Immune Deficiencies Flashcards
X-linked (Bruton) agammaglobulinemia
B
Def: no BTK gene –> no B cell maturation
P/w: recurrent bacterial/enteroviral infections
Labs: normal CD19 B count, decreased ALL Ig; no LN/tonsils
Common variable immunodeficiency
B
Def: no B cell differentiation
P/w: increased AI dz, bronchiectasis/inf, lymphoma
Labs: decreased Ig & PCs
Selective IgA deficiency
B
MC 1’ immunodeficiency
P/w: most ASx, Airway/GI inf, AI dz, Atopy, Anaphylaxis to IgA products (e.g. blood transfusions)
Labs: IgA < 7
Thymic aplasia (DiGeorge syndrome) (T)
Def: 22q11 del –> no 3rd/4th pharyngeal pouch
P/w: hypoCa, recurrent viral/fungal inf, conotruncal heart abn
IL-12 R deficiency
T
Def: decreased Th1 response
P/w: disseminate mycobacterial/fungal inf (esp after BCG vaccine)
Labs: decreased IFN-gamma
AD hyper-IgE syndrome (Job syndrome)
T
Def: STAT3 mutation –> no Th17
P/w: course Facies, Abscess (staph), Teeth (retained 1’), IgE, Derm abn (eczema)
Labs: decreased IFN-gamma, increased IgE
Chronic mucocutaneous candidiasis
T
Def: T cell dysfxn
P/w: noninvasive C. albicans inf
Labs: no response to skin Candida Ag
SCID
B/T
Def: IL-2R gamma chain def (XR) or ADA (AR)
P/w: FTT, chronic diarrhea, thrush, recurrent inf –> TX = BMT
Labs: decreased TRECs & absent thymic shadow/GC/T cells
Ataxia-telangiectasia
B/T
Def: ATM gene def –> ds break –> cell cycle arrest
P/w: Ataxia, spider Angioma, IgA def
Labs: increased AFP, decreased all Ig (lymphopenia) & cerebellar atrophy
Hyper-IgM syndrome
B/T
Def: Th1 CD40L def (XR) –> no class switching
P/w: severe pyogenic inf; opportunistic inf
Labs: increased IgM, decreased all other Ig
Wiskott-Aldrich syndrome
B/T
Def: WAS def (XR) –> T cells can’t reorg actin
P/w: W-A, Thrombocytopenic purpura, Eczema, Recurrent inf
Labs, increased IgE/IgA, few/small platelets
Leukocyte adhesion deficiency (type 1)
Def: LFA-1 integrin (CD18) def on phagocytes (AR)
P/w: recurrent bacterial skin/muc inf, no pus, impaired wound healing, delayed umbilical separation
Labs: increased serum neutrophils
Chediak-Higashi syndrome
Def: LYST def (AR) –> MT dysfxn –> no phago/lysosome fusion
P/w: recurrent strep/staph inf, partial albinism, neuropathy, lymphohistiocytosis
Labs: giant granules in neutrophils, pancytopenia
Chronic granulomatous disease
Def: NAPDH oxidase def
P/w: increased catalase+ inf (Pseudomonas, Listeria, Aspergillus, Candida, E coli, Staph, Serratia)
Labs: abn dihydrorhodamine flow & neg nitroblue tetrazolium test –> d/t no superoxide
