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SuprIM > 344 Primary Immune Deficiency Diseases > Flashcards

344 Primary Immune Deficiency Diseases Flashcards

1
Q

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

A

Recurrent or unusually severe infections

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2
Q

Infections of the respiratory tract suggests (H20 C344 P2488)

A

Defective antibody response

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3
Q

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

A

Invasive bacterial infections

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4
Q

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

A

Impaired T cell immunity

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5
Q

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

A

Innate immune defects

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6
Q

Periodicity of cyclic severe congenital neutropenia (H20 C344 P2489)

A

3 weeks

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7
Q

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

A

Autosomal dominant

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8
Q

Hallmark of severe congenital neutropenia (H20 C344 P2489)

A

Absence of pus

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9
Q

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

A

CXCR4

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10
Q

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

A

Ivemark syndrome

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11
Q

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

A

Oral penicillin

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12
Q

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

A

Beta-2 integrin

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13
Q

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

A

Bleeding

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14
Q

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

A

Fucose transporter

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15
Q

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

A

X-linked recessive

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16
Q

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

A

Glucocorticoids

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17
Q

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

A

HSCT

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18
Q

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

A

IL-12 - IFN gamma axis

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19
Q

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

A

Salmonella spp.

20
Q

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

A

Streptococcus pneumoniae

21
Q

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

A

Herpes simplex encephalitis

22
Q

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

A

Niesseria spp.

23
Q

Tests for complement deficiciency (H20 C344 P2491)

A

CH50 and AP50

24
Q

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

A

Systemic lupus erythematosus

25
Q

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

A

Lymphocytopenia

26
Q

Abnormal costochondral junctions suggest this PID (H20 C344 P2493)

A

Adenosine deaminase deficiency

27
Q

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

A

Reticular dysgenesis

28
Q

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

A

Chromosome 22

29
Q

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

A

CHD7

30
Q

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

A

Omenn syndrome

31
Q

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

A

HLA class I deficiency

32
Q

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

A

Ataxia-telangiectasia

33
Q

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

A

Defective DNA methylation

34
Q

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

A

Autosomal dominant hyper-IgE syndrome

35
Q

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

A

Immuniglobulin substitution

36
Q

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

A

Wiskott-Aldrich syndrome

37
Q

Most common mutated gene in agammaglobulinemia (H20 C344 P2496)

A

BTK gene

38
Q

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

A

Immunodeficiency with centromeric and facial anomalies (ICF) syndrome

39
Q

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

A

Hyper IgM syndromes

40
Q

Most common PID (H20 C344 P2496)

A

IgA deficiency

41
Q

Half life of IgG antibodies

A

21-28 days

42
Q

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

A

IgA-free IgG preparations

43
Q

Most frequent trigger of HLH (H20 C344 P2497)

A

Epstein Barr virus

44
Q

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

A

Etoposide

45
Q

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

A

Autoimmune lymphoproliferative syndrome (ALPS)

46
Q

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

A

Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX)

SuprIM (31 decks)

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