Peds Immunodeficiencies Flashcards
1
Q
Burtons Cogneital Agammaglobulinemia
A
- X linked recessive (BTK = Tyrosine kinase)
- B cell maturation defect
- recurrent Infection –> Encapsulated Organism (Pseudamonas, S. pneumo, Haemophilus)
- Abscesnt Tonsils
- Dx: dec. Pro-B cell counts & Dec. in all Igs
- Tx: IVIg
2
Q
Common Variable Immunodef.
A
- B and T cell defect –> LOW Plasma cells
- Onset in 20 - 30s
- Pyogenic respiratory infections
- Dx: Dec. Plasma cell & in ALL Ig’s
- Tx: IV IG
3
Q
IgA Deficiency
A
- Most common immunodeficiency
- recurrent resp. & GI infections
- Dx: IgA dec. only
- Transfusion anaphylaxis
4
Q
Thymic Aplasia
A
- DiGeorge Syndrome
- T cell deficiency –> Viruses, Fungi, PCP
- Tetany (2/2 hypoCa) in 1st few days of life
- Xray -> absent thymic shadow
- Tx: Bone marrow & IV Ig
5
Q
Ataxia Telangictasia
A
- DNA repair defect
- Ataxia
- Spider Angioma
- IgA deficiency
- Dx: De.c IgA, G, E
6
Q
Severe Combined Immune Deficiency
A
- Lack B and T cells
- Chronic Candidiasis
- Chronic Diarrhea –> Failure to thrive
- Recurrent infections (viral, bacterial, fungal)
- Tx: Bone marrow transplant
7
Q
WIskott Aldrich Synd.
A
- X linked recessive
- Low IgM
- Thrombocytopenia (purpura)
- Bleeding
- Eczema
- Otitis media (encapsulated organisms)
8
Q
Chronic Granulomatous Disease
A
- X linked or Auto recessive
- Defect NADPH oxidase –> superoxide
- Encapsulated organisms (S. aureus, Candida, Klebsiella, Listeria, Pseudomonas, Aspirgillus)
- Dx: NItroblue Tetrazolium test
Tx: Bactrim daily + INF-gamma
9
Q
Leukocyte Adhesion Deficiency
A
- Leukocyte chemotaxic defect –> LFA-1 (IL 18) defect
- Recurrnt bacterial infections
- No pus formation
- Slow wound healing
- Dx: Abscent Neutrophils in infection site
10
Q
Cheiak-Higashii Syndrome
A
- Defect in phago-lysosome fusion
- Recurrent pyogenic (Staph & Strep) infections
- Parital albinism
- Dx: Neutrophils with giant
11
Q
Job Syndrome
A
- Impaired recruitment of netrophils (STAT3 mutation)
- Course faces
- Staph infections -> no Erythema or reddness
- Inc. IgE
- Eczema
