344 Primary Immune Deficiency Diseases

Question 1

Most frequent symptom prompting the diagnosis of PID (H20 C344 P2488)

Answer 1

Recurrent or unusually severe infections

Question 2

Infections of the respiratory tract suggests (H20 C344 P2488)

Answer 2

Defective antibody response

Question 3

Complement deficiencies, signaling defects of innate immune responses, asplenia, or defective antibody responses can result in (H20 C344 P2488)

Answer 3

Invasive bacterial infections

Question 4

Viral infections, recurrent Candida infections, and opportunistic infections are generally suggestive of: (H20 C344 P2488)

Answer 4

Impaired T cell immunity

Question 5

Skin infections and deep seated abscesses primarily reflect: (H20 C344 P2488)

Answer 5

Innate immune defects

Question 6

Periodicity of cyclic severe congenital neutropenia (H20 C344 P2489)

Answer 6

3 weeks

Question 7

Most frequent inheritance pattern of severe congenital neutropenia (H20 C344 P2489)

Answer 7

Autosomal dominant

Question 8

Hallmark of severe congenital neutropenia (H20 C344 P2489)

Answer 8

Absence of pus

Question 9

Gain of function mutation is seen in this chemokine in WHIM syndrome (H20 C344 P2489)

Answer 9

CXCR4

Question 10

Syndrome that involves primary failure of the development of the spleen (H20 C344 P2490)

Answer 10

Ivemark syndrome

Question 11

Effective prophylactic antibiotic for asplenia and complement deficiency (H20 C344 P2490-1)

Answer 11

Oral penicillin

Question 12

Leukocyte adhesion deficiency I is caused by mutations in this gene (H20 C344 P2490)

Answer 12

Beta-2 integrin

Question 13

Aside from pus-free skin/tissue infection, patients with leukocyte adhesion deficiency III will also develop this symptom (H20 C344 P2490)

Answer 13

Bleeding

Question 14

There is a primary defect in this transporter in the extremely rare leukocyte adhesion deficiency II (H20 C344 P2490)

Answer 14

Fucose transporter

Question 15

Inheritance pattern in ~70% of chronic granulomatous disease (H20 C344 P2490)

Answer 15

X-linked recessive

Question 16

Treatment for inflammatory/granulomatous lesions in chronic granulomatous disease (H20 C344 P2491)

Answer 16

Glucocorticoids

Question 17

Now an established curative approach for CGD (H20 C344 P2491)

Answer 17

HSCT

Question 18

Mendelian susceptibility to mycobacterial disease is a group of diseases characterized by a defect in: (H20 C344 P2491)

Answer 18

IL-12 - IFN gamma axis

Question 19

Aside from mycobacterial infections, patients with Mendelian susceptibility to mycobacterial disease are prone to developing infections with these organisms (H20 C344 P2491)

Answer 19

Salmonella spp.

Question 20

Toll-like receptor pathway deficiencies usually present with early onset, invasive infections with this organism (H20 C344 P2491)

Answer 20

Streptococcus pneumoniae

Question 21

Patients with toll-like receptor pathway deficiency have a very specific vulnerability to: (H20 C344 P2491)

Answer 21

Herpes simplex encephalitis

Question 22

Patients with complement deficiency, particularly in the alternate pathway and in the lytic phase, are predisposed to infections by: (H20 C344 P2491)

Answer 22

Niesseria spp.

Question 23

Tests for complement deficiciency (H20 C344 P2491)

Answer 23

CH50 and AP50

Question 24

Patients with complement deficiency are predisposed to autoimmune disease, notably: (H20 C344 P2491)

Answer 24

Systemic lupus erythematosus

Question 25

Lab finding that is strongly suggestive of severe combined immunodeficiency in >90% of cases

Answer 25

Lymphocytopenia

Question 26

Abnormal costochondral junctions suggest this PID (H20 C344 P2493)

Answer 26

Adenosine deaminase deficiency

Question 27

Adenylate kinase 2 deficiency results in this PID (H20 C344 P2493)

Answer 27

Reticular dysgenesis

Question 28

DiGeorge syndrome is diagnosed based on the identification of a homozygous deletion in the long arm of this chromosome (H20 C344 P2493)

Answer 28

Chromosome 22

Question 29

CHARGE syndrome results from deficiency of: (H20 C344 P2493)

Answer 29

CHD7

Question 30

Subset of T cell deficiencies that present with a unique phenotype, including early-onset erythrodermia, alopecia, hepatosplenomegaly, and failure to thrive (H20 C344 P2493)

Answer 30

Omenn syndrome

Question 31

Functional T cell defect that results in chronic obstructive pulmonary disease and severe vasculitis (H20 C344 P2493)

Answer 31

HLA class I deficiency

Question 32

Most frequently encountered T cell PID with DNA repair defects (H20 C344 P2494)

Answer 32

Ataxia-telangiectasia

Question 33

Defect in immunodeficiency with centromeric and facial anomalies (ICF syndrome) (H20 C344 P2494)

Answer 33

Defective DNA methylation

Question 34

Characterized by facial dysmorphy, defective loss of primary teeth, hyperextensibility, scoliosis, and osteoporosis (H20 C344 P2494)

Answer 34

Autosomal dominant hyper-IgE syndrome

Question 35

Bacterial prophylaxis for autosomal dominant hyper-IgE syndrome (H20 C344 P2494)

Answer 35

Immuniglobulin substitution

Question 36

X-linked disease typically characterized by recurrent bacterial infections, eczema, and bleeding caused by thrombocytopenia (H20 C344 P2494)

Answer 36

Wiskott-Aldrich syndrome

Question 37

Most common mutated gene in agammaglobulinemia (H20 C344 P2496)

Answer 37

BTK gene

Question 38

Agammaglobulinemia can be observed in patients with this disease despite normal peripheral B cell counts (H20 C344 P2496)

Answer 38

Immunodeficiency with centromeric and facial anomalies (ICF) syndrome

Question 39

Rare B cell PID characterized by defective immunoglobulin class switch recombination (H20 C344 P2496)

Answer 39

Hyper IgM syndromes

Question 40

Most common PID (H20 C344 P2496)

Answer 40

IgA deficiency

Question 41

Half life of IgG antibodies

Answer 41

21-28 days

Question 42

Treatment for patients with hypogammaglobulinemia, residual antibody production capacity, and complete IgA deficiency

Answer 42

IgA-free IgG preparations

Question 43

Most frequent trigger of HLH (H20 C344 P2497)

Answer 43

Epstein Barr virus

Question 44

Cytotoxic agent used in the treatment of HLH (H20 C344 P2497)

Answer 44

Etoposide

Question 45

A hallmark of this condition is the presence of CD4-CD8-TCR α β+ T cells (H20 C344 P2497)

Answer 45

Autoimmune lymphoproliferative syndrome (ALPS)

Question 46

PID characterized by widespread inflammatory enteropathy, food intolerance, skin rashes, autoimmune cytopenias, and diabetes (H20 C344 P2497)

Answer 46

Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX)