardia, salmonella, mycobacterium
43
Q

clinical manifestations of chronic granulomatous disease

A
  • granuloma formation and inflammatory processes!!
  • recurrent pneumonia
  • lymphadenitis
  • hepatic / sc abscess
  • osteomyelitis at multiple sites
  • fhx of recurrent infections
  • infection with unusual catalase positive organism
44
Q

treatment for chronic granulomatous disease

A
  • hsct: curative
  • gene therapy
  • tmp-smx, interferon y, itraconazole

16 Immuno (8 decks)

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