Flashcards in Immunodeficiencies Deck (23):
C1 esterase inhibitor deficiency
Hereditary angioedema. Bradykinin increase
ACEI are contraindicated
Risk of Severe Pyogenic Sinus and Respiratory infections (Strept. pneumo, HiB)
Increase risk of Type III hyper sensitivity. Can't clear IC as well
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.
Cure = BM TP
No T Cell: Susceptibility
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
Fungal: Candida (Sepsis), Asperigullus
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)
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)
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.
Lymphopenia, cerebellar atrophy
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
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
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