Immunodeficiencies Flashcards
IL 1-5 functions
Hot T-Bone stEAk: IL-1 fever IL-2 activates T cells IL-3 stimulated BM IL-4 -> IgE and IgG isotype IL-5 -> IgA and Eosinophils
Chemotaxis
C5a, LTB4, IL-8
Prevents complement binding on host cells
DAF (CD55 and CD59)
Deficiency -> Paroxysmal Nocturnal Hemoglobinuria -> Hemosiderinuria, hemolysis, thrombosis. -> dX Ham’s test (RBCs lyse at low pH) or flow cytometry (abset CD55,59) –> Tx: Warfarin, Iron, BMT
Bruton’s agammaglobulinemia
3 B’s: Boys (X-linked), B-cell deficiency (defective tyrosine kinase), recurrent Bacterial infections after 6mo.
boy with recurrent bacterial infections after 6mo
Bruton’s agammaglobulinemia
Thymic Aplasia
DiGeorge (22q11 deletion): CATCH-22
Cleft palate, Abnormal facies, Thymic aplasia, Cardiac defects, Hypocalcemia d/t absent parathyroid. Aberrant development of 3rd and 4th Branchial pouches.
*Velocardiofacial syndrome: variant with just palate, facial, cardiac defects
SCID
Usually ADA deficiency
- Recurrent infections: Cadidasis, RSV, VZV, HSV, measles, flu, parainfluenzae, PCP Pneumonia (d/t no T-cells)
- Chronic diarrhea (Giardiasis d/t no IgA)
- Failure to thrive
* No thymic shadow on newborn CXR
No thymic shadow
DiGeorge, SCID, MG
Wiskott-Aldrich Syndrome
WAITER: Wiskott-Aldrich, Immunodeficiency, Thrombocytopenia, Eczema (truncal), Recurrent pyogenic infections.
*No IgM v. capsular polysaccharides of bacteria, Low IgM, high IgA, X-linked
Eczema (truncal), Low platelets, Recurrent pyogenic infections
Wiskott-Aldrich (X-linked)
X-linked immunodeficiencies
WBC: Wiskott-Aldrich, Bruton’s agammaglobulinemia, CGD (+/-)
*Hyper IgM syndrome (one of three types is X-linked –> no CD ligand)
High IgM syndrome (no isotype switching)
- X-linked, no CD ligand
- AR, no CD40
- NEMO deficiency
Ataxia-telangiectasia
ATM gene mutation:
cerebellar Ataxia and low IgA, Telangiectasias of face >5yo, Malignancies (lymphomas, acute leukemias - avoid x-rays)
*Increased AFP possible >8mo
Low IgA counts, telangiectasias of face, uncoordinated
ATM - risk of lymphomas, acute leukemias
Selective IgA deficiency
Risk of anaphylaxis to blood products
IL-12 receptor deficiency
Mycobacterial infections
Phagocyte deficiencies
CGD, Chediak-Higashi syndrome, Job’s Syndrome, LAD syndrome
Impotent phagoctyes, granulomas, (-) nitroblue tetrazolium dye
CGD: NADPH oxidase deficiency (sometimes X-linked) –> no respiratory burst –> susceptible to Catalase + organisms (S. aureus, E. coli, Klebsiella, Aspergillus, Candida).
Tx: prophylactic TMP-SMX, IFN??
CGD
CGD: NADPH oxidase deficiency (sometimes X-linked) –> no respiratory burst –> impotent phagocytes –> granulomas –> susceptible to Catalase + organisms (S. aureus, E. coli, Klebsiella, Aspergillus, Candida).
Partial albinism, recurrent infections, neurologic disorders
Chediak-Higashi syndrome: Defective LYST (lysosomal transport) –> giant cytoplasmic granules in neutrophils.
Chediak-Higashi syndrome
Partial albinism, recurrent infections, neurologic disorders. Defective LYST (lysosomal transport) --> giant cytoplasmic granules in neutrophils.
Eczema, recurrent cold S. aureus abscesses, course facies with broad nose, doughy skin, deep set eyes, prominent forehead, 2 rows of teeth d/t retained primary teeth
Job’s syndrome: Neutrophil chemotaxis problem (PMNs don’t respond to C5a, LTB4) –> Hyper IgE and Eosinophils
Job’s Syndrome
Neutrophil chemotaxis problem, Hyper IgE and Eosinophilia: Eczema, coarse facies, cold abscesses
Delayed umbilical cord separation
Leukocyte Adhesion Deficiency syndrome: Abnormal integrins –> phagocytes unable to exit circulation.
LAD syndrome
Abnormal integrins –> phagocytes unable to exit circulation.
*Delayed umbilical cord separation
