Immune Deficiencies Presentations

Question 1

X-linked (Bruton) agammaglobulinemia

Answer 1

Recurrent bacterial and enteroviral infections after 5 months (decreased maternal IgG)

Question 2

Selective IgA deficiency

Answer 2

Majority Asymptomatic. Can see Airway and GI infections, Autoimmune disease, Atopy, Anaphylaxis to IgA-containing products.

Question 3

Common variable immunodeficiency

Answer 3

Can be acquired in 20s-30s; increased risk of autoimmune disease, bronchiectasis lymphoma, sinopulmonary infections

Question 4

Thymic aplasia (DiGeorge syndrome)

Answer 4

Tetany (hypocalcemia), recurrent viral/fungal infections (T-cell deficiency), conotruncal abnormalities (e.g. tetralogy of Fallot, truncus arteriosus)

Question 5

IL-12 receptor deficiency

Answer 5

Disseminated mycobacterial and fungal infections; may present after administration of BCG vaccine

Question 6

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Answer 6

FATED: coarse Facies, cold (noninflamed staphylococcal Abscesses, retained primary Teeth, inc. IgE, Dermatologic problems (eczema).

Question 7

Chronic mucocutaneous candidiasis

Answer 7

Noninvasive Candida albicans infections of skin and mucous membranes.

Question 8

SCID

Answer 8

Failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal, and protozoal infections. Treatment: bone marrow transplant (no concern for rejection)

Question 9

Ataxia-telangiectasia

Answer 9

Triad: cerebellar defects (Ataxia), spider Angiomas (telangiectasia), IgA deficiency

Question 10

Hyper-IgM syndrome

Answer 10

Severe pyogenic infections early in life; opportunistic infection with PCP, Cryptosporidium, CMV

Question 11

Wiskott-Aldrich syndrome

Answer 11

WATER: Wiskott-Aldrich: Thrombocytopenic purpura, Eczema, Recurrent infection. Increased risk of autoimmune disease and malignancy.

Question 12

Leukocyte adhesion deficiency (type 1)

Answer 12

Recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing, delayed separation of umbilical cord (>30 days)

Question 13

Chediak-Higashi syndrome

Answer 13

recurrent pyogenic infections by staph and strep, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltrative lymphohistiocytosis

Question 14

Chronic granulomatous disease

Answer 14

Increased susceptibility to catalase + organisms (PLACESS): Pseudomonas, Listeria, Aspergillus, Candida, E. coli, S. aureus, Serratia

Question 15

Ataxia-Telangiectasia simple

Answer 15

Ataxia, Telengiectasia, Sinopulmonary infections

Question 16

Chediak-Higashi simple

Answer 16

Oculocutaneous albinism, pyogenic infections, progressive neurologic dysfunction

Question 17

Chronic granulomatous disease simple

Answer 17

Severe bacterial and fungal infections, granuloma formation

Question 18

DiGeorge syndrome simple

Answer 18

Congenital heart disease, dysmorphic facies, hypocalcemia

Question 19

SCID simple

Answer 19

Severe bacterial & viral infections in infancy, chronic diarrhea, mucocutaneous candidiasis

Question 20

C5-C9 deficiency simple

Answer 20

Recurrent Neisseria infection

Question 21

Wiskott-Aldrich syndrome simple

Answer 21

Recurrent infections that worsen with age, easy bleeding, eczema