Major basic protein (for killing protozoans & helminths)
Histaminase & arylsulfatase (anti-mast cells)
Antidote for tPA
Antidote for methotrexate
Leucovorin, to rescue normal cells (when myelosuppression occurs)
X-linked (Bruton's boys), dec'd B-cells b/c defective tyrosine kinase (but normal # pro-B cells). Bacterial infections after 6 months.
22q11 deletion --> 3rd & 4th pharyngeal pouches fail to develop --> no parathyroids (hypocalcemia --> tetany) or thymus (T-cell deficiency --> viral & fungal infections), plus malformed great vessels.
Presents at 3-6 months. Either both B & T cell development failure (adenosine deaminase deficiency) or just T-cells (IL-2 receptor deficiency). Recurrent infections of all kinds (bact, viral, fungal, protozoal); no allograft rejection.
IL-12 receptor deficiency
Deficiency of Th1 cells --> disseminated TB.
Defect in CD40L on T-helper cells, so no Ab class switching. Severe pyogenic infections, early in life.
(Both Hyper IgM & Job's = helper T-cells fail you with production of something: either CD40L or IFN-gamma)
X-linked defect in IgM response, but elevated IgE & IgA. WIPE: Wiskott-Aldrich, pyogenic Infections, Pupura, & Eczema (high IgE!).
Failed IFN-gamma production by T-helper cells --> failed neutrophil chemotaxis. Job was FATED: coarse Facies, non-inflamm pyogenic Abscesses, retained primary Teeth, high IgE, Derm probs (eczema).
Leukocyte adhesion deficiency, type 1
Defective LFA-1 integrin (CD18) on phagocytes --> recurrent bacterial infections w/no pus formation, neutrophilia, delayed separation of umbilicus
Pale (partial albinism), recurrent pyogenic infections, numb (peripheral neuropathy).
Auto recessive, defective microtubule formation & lysosomal emptying of phagocytic cells.
Chronic granulomatous disease
NADPH oxidase deficiency --> defective respiratory burst production --> defective killing. Presents in childhood, or later (milder).
Chronic mucocutaneous candidiasis
T-cells defective against Candida. Chronic skin & mucous membrane infections.
IgA deficiency; defective DNA repair enzymes. Presents ~age 1.
CVID (common variable immunodeficiency)
Often presents in 20s-30s. Deficient plasma cells (vs. Bruton's = deficient immature B-cells). Inc'd risk of NHL & autoimmune disease. Hepatosplenomegaly.