Emma Step 1 > WT - Immunodeficiencies > Flashcards

WT - Immunodeficiencies Flashcards

(21 cards)

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1
Q

B cell disorders

A
  • X-linked agammaglobulinemia (Bruton’s)
  • Selective IgA deficiency
  • Common variable immunodeficiency
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2
Q

T cell disorders

A
  • Thymic aplasia (DiGeorge)
  • Hyper-IgE syndrome
  • Chronic mucocutaneous candidiasis
  • IL-12 r. deficiency
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3
Q

B and T cell disorders

A
  • SCID
  • Ataxia Telangiectasia
  • Hyper-IgM syndrome
  • Wiskott-Aldrich Syndrome
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4
Q

Innate immunity disorders (Phagocyte dysfunction)

A
  • Leukocyte adhesion deficiency
  • Chediak Higashi Syndrome
  • Chronic-Granulomatous DIsease
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5
Q

Regulatory T-cell Disorders

A

IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-Linked)

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6
Q

X-linked agammaglobulinemia (Bruton’s)

A
  • B-cell precursors fail to become B cells (via Bruton tyrosine kinase defect)
  • light chains not prod
  • NO mature B cells –> absent Abs of ALL classes
  • underdeveloped germinal centers of lymph nodes (live vaccines contraindicated)
  • NO tonsillar tissue
  • XLR

sx:

  • recurrent rest bac infec (after 6 mo. due to dec maternal Ig)
  • loss of opsonic by Abs
  • H flu, step pneumonia
    classic: recurrent otitis media

tx: IVIG

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7
Q

common variable immunodeficiency

A

similar to SCID but older pt (ADULTS, 20-45), and females too

  • defect B cell maturation
  • NORMAL B cell count
  • absent plasma cells, Ig
  • usu unknown MOA

assoc: inc risk of AI disease, bronchiectasis, pernicious anemia, lymphoma, sinopulmonary infections

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8
Q

selective IgA deficiency

A
  • defective IgA B cells
  • usu asymp
  • unknown MOA
  • MOST COMM PRIMARY IMMUNODEFICIENCY

sx:
- Airway infec, recurrent sinusitis
- otitis media, PNA
- recurrent diarrheal illness from Giardiasis
- Anaphylaxis in blood transfusions (forms IgE against IgA)
- susceptibility to GIARDIASIS
- false + b-hCG

assoc: AI disease (SLA, RA)
dx: low IgaA, nml IgG, IgM

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9
Q

All B cell disorders present with these types of infec

A

sinopulmonary

GI

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10
Q

thymic dysplasia (DiGeorge syndrome)

A
  • 3rd/4th pharyngeal pouch failure
  • 22q11 deletion

DiGeorge triad: loss of thymus, parathyroid glands, congenital heart defects

Velocardiofacial triad: cleft palate, facial/mandible probs, cardiac defects

-recurrent viral infec, fungal/thrush

dx:

  • circ B cells=OK, nml CD20
  • T cells=REDUCED, dec CD3+
  • dec PTH
  • hypOCa, tetany
  • no thymus shadow
  • underdeveloped PARACORTEX in lymph nodes and peri-arteriolar sheath in spleen white pulp
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11
Q

hypER-IgE syndrome

A
  • rare
  • STAT3 mut –> Th17 deficiency –> dec IL-17
  • impaired neutrophil recruitment to infection sites
  • immune sx w/ skin and bone findings

sx:

  • derm (eczema)
  • cold abscesses (Staph)
  • recurrent sinusitis/otitis W/O FEVER
  • facial deformities (broad nasal bridge)
  • retained primary teeth (2 rows of teeth)
  • fractures from minor trauma

dx:

  • inc IgE
  • inc EOS
  • dec IFN-gamma
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12
Q

chronic mucocutaneous candidiasis

A

-defects in AI regulator genes (AIRE) –> normally responds to candida and also promotes neg selective in thymus

sx:
- recurrent candida infec (thrush/skin/esophagitis)
- T-cell dysfxn (absent in vitro response to candida)

dx:
- dysfx Th1 CKs
- dec IL-2, IFN-gamma
- inc IL-10

NOT due to Ab or B cell dysfxn

assoc: endocrine dysfxn (hypOparathyroidism, adrenal failure)

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13
Q

IL-12 r. deficiency

A
  • dec TH1 response, may present post BCG vaccine
  • AR
  • most comm cause of mendelian susceptibility to mycobacterial diseases (MSMD)

sx:
-disseminated mycobacterial and fungal infections

dx:
-dec IFN-gamma

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14
Q

SCID

A
  • purely an immune system disorder
  • loss of cell mediated + humoral immunity
  • usu primary T-cell problem
  • loss of B-cells, Abs is secondary
  • ANERGY

via

  • XLR (IL-2 r mut) * most common
  • adenosine deaminase gene deficiency –> inhib ribonucleotide reductase *2nd most comm
  • RAG mut (VDJ recomb defect)

sx: INFANTS
- chronic diarrhea, failure to thrive, thrush
- BUBBLE BABIES

dx:

  • loss of thymic shadow (but nml Ca/heart)
  • loss of germinal centers
  • dec T-cell r excision circles (nml DNA found in T cells in thymus) –> measure this bc maternal T cells may cause false nml counts

tx: will DIE unless BMT

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15
Q

ataxia telangiectasia

A
  • defective ATM gene –> defective NHEJ
  • AR

triad: ataxia, spider telangiectasia, IgA deficiency (sinus/respiratory infec)
- inc sensitivity to radiation

assoc: inc risk lymphomas

dx:
- inc AFP
- dec IgA, IgG, IgE

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16
Q

hyperIgM

Study These Flashcards
A
  • class switch disorder (fail of B-T binding (40-40L)
  • usu T cell prob
  • XLR

sx:

  • failed germinal centers
  • recurrent bac infec (encapsulated)
  • oppurtunistic infec (PCP, crypto, CMV)
  • loss of IgG opsonic

dx:

  • inc IgM
  • absent CD40L
17
Q

Wiskott-Aldrich Syndrome

Study These Flashcards
A
  • WAS mut –> defective T-cell cytoskeleton –> can’t react to APCs
  • XLR

sx: “water”
- thrombocytopenia
- eczema
- recurrent (pyogenic) infec

dx:

  • dec to nml IgG, IgM
  • inc IgE, IgA

tx: BMT

18
Q

Leukocyte Adhesion Deficiency (type I)

Study These Flashcards
A

-LFA1 integrin (CD18) phagocyte protein defect –> defective neutrophil/lymphocyte migration

sx: “lad”
- Late separation of umbilical cord
- Absent pus
- recurrent bac infec (skin/mucosal)

dx:

  • -neutrophilia (but can’t leave blood)
  • impaired wound healing
19
Q

Chediak-Higashi Syndrome

Study These Flashcards
A

LYST traffic regulator mut –> fail of lysosomes to fuse w/ phagosomes

  • mut –> MT dysfxn
  • AR

sx: “plain”
- Progressive neurodegeneration
- Lymphohistiocytosis
- Albinism (partial)
- peripheral Neuropathy

*surviving child=severe neuroimpair, wheelchair bound

dx:

  • GIANT granules in granulocytes and platelets
  • pancytopenia
  • mild coag defects
20
Q

Chronic granulomatous disease

Study These Flashcards
A
  • loss of NADPH oxidase –> phagocytes can’t gen H2O2 from O2 –> dec superoxide/respiratory burst in neutrophils
  • XL

sx:

  • inc susceptibility to cat + organisms (breakdown H2O2 so nothing for host to steal)
  • S. aureus, pseudomonas, Serratia, nocardia, aspergillus, Burkholderia cepacia

dx:

  • nitroblue tetrazoliumm dye FAILS TO TURN BLUE
  • abnml dihydrorhodamine (flow cytometry test) = dec green fluorescence
21
Q

IPEX

Study These Flashcards
A

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked)
-deficiency of FOXP3 (expression identified regulatory T cells)

sx:

  • enteropathy
  • endocrinopathy
  • nail dystrophy
  • dermatitis
  • other derm conditions

assoc: diabetes in male infants

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