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Foundations 6 > Primary Immunodeficiencies > Flashcards

Primary Immunodeficiencies Flashcards

1
Q

B cell defects have more infections from

A

Encapsulated bacteria

Invasive or chronic enterovirus

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2
Q

X-linked agammaglobulinemia inheritance and pathogenesis

A

X-linked
Mutation in BTK…Undergo heavy chain rearragnement but no light chain expression…cannot make mature B cells…reduced to absent levels of all antibodies because reduced B lymphcytes and incapable of generating plasma cells

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3
Q

X-linked agammabloulinemia clinical manifestation

A

Present at 6 mos
Recurrent and chronic sinpulmonary infection…bacterial infections from encapsulated (sepsis, mening, pneumo)…increased enteroviral infections (enteroviral meningoencephalitis)

On PE, underdeveloped lymphoid tissue and may lack tonsils and adenoids

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4
Q

X-linked agammaglobulinemia diagnosis

A

Reduced levels of AB…measure antibody titers to routine immunizations…genetic testing for BTK can confirm

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5
Q

HIGM syndrome inheritance

A

X linked of CD40L

Autosomoal recessive AID

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6
Q

HIGM pathogenesis

A

Defects in CD40 or AID…Affected macrophage activation…both CMI and HMI deficiency if CD40…only HMI if defect in activation deficiency

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7
Q

HIGM clinical manifestion

A

HUmoral defieicny common for all forms…activation defects similar to XLA…CD40L def similar to SCID…CMI deficiencies lead to intracell infections like Pneumocystis

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8
Q

HIGM diagnosis

A

Elevated IgM but reduced G, A, E…normal B and T cell numbers but reduced to absent memory B cell (CD27)…Can genetic test to confirm

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9
Q

IGA

A

Most common

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10
Q

Pathogenesis of IGA

A

Cannot really be associated with a single cause

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11
Q

Clinical manifestation of IGA

A

Recurrent sinopulmonary infections (otitis media or sinusitis…serios not common)
Allergic disorders
Autoimmune conditions (25%)
Transfusion reactions (may develop anti-IGA antibodies)

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12
Q

Diagnosis of IGA

A

Reduced levels of IgA with everything else normal

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13
Q

Manifestations of CMI dominated by

A

Deficiency in CD4 helper T response

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14
Q

DGS mutation and 3 things to look for

A

Cardiac abnormalities, hypoplastic thymus, and hypocalcemia (secondary to parathhyroid hypoplasia)…3rd and 4th pharyngeal pouch defects

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15
Q

DGS pathogenesis

A

Heterozygous deletion of T box transcription factor gene…regulates development of 3rd pharyngeal arch…degree of CMI and HMI but AB deficiency predominantes…normally have enough thymic tissue to develop T cells but defiencient in B cell activation

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16
Q

DGS clinical manifestation

A

COmplete present same as SCID…cannot form T cells and therefore no HMI or CMI

Partial can have a range depending on thymic hypoplasia…recurrent sinopulmonary infections but not normally life-threatening…early signs can resolve

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17
Q

DIagnosis of DGS

A

Measure TRECs via PCR…low TRECS suggest reduced T cells…complete DGS diagnosed with absent T and NK cells…partial will show reduced T cells

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18
Q

HIES pathogenesis

A

Defect in signal transducer and activator of transcription 3 (STAT3)…key TF in Th17 differentiation
Elevated IgE result of impaired T cell regulatory functions…cytokines increase that result in IgE, decrease that suppress IgE

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19
Q

HIES clinical manifestation

A

Diminshed Th17 function (fungal, myco, extracell) and impaired neutrohpil chemotaxis from IL-17 (skin infections)

Normally in first few week severe atopic dermatitis followed by skin infections…reccurent sinopulmonary as they get older…pneumonias are severe caused by S aureus, fungi, Pneumocystis

Can also have faical, neuro, vascular abnormalities as well

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20
Q

Diagnosis of HIES

A

Elevated IgE and eosinophilia…reduced or absent Th17 numbers

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21
Q

SCID pathogenesis

A

Defiency in T cell development…B/c of severe T cell definiency are unable to activate B cells and generate plasma cells, results in both HMI and CMI def…can divide into those that have no additional lymphocyte def or those with combination of B cell and NK cell def

22
Q

T-B+NK- SCID

A

Most common…X linked defvects in IL2 receptor gamma chain, auto rec def of JAK3 and complete DGS…absent pop of T cells and NK cells but normal B cell…most common single defect if IL2RG…IL2RG mediates cytokine induced T lymphocyte development and function…develop immature T cells but further differenatiation cannot occur…JAK3 mediates cytokine signal from IL2RG so same presentation

23
Q

T-B-NK+ SICD

A

Mutations in RAG1 and 2…Failed maturation of cells due VDJ error…Normally these mediate creation of dsDNA breaks at site of recomb

24
Q

Omenn syndrome

A

Hypomorphic mutation of RAG1 or 2…leaky SCID means you can produce some B and T cells but restricted diversity of TCRs and Igs so cells nonfunctional…lymphadenopathy and erythematous skin rash and eosinophilia…otherwaise same as SCID with failure to thirve and recurrent infection

25
Q

T-B+NK+ SCID

A

IL7R alpha chain def is second most common cause…important role in signaling T cell development

26
Q

T-B-NK-SCID

A

ADA mutation…normally removed toxic metabolites formed in lymphocytes…cell death occurs at progenitor stage and any stage afterwards…results in most profound lymphopenia

27
Q

Clinical manifestionas of SCID

A

Recurrent infections, chronic diarrhea and failure to thirv…persistent mucocutaneous candidiasis, recurrent viral infections, sinopulmonary (severe pneumos), sepsis, meningitisi and Pneumocystis…Absent lymphoid tissues so no tonsils, adenoirds, or lymph nodes

28
Q

DIagnosis of SCID

A

Low lymph blood count…not thymus shadow on X ray…serum Igs low…absent T cells and possibly B cells and NK cells depending on genetic defect

29
Q

AT inheritance and pathogenesis

A

Auto rec
ATM gene produces kinase that detects DNA damages and stalls progression of cell cycle to allow reapir…when defective, genes collect mutations and dominate in genetic rearragnements during Ig and TCR

30
Q

Clinical manifestations of AT

A

Cerebellar ataxia, oculocutaenous telangiectasia, and combined ID…ataxia is earliest finding…telangiectases…sinopulmonary infections but not Pneumocystis

More susceptible to cancers

31
Q

Diagnosis of AT

A

Triad - normal lympho counts during infancy but decrease during childhood…low IgA and IgG…decrease T cells

32
Q

WAS inferitance and pathogenesis

A

X-linked
Mutation in WASp gene that is expressed in hematopoietic cells and functions in actin cytoskeleton remodeling…abnormal remodeling leads to impaired migratio nand adhesion of cells during immunologic synapse…APCs cannot stimulate CD4s…impaired NK cells, ineffective Treg and ineffective thrombocytopoeisis

33
Q

Clinical manifestation of WAS

A

Triad - bleeding, recurrnet sinopulmonary infections and eczema (atopic dermatitis)

Also more susceptible to meningitis and develop from opportunistic like virus, fungi, and pneumocystis

34
Q

Diagnosis of WAS

A

Thrombocytopenia with lymphopenia sometimes…low IgM and possibly IgG levels because you cannot stimulate initial response…decreased T cells

35
Q

MHC class 1 def (Bare lympho syndrome type 1)

A

Autosomal def…decreased CD8s and NK cells…recurrent sinopulmonary and skin infections

36
Q

MHC class 2 def (Bare lymp syndrome type 2)

A

Auto rec…similar to SCID…low IgM, A, G, and E…normal B and T numbers but low CD4 and proportional increase of CD8 cells

37
Q

ZAP-70 def

A

Deficiency of zeta chain associated protein kinase
Protein activated with TCR binding and phosphorylates variety of downstream molecules that activate TFs associated with T cell prolif and differentiation…cannot produce CD8 and defective CD4 response

38
Q

CVID patho

A

All have common impairment of B cell diff with diminished Ig secretion…like from imparied T cell antigen resposne and reg function

39
Q

Clinical manifestation of CVID

A

Sinopulmonary during childhood but primarily diagnosed over 20 Y/O
Episodes of bacterial and viral sinusitis, otitis media, and conjunctivities…at least one episode of penumonia…increased Gastroenteritis risk

25% devcelpo AI dz due to impaired T regt

Twice risk of cancer mostly non-Hodgkins lymphoma

40
Q

DIagnosis of CVID

A

Low levels of IgG and low IgM or IgA…normal B and T but reduced B cells

41
Q

CGD inheritance and pathogenesis

A

NADPH oxidase protein complex…defective H2O2 generationj….inability to destroy microbes…most are X-linked

42
Q

CGD clinical manifestation

A

Recurrent pneumo, skin infections, and lymph node infections during infancy…most susceptible to catalase producing (Staph, Burkholderia cepacia, Serratia mascescans, aspergillus, nocardia)

Tend to have enlarged lympho nodes and abscess with pus

43
Q

DIagnosis of CGD

A

Lack of H2O2 or superoxide production along with infections

44
Q

LAD pathogenesis

A

Most occur because of defective Beta integrin that help leukos adhere to andothelial cells..CD18 is Beta chain most common

45
Q

Clinical manifestation of LAD

A

Delayed sep of umbilical cord…wounds have prolonged phase of healing and form dystreophic scars

Skin infections during infancy and oral infections…do not contain pus because of lack of neutros

46
Q

Diagnosis of LAD

A

Recurrent skin infections in infants devoid of pus…elevated neutrophils in blood…can confirm by looking of CD18 in blood

47
Q

CHS mutation and pathogen

A

AUto rec…with conginital neutropenia and partial oculocutaenous albinism

Defect in CHS 1 that results in failure to transport lysosomes to site of action…ineffective delivery of pigment granules in melanocytes and cytotoxic granules of CD8s…accumulation of grnaules in neutrohpils caused destruction (decreased numbers), impairs chemotaxis and phagocytic killing

48
Q

Clinical manifestations of CHS

A

Fair skin and hair…recurrnet penumonia, skin infections, and oral infections

49
Q

Diagnosis of CHS

A

Partial albinism and frequent skin infections…neutropenia and giant azurophilic granules in neutrophils and other granulocytes

50
Q

SCN

A

Many different mutations

All have increased apopsotis of myeloid cells

Reccurrent penumonia, skin infections, and oral infections

Diagnose with recurrent skin infections and neutropenia

51
Q

CLassical path defiency

A

Auto rec of C1,2,3,4…C2 most common…some impairment of AB immunity but generally okay immune functions…some get SLE
Because C3 is opsonin, some patients have infections from encapsulkated organisms

52
Q

Terminal path def

A

C5,6,7,8,9,

Gram neg infections….Neisseria infections with low mortality rate due to decreased cytokine response

Foundations 6 (17 decks)

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