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Immunodeficiency > immunodeficiency > Flashcards

immunodeficiency Flashcards

1
Q

Key Words for B Cell deficiencies

A
  • recurrent sinopulmonary infections with encapsulated bacter after 6 months
  • recurrent CNS enteroviral infections
  • recurrent hepatitis
  • growth and developmenta is normal
  • later possibly increase in autoimmune lymphoma
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2
Q

What is defect, genetics and presentation of bruton agammaglobulinemia?

A
  • defect in b-lymphocyte development
  • X-linked recessive Tyrosine Kinase gene
  • presents in males at age 6 to 9 months with recurrent sinopulmonary and mycoplasma infection
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3
Q

Findings and Tx of Bruson Agammaglobulenima

A
  • PE: no tonsils or lymph nodes
  • all IGs low, low to abscent B cells on flow cytometry
  • monthly IVIG
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4
Q

What is transient hypogammaglobulinemia of infancy?

A

-prlonged or increased physiologic hypogammaglobulinemia occuring at age 3 to 6 months and lasts age 3 to 5

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5
Q

Presenation transient hypogamma?

A
  • recurrent sinopulmonary infections starting at 10 months
  • increased atopic disease
  • chronic diarrhea; infections with giardia and C. diff
  • no sepsis or life threatening infections
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6
Q

Lab findings and Tx transient hypogamma?

A
  • low IgG and IgA; normal IgM
  • everything else relatively normla
  • may develop selective IgA deficiency
  • supportive care; IVIG if abx not working
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7
Q

What is the cause, genetics, and presentation of CVID?

A
  • phenotypically normal B cells that doe no differentiate into Ig producin cells
  • sporadic or AD
  • later onset with Bruton infections
  • -echoviral meningoencephalitis
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8
Q

What is later risk of CVID

A

-lymphoma

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9
Q

Findings and Tx of CVID

A
  • splenomegaly
  • can have increased tonsills / lymph nodes
  • low IgG, IgA, IgM
  • IVIG
  • must screen for anti IgA abs (remove from Ig if develop)
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10
Q

What is cause, genetic, and presentation selective IgA deficiency?

A

-no IgA
-AD with variable expression
-recurrent respiratory, GI, and urogenital infection
00intestinal giardiasis

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11
Q

What is the most common immunodeficiency

A

selective IgA

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12
Q

Risk later on of IgA deficiency

A

-malignancy, autoimmune disease

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13
Q

Findings and Tx IgA deficiency

A
  • no IgA and may have elevated IgM

- NO IVIG as they may have anaphylaxis

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14
Q

What can you infer if IgA is normal

A

probably not a permanent antibody deficiency

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15
Q

What are the most common presenting findings with T cell defects?

A
  • opportunistic infections (mycobacteria, eBV, cMV, candidia, pneumocystis carinii) within the first months of life
  • diarrhea
  • failure to thrive
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16
Q

What is the most common presentation for DiGeorge

A

hypocalcemia and seizures in neonate

17
Q

What must you make sure any blood product undergoes prior to giving to DiGeorge

A

irradiated

18
Q

What are the most common cardiac anomalies in DiGeorge?

A
  • issues with the great vessels / conotruncal

- -interrupted aortic arch, ToF, PA with VSD

19
Q

Cause and Genetics SCID

A
  • no immune function or NK cells

- X-linked or autosomal recessive; can also be ADA deficiency

20
Q

Presentation SCID

A
  • recurrent or persistent diarrhea with FTT in FIRST COUPLE OF MONTHS
  • early GVHD from mom’s cells crossing placenta
  • severe lyphomepnia
  • decreased Igs
  • no lymph nodes, tonsils, adenoids, or peyer patches
  • bacterial and opportunistic infections
21
Q

Tx SCID

A

stem cell in by 3.5 months

22
Q

Key Words WAS

A
  • x-linked recessive
  • atopic dermatitis
  • thrombocytopenic purpura
  • recurrent infections
23
Q

Presentation WAS

A
  • early prolonged bleeding
  • sepsis and meningitis 2/2 encapsulated organisms first year of life
  • later p. carinni and herpes infection
24
Q

Most common cause of death in WAS

A

malignancy 2/2 EBV infection

25
Q

Labs in WAS

A
  • moderate decrease in T cell

- low IgM; increased IgA / IgE and normalish IgG

26
Q

Tx WAS

A
  • monthly IVIG
  • bone marrow or cord blodo transplant
  • platelets, splenectomy for bleeding
27
Q

Genetics Ataxia Telangiectasia

A
  • ATM gene mutation causes thymic hypoplasia and decreased response to T and B cell mitogens
  • decrease in CD3 and CD4
28
Q

Presentation Ataxia Telangiectasia

A
  • progressive cerebellar ataxia after walking (eventual wheelchair)
  • chronic sinupoulmonary disease
  • oculocutaneous telangiectasia with onset 3 to 6 years
  • adenocarcinoma, lymphoreticular malignancy
29
Q

Lab and Tx of ataxia

A
  • low iGa; B and T cell deficiency

- supportive treatment

30
Q

Genetics, Presentation, Tx of Leukocyte adhesion deficiency

A
  • autosomal rescessive
  • infants with staph aureus and gram negative and fungal infections
  • delayed umbilical cord; omphalitis
  • gingitivitis, cchronic skin ulcers
  • NO PUS
  • will ahve high neutrophils in blood
  • supportive
31
Q

Genetics Chediak Higashi

A
  • autosomal recessive
  • abnormal lysosomes, storage granules, or vesicular structures
  • decreased neutrophil chemotaxis and killing power
  • also melanocytes are abnormal
32
Q

Key words Chediak Higashi

A
  • light skin / silvery hair (partial oculocutaneous albinism)
  • bleeding due to impaired platelet aggregation
  • recurrent mucocutaneous and respiratory infections with G+ and G-
  • motor and sensory neuropathy
  • lymphoma lie syndromes
33
Q

Labs Chediak Higashi

A

-nucleated blood cells have large inclusions

34
Q

Genetics and presentation and tx myeloperoxidase deficiency

A
  • autosomal recessive
  • usually clinically silent but can be disseminated candidiasis
  • usually lots of fungal infections
  • no tx
35
Q

Genetics and cause of chronic granulomatous disease

A
  • usually Xlinked recesssive

- cannot kill catalas positive organisms (staph aureus, aspergilllus, candidia, nocardia

36
Q

presentation CGD

A
  • recurrent pneumonia, skin, liver abscesses, lymphadenitiis, osteo
  • granuloma formation leading to things like intesintal fistula, pyloric obstructions, bladder obstruction
37
Q

Test CGD

A

-nitroblue or flow cytometric assay with dihydrorhodamine dye

Immunodeficiency (1 decks)

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