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STEP 1 (5) > Immunodeficiency Disorders > Flashcards

Immunodeficiency Disorders Flashcards

1
Q

What causes X-linked agammaglobulinemia

A

Defect in BTK, a tyrosine kinase gene that results in no B cell maturation (X-linked recessive; think more in boys)

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2
Q

How might X-linked agammaglobulinemia present?

A

recurrent bacterial and enteroviral infections after 6 months (decreased maternal IgG)

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3
Q

What are the findings of X-linked agammaglobulinemia?

A

Absen B cells in peripheral blood

decreased Ig of ALL classes

Absent lymph nodes and tonsil

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4
Q

What causes Selective IgA deficiency?

A

Unknown but most common primary immunodeficiency

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5
Q

How might Selective IgA deficiency present?

A

Majority are ASYMPTOMATIC but can see upper respiratory and GI illness, autoimmune disease, atopy, and anaphylaxis to IgA containing blood products

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6
Q

Common variable inmmunodeficiency is a defect in B cell DIFFERENTIATION that can be caused by a no. of things. How might it present?

A

Can be acquired in 20s-30s and shows an increased risk of autoimmune disease, bronchiectasis, lymphoma, and sinopulmonary infections

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7
Q

What are the main findings of Common variable inmmunodeficiency?

A

Decreased plasma cells and immunoglobulins

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8
Q

What causes DiGeorge Syndrome?

A

22q11 deletion causing failure of the 3rd and 4th pharyngeal pouches to develop (absent thymus and parathyroids)

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9
Q

How does DiGeorge Syndrome present?

A

tetany (hypocalcemia)

recurrent viral/fungal infections

conotruncl abnormalities (e.g. tetralogy of Fallot or truncus arteriosus)

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10
Q

What are the main findings of Digeorge Syndrome?

A

decreased T cells, PTH, and calicum

Absent thymic shadow on CXR (present below)

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11
Q

How might IL-12 receptor deficiency present?

A

AR disease of decreased Th1 response and increased risk of disseminated mycobacterial and fungal infections (may present after BCG vaccine administration)

Decreased levels of IFN-y

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12
Q

What is Job syndrome?

A

Defeciency of TH17 cells due to STAT3 mutation causing impaired recrutiment of neutrophils to infection sites

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13
Q

How might Job syndrome present?

A

FATED

Facies

Cold (nonnflammaed) staph abscesses

retained primary teeth

elevated IgE (and decreased IFN-y)

Derm problems such as eczema

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14
Q

Describe chronic mucocutanoeus candidiasis

A

Disease of noninvascice candida albicans infections of skin and mucous membranes due to T-cell dysfunction

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15
Q

What causes SCID?

A

Several types including defective Il-2R gamma chain (most common, X-linked) and adenosine deaminase deficiency (AR)

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16
Q

How does SCID present?

A

Failure to thrive, chronic diarrhea, and trush

Reucrrent infections of all sources (e.g. bacterial, viral, fungal, and protozoal)

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17
Q

How is SCID tx?

A

Bone marrow transplant (no rejection concerns!)

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18
Q

What are some classic findings of SCID?

A

Decreased T cell receptor excision cricles (TRECS)

Absense of thymic shadow on CXR, germinal centera on lymph node biopsy, and T cells via flow cytometry

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19
Q

What causes ataxia-telangiectasia?

A

Defect in ATM gene leading to failure to repair DNA breaks and subsequent cell cycle arrest

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20
Q

How does ataxia-telangiectasia present (classic triad)?

A

Cerebellar defects, spider angiomas, and IgA deficiency

21
Q

What are the findings of Ataxia-telangiectasia?

A

Elevated AFP

Decreased IgA, IgG, and IgE

Lymphopenia and cerebellar atrophy

22
Q

What causes hyper-IgM syndrome?

A

Most commonly due to defective CD40L on Th cells causes a class switching defect (X-linked recessive)

23
Q

What are the classic symptoms of hyper-IgM syndrome?

A

Severe pyogenic infections early in life

opportunistic infections with Pneumocytsis, CMV, and Cryptosporidium

24
Q

What are the lab findings of hyper-IgM syndrome?

A

Elevated IgM and vastly decreased IgG, IgA, and IgE

25
Q

What causes Wiskott-Aldrich Syndrome?

A

Mutation in WAS gene (X-linked recessive; think in boys) causing T cells to be unable to reorganize actin cytoskeleton

26
Q

How might Wiskott-Aldrich Syndrome present?

A

Thrombocytopenic purpura

Eczema

Recurrent Infections

Increased risk of cancers

27
Q

What are the lab findings of Wisckott-Aldrich syndrome?

A

Decreased to normal IgG, IgM

Elevated IgE and IgA

Fewer and smaller platelets

28
Q

What causes leukocyte adhesion deficiency (type I)?

A

Defect in LFA-1 integrin (CD18) protein on phagocytes causing impaired migration and chemotaxis (AR)

29
Q

How might leukocyte adhesion deficiency (type I) present?

A

Recurrrent bacterial skin and MUCOSAL infections with absent pus formation

delayed seperation of the umbilical cord (30+ days)

and impaired wound healing

NOTE: A pseudo-neutrocytosis will be seen

30
Q

What causes Chediak-Higashi syndrome (AR)?

A

Defect in lyosomal trafficking regulator gene (LYST) causes microtubule dysfunction in phagosome-lysosome fusion (AR)

31
Q

How might Chediak-Higashi syndrome present?

A

Recurrent pyogenic infections by staph and strep spp.

infiltrative lymphohistiocytosis

partial albinism

peripheral neuropathy

progressive neurodegeneration

32
Q

What are the lab findings of Chediak syndrome?

A

pancytopenia and mild coag defects

33
Q

What causes CGD?

A

Defect in NAPDH oxidase causing impaired formation of ROS and respiratory burst in neutrophils (X-linked recessive)

34
Q

CGD places one at an increased risk of infection with which bugs?

A

Catalase + including:

Need PLACESS

Nocardia, Pseudomonas, Listeria, Aspergillus, Candida, E. Coli, S aureus, and Serratia

35
Q

Other findings of CGD?

A

Abnormal dihydrorhodamine test

Negative nitroblue tetrazolium blue reduction test

36
Q

Note about Bacterial infections and immunodeficiency

A

Decreased T cells typically leads to risk of SEPSIS

Decreased B cells leads to risk of encapsulated bacteria (SHiNE SKiS)

37
Q

Decreased granulocytes leads to increased risk of infection with which bacteria?

A

Stapylococcus

Burkholderia cepacia

Pseudomonas aeruginosa

Serratia

Nocardia

38
Q

T cell immunodeficiency mainly increases the risk of infection with which viruses?

A

CMV, EBV, JCV, VZV

39
Q

B cell immunodeficiency mainly increases the risk of infection with which viruses?

A

Enteroviral encaphalitis and poliovirus

40
Q

T cell immunodeficiency mainly increases the risk of infection with which fungi?

A

Candida and PCP

41
Q

B cell immunodeficiency mainly increases the risk of infection with which fungi?

A

Giardiasis (no IgA)

42
Q

Granulomatous immunodeficiency mainly increases the risk of infection with which fungi?

A

Systemic candida and Aspergillus

43
Q

Basic definitions of grafts:

A

Autograft- from self

Syngereic graft (isograft)-f rom identical twin/clone

Allograft- from nonidentical individual of same species

Xenograft- from diff. species

44
Q

Describe a hyperacute transplant rejection

A

Onset within MINUTES nd occurs due to pre-exisiting recipient Abs reacting to donor antigens (type II rxn) and activating complement causing widespread thrombosis of graft vessels (necrosis)

The graft must be removed

45
Q

Describe an acute transplant rejection

A

Onset with weeks to months and can be caused by a CD8 T cell rxn against donor MHCs or via Abs that develop after the transplant and induce complement

marked by vasculitis of graft vessels with dense lymphocytic infiltrate

Prevent with immunosuppressants

46
Q

Describe a chronic transplant rejection

A

Onset within MONTHS to YEARS and caused by a CD4+ T cell response to recipient APCs presenting donor peptides (both cellular and humoral components)

Marked by proliferation or vascular smooth muscle and parenchymal fibrosis (dominated by ateriosclerosis) due to T cell response

47
Q

What causes graft-vs.-host disease?

A

Grafted immunocompetent T cells proliefrate in the immunocompromised host and reject host cells with foreign proteins leading to SEVERE organ failure

Timeline varies

48
Q

How might GVD present?

A

Maculopapular rash, jaundice, diarrhea, and HTN

Usually in bone marrow and livert transplants (rich in lymphocytes)

Potential beneficial for BM transplant in leukemia pt.

STEP 1 (5) (11 decks)

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