Immunodeficiencies

Question 1

C1 esterase inhibitor deficiency

Answer 1

Hereditary angioedema. Bradykinin increase

ACEI are contraindicated

Question 2

C3 Deficiency

Answer 2

Risk of Severe Pyogenic Sinus and Respiratory infections (Strept. pneumo, HiB)

Increase risk of Type III hyper sensitivity. Can’t clear IC as well

Question 3

C5-C9 deficiencies

Answer 3

Can’t make MAC, recurrent Neisseria infecitons. Both Gonno and Menigeal

Question 4

DAF deficiency. From GPI Deficiency (anchor)

Answer 4

CD55 and CD59 respectively. PNH. Complement mediated lysis of RBC)

HAMM test. RBC lyse at low pH.

Tx: Iron, Warfarin.

Get Hemosiderouremia

Cure = BM TP

Question 5

No T Cell: Susceptibility

Answer 5

Bacteria: Sepsis

Virus: CMV, EBV, JCV, VZV. (Chronic infection w/ resp/GI viruses)

Fungi: PCP (Pneumonia mostly), Cutaneous Candida

Question 6

No B Cell: Susceptibility

Answer 6

Bacteria: Encapsulated Bacteria (SHiNE SKiS)
Strept. Pneumo, HiB, Neiserria, E. Coli, Salmonella, Klebsiella, GBS

Viral: Enteroviral encephalitis. (Polio vaccine contraindicated (Sabin))

Fungi: GI giardiasis (no IgA)

Question 7

No Granulocyes: Susceptibility

Answer 7

Staph, Burkholderia cepacia, Serratia, Nocardia

No viral.

Fungal: Candida (Sepsis), Asperigullus

Question 8

No complement

Answer 8

Neisseria

Question 9

Deficiencies

Answer 9

B cell tend to be recurrent bacterial

T cell tend to be fungal and viral

Question 10

X-Linked (Bruton) Agammaglobulinemia

Answer 10

Defect: Defect in BTK, tyrosine kinase gene. For B cell Maturation.

Presentation: Recurrent bacterial and enteroviral infections (progress to encephalitis). After 6 mo (maternal IgG)

Findings: Cd19+ count, still have B cells, just not mature.

Decrease pro-B, decreased Ig in all classes.

Little to any lymph nodes

Question 11

Selective IgA deficiency

Answer 11

Defect: Unknown, but #1 immunodeficiency

Presentation: Usually Asymptomatic. But can have airway and GI infections. Autoimmune, Atopy, anaphylaxis in transfusions)

Findings: IgA

Question 12

Common Variable Immunodeficiency

Answer 12

Defect: B Cell Differentiation. Many causes

Presentation: Acquired in 20s-30s. Increase risk of autoimmune disease, bronchiectasis, lymphoma, sinopulm infections

Findings: decrease plasma cells and immunoglobulins

Question 13

Thymic Aplasia (DiGeorge Syndrome)

Answer 13

Defect: 22q11 deletion (test w/ FISH). Failure for 3rd and 4th pharyngeal pouches to be developed. Absent thymus and parathyroid. CATCH-22

Presentation: Tetany (hypocalcemia), recurrent viral/fungal/protozoa infections (T cell deficiency). Conotruncal abnormalities (TOF and truncus arteriosus)

Findings: Decrease T cells, decrease PTH, Decrease Ca+2. Absent Thymic Shadow. 22q11 on FISH

Question 14

IL-12 Receptor Deficiency

Answer 14

Defect: Decrease Th1 response. AR

Presentation: Diseminated mycobacterial and fungal infection (TH1 decrease). Possibly with BCG vaccine.

Findings: Decrease IFN-y (no TH1)

Question 15

Autosomal Dominant Hyper IgE Syndrome (Job Syndrome)

Answer 15

Defect: Deficiency of TH17 cells due to STAT3 mutation (impaired recruitment of neutrophils to sites of infections)

Presentation: FATED (corase Facies, cold (noninflammed staph Abscesses, retained primary Teeth, increase IgE, Dermatologic (eczema)

Findings: Increase IgE, decrease IFN-y

Triad: Eczema, IgE, Staph Abscess w/o inflammation

Question 16

Chronic Mucocutaneous Candidiasis

Answer 16

T cell dysfunction. Many causes.

Noninvasive candida infections

Absent in vitro prolif from candida, and absent reaction to antigens

Question 17

Severe Combined Immunodeficiency (SCID)

Answer 17

Defect: Several Types: ADA deficiency (AR) and Defective IL-2R gmama chain (#1, XLR)

Presentation: Failure to thrive, chronic diarrhea, thrush. Recurrent infections.

Tx: Bonemarrow, no rejection

Findings: decrease Tcell receptor excision circles. Absent thymic shadow, germinal centers, and T cells (Flow)

Question 18

Ataxia Telangectasia

Answer 18

Defect: DNA repain gene for dsDNA (ATM) gene. Cell cycle arrest

Presentation: Triad: Ataxia, spinder Angiomas (after 5yo), igA deficiency

Findings: Increase AFP, after 8mo/age. loss of Course smooth pursuit w/ eyes.
Decrease IgA,G,E.
Lymphopenia, cerebellar atrophy

Question 19

Hyper IgM

Answer 19

Defect: AR (no CD40). but usually defective CD40L on Th1. Can’t class switch (XLR)

Presentation: Severe pyogenic infections early in life. opportunistic, PCP, Cryptosporidium, CMV>

Increase iGM, decrease everything else

Question 20

Wiskott-Aldrich Syndrome

Answer 20

Defect: WAS Gene mutation (XLR). T cell can’t reorganize actin cytoskeleton.

Presentation: (WATER). Wiskott-Aldrich, Throbmocytopenic purpura, Eczema, Recurrent pyogenic infections. Increase autoimmune, and malignancy

FIndings: low/nrom igG and igM.
High IgE and igA
Few and small plaetelts

Question 21

Leukocyte adhesion deficiency

Answer 21

Defect in LFA-1 integrin, CD18 on phagocytes. Impaired migration and chemotaxis. AR.

presentation: recurrent bacterial skin and muscoal infeciton. absent pus. Impaired wound healing. Delayed umbilical cord separation >30 Days

Findings: increase neutrophisl ,but not at infectin sight

Question 22

Chediak Higashi

Answer 22

Defect in lysosomal trafficking regulator gene (LYS)
Microtubule dysfunction in phagosome/lysosome fusion. AR

Presentation. Recurrent pyogenic staph and strept infection. partial albinism, peripheral neuropathy, progressive neurodegeneration. Lymphostiocytosis

Findings: Giant Granules. Pancytopenia, mild coags

Question 23

Chronic Granulomatous Disease

Answer 23

Defect of NADPH oxidase. XLR. Absent burse.

Susceptible to N PLACESS. Nocardia, Pseudo, Listeria, Aspergillus, candida, E coli, Staph, Serratia

Abnromal dihydrorhodamine on flow

Nitroblue tetrazolium test is neg.