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Flashcards in Immunodeficiencies Deck (23):

C1 esterase inhibitor deficiency

Hereditary angioedema. Bradykinin increase

ACEI are contraindicated


C3 Deficiency

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

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


C5-C9 deficiencies

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


DAF deficiency. From GPI Deficiency (anchor)

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


No T Cell: Susceptibility

Bacteria: Sepsis

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

Fungi: PCP (Pneumonia mostly), Cutaneous Candida


No B Cell: Susceptibility

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)


No Granulocyes: Susceptibility

Staph, Burkholderia cepacia, Serratia, Nocardia

No viral.

Fungal: Candida (Sepsis), Asperigullus


No complement




B cell tend to be recurrent bacterial

T cell tend to be fungal and viral


X-Linked (Bruton) Agammaglobulinemia

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


Selective IgA deficiency

Defect: Unknown, but #1 immunodeficiency

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

Findings: IgA


Common Variable Immunodeficiency

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


Thymic Aplasia (DiGeorge Syndrome)

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


IL-12 Receptor Deficiency

Defect: Decrease Th1 response. AR

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

Findings: Decrease IFN-y (no TH1)


Autosomal Dominant Hyper IgE Syndrome (Job Syndrome)

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


Chronic Mucocutaneous Candidiasis

T cell dysfunction. Many causes.

Noninvasive candida infections

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


Severe Combined Immunodeficiency (SCID)

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)


Ataxia Telangectasia

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


Hyper IgM

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


Wiskott-Aldrich Syndrome

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


Leukocyte adhesion deficiency

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


Chediak Higashi

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


Chronic Granulomatous Disease

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.