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Flashcards in Immune Deficiencies Deck (13)
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1
Q

X-linked Agammaglobulinemia (Bruton)

A

B-cell disorder
Defect: BTK gene, no B cell maturation, X-linked Recessive
Presentation: Recurrent bacterial infections after 6 months of age, absent/scanty lymph nodes/tonsils, low Ig of all classes but normal CD19+ B cell count

2
Q

Selective IgA deficiency

A

B cell disorder
Defect: unknown
Presentation: Asymptomatic, but can see airway/GI infections, autoimmune associations, atopy, anaphylaxis to IgA-containing products

3
Q

Common variable immunodeficiency

A

B cell disorder
Defect: B cell differentiation
Presentation: 20-30yo with decreased plasma cells and Ig, risk of autoimmune, bronchiectatis, lymphoma, sinopulm infections

4
Q

Digeorge Syndrome

A

T cell disorder
Defect: 22q11 deletion, failed devt of 3rd-4th pharyngeal pouches > absent thymus and parathyroids
Presentation: Absent thymic shadow, recurrent viral/fungal infxns, tetany (hypocalcemia), conotruncal abnormalities (TOF, truncus arteriosus)

5
Q

IL-12 Receptor Deficiency

A

T cell disorder
Defect: Decreased Th1 response (less cell-mediated immunity)
Presentation: Disseminated mycobacterial and fungal infxn, decreased IFN-gamma

6
Q

Hyper IgE Syndrome (Job)

A

T cell disorder
Defect: Autosomal dom mutation in STAT3 gene, Th17 deficiency > impaired PMN recruitment
Presentation: FATED = coarse Facies, cold staph Abscesses, primary Teeth, high IgE, Derm issues (eczema) + decreased IFN-gamma

7
Q

SCID

A

B and T cell disorder
Defect: defective IL2-receptor gamma chain (x-linked) or defective adenosine deaminase (autosomal recessive)
Presentation: Failure to thrive, chronic diarrhea, thrush, recurrent bacterial/viral/fungal/protozoal infxns, decreased T-cell receptor excision circles, no thymic shadow, germinal centers on node biopsy

8
Q

Ataxia-Telangiectasia

A

B and T cell disorder
Defect: ATM gene > DNA ds breaks > cell cycle arrest
Presentation: Triad = spider angioma (telangiectasia), IgA deficiency, ataxia; Increased AFP, decreased Ig, cerebellar atrophy

9
Q

Hyper IgM Syndrome

A

B and T cell disorder
Defect: X-linked recessive defect of CD40L on Th cells, no class switching
Presentation: severe pyogenic infxn, Pneumocystis, Cryptosporidium, CMV; High IgM, Low IgG, IgA, IgE

10
Q

Wiskott-Aldrich Syndrome

A

B and T cell Disorder
Defect: X-linked recessive WAS gene mutation, T cells cannot reorganize actin skeleton
Presentation: WATER = Wiskott Aldrich Thrombocytopenia, Eczema, Recurrent infxns. High IgE and IgA, low IgG and IgM. Small platelets. Increased risk of autoimmune and malignancy

11
Q

Leukocyte Adhesion Deficiency 1

A

Phagocyte dysfunction
Defect: AR defective integrin (LFA1, CD18) > impaired chemotaxis
Presentation: Recurrent bacterial skin and mucosal infxns, no pus formation, impaired wound healing, delayed sep of umb cord, increased PMNs (not marginated) but none at site of infxn.

12
Q

Chediak Higashi

A

Phagocyte dysfunction:
Defect: AR defect (LYST gene) in microtubule phagolysosome fusion
Presentation: partial albinism, recurrent pyogenic infxn by staph and strep, peripheral neuropathy, progressive neurodegen, infiltrative lymphohistiocytosis (diagnostic); will see giant granules in PMNs and platelets, pancytopenia, mild coag defects

13
Q

Chronic Granulomatous Disease

A

Phagocyte dysfunction
Defect: X-linked recessive defect in NADPH oxidase > decreased reactive oxygen species and absent resp burst in PMNs
Presentation: Recurrent infxns with catalase+ organisms (PLACESS: Pseudomonas, Listeria, Aspergillus, Candida, Ecoli, Staph aureus, Serratia); abnormal dihydrodamine test, negative nitroblue tetrazolium dye test.