immunodeficiencies and graft rejections Flashcards
(33 cards)
B cell disorders
X-linked/Brutons agammaglobulinemia
selective IgA deficiency (MC)
Common variable immunodeficieny
X-linked/Brutons agammaglobulinemia
defect in BTK (TK gene) no B cell maturation X-linked recessive recurrent bacterial and enteroviral infections >6mo absent B cells in PBS decrease Ig of all classes absent lymph nodes and tonsils
selective IgA deficiency
defect unknown most common primary immunodeficiency majority asymptomatic Airway and GI infections Autoimmune disease Atopy Anaphylaxis to IgA
common variable immunodeficiency
defect in B cell differentiation
can be acquired in 20-30s
increased risk of autoimmune disease, brochiectasis, lymphoma, sinopulmonary infections
decreases plasma cells/Igs
T cell disorders
thymic aplasia/diGeorge
IL-12 R deficieny
autosomal dominant hyper-IgE syndrome (Job syndrome)
chronic mucocutaneous candidiasis
DiGeorge
22q11 deletion- detected by FISH
failure to develop 3rd/4th pharngeal pouches absent thymus and PT
CATCH-22
CATCH-22
Cardio-#1- tetralogy of fallot #2- truncus arteriosis (DiGeorge of the jungle swings into truncus of trees) Abnormal facies Thymic aplasia Cleft palate Hypocalcemia, hypoparathyroidism 22- chrom 22
IL-12 R deficiency
decrease Th1 response AR disseminated mycobacterial and fungal infections may present after BCG vaccine decreased IFN-Y
AD-hyperIgE syndrome/Jobs syndrome
deficiency of Th17 cells d/t STAT3 mutation-> imparied recruitment of neutros
FATED
increased IgE decreased IFN-y
FATED
course Facies non-inflamed staph Abscesses retained baby Teeth increased IgE Dermatologic (eczema)
chronic mucocutaneous candidiasis
T-cell dysfunction
many causes
non invasive recurretn candidasis infections
absent in vitro T cell proliferation in response to Candida
absent cutaneous rxn to candida
B and T cell deficiencies
SCID
Ataxia-telangectasia
Hyper-IgM syndrome
Wiskott-Aldrich syndrome
SCID
several types:
- defective IL-2R gamma chain (MC) X-linked
- adenosine deaminase deficiency AR
failure to thrive, chronic diarrhea, thrush, recurrent all kinds of infections
must get BM transplant
ataxia-telangiectasia
defects in ATM gene-> failure to repair double stranded breaks -> cell cycle arrest
triad: Ataxia, telangiectasia, IgA deficiency
findings for ataxia-telangiectasia
increased AFP
decreased IgA, IgG, IgE
lymphopenia, cerebellar atrophy
hyper IgM syndrome
MC defect is CD40L on Th cells cannot class switch x-linked recessive severe pyogenic infections early in life pneumocystis, cryptosporidum, CMV increased IgM decreased IgG, IgA, IgE
Wiskott-alrich syndrome
mutation in WAS gene x-linked recessive T cells cannot reorganize actin cytoskelton WATER decreased- normal IgG, IgM increased IgE, IgA fewer and smaller platelets increases risk of autoimmune diseases and malignancy
WATER
wiskott-aldrich
Thrombocytopenic purpura
Eczema
Recurrent infections
phagocyte dysfunction
leukocyte adhesion deficiency type 1
Cediak-higashi syndrome
chronic granulomatous disease
leukocyte adhesion deficiency type 1
defect in LFA-1 integrin (CD18) on phagocytes
autosomal recessive
recurrent bacterial sin and mucosal infections
NO pus
impaired wound healing, delayed separation of umbilical cord
increased neutros, but absent at site of infection
chediak-higashi syndrome
defect in lysosomal trafficking regulator gene (LYST)
microtubule dysfunction in phagosome-lysosome fusion
AR
recurrent pyogenic infections by Staph and strep
partial albinsim
peripheral neurophaty
progressive neurogeration
infiltraive lymphohistiocytosis
chediak-higashi fininding
giant granules in granulocytes and platelets
pancytopenia
mild coagulation
chronic granulomatous disease
defect of NADPH oxidase-> decreased respiratory burst in neutros
x linked MC
increased susceptibiliyt o Catalase +
abnormal dihydrorhodamine (flow cytometry) test
nitroblue tetrazolium die reduction test neg
Catalase +
CATs Need PLACESS Nocardia psuedomonas listeria aspergillus candida E. coli S. aureus Serratia
