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First Aid Allergy and Immunology > First Aid, Chapter 8, Immunologic Disorders, Cellular or Complex Immune Deficiencies > Flashcards

First Aid, Chapter 8, Immunologic Disorders, Cellular or Complex Immune Deficiencies Flashcards

1
Q

Is ataxia-telangiectasia inherited or a mutation? What is the gene?

A

ATM; Ataxiatelangiectasia, mutated

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2
Q

What are the infections or clinical findings in ataxia-telangiectasia?

A
  • Progressive neuronal loss— normal at birth, ataxia begins ~2 years old, later in some patients, wheelchair-bound ~10 years old.
  • Oculomotor apraxia, dysarthria, and choreoathetosis
  • Telangiectasia (appears years after ataxia)
  • Sterility
  • Risk of leukemia or lymphoma
  • Immune deficiency— sinopulmonary infections
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3
Q

What are the lab findings in ataxia-telangiectasia?

A
  • Naïve T-lymphocyte (CD45RA) lymphopenia; poor mitogen responses
  • Can have hypogammaglobulinemi a and poor response to immunizations;
  • IgA deficiency (80%)
  • Elevated AFP and decrease CSA (colony survival assay) to assess radiosensitivity
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4
Q

What is the defect in ataxia-telangiectasia? Is it radiosensitive? Why?

A

Classswitching recombination defect

ATM is PI3 kinase, responsible for repair in DNA ds breaks; as a result, patients radiosensitive

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5
Q

What is the therapy for ataxia-telangiectasia?

A

Treatment and prophylactic antibiotics, IVIG, and chemotherapy

Avoid radiation from imaging

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6
Q

Which immunodeficiencies are associated with defects in the AIRE gene?

A

Chronic mucocutaneous candidiasis (CMC);

Autoimmune polyglandular syndrome (APS-1);

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)

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7
Q

Are defects in the AIRE gene inherited or mutated?

A

autosomal recessive

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8
Q

What are the infections or clinical manifestations of defects in the AIRE gene?

A

Chronic mucocutaneous candidiasis (CMC): Recurrent noninvasive thrush, candidal dermatitis, dystrophic nails, enamel hypoplasia

Autoimmune polyglandular syndrome (APS-1); Endocrinopathies:
Hypoparathyroid (most common)

Autoimmune polyendocrinopathycandidiasisectodermal dystrophy (APECED): Hypoadrenalism, pernicious anemia, DM, vitiligo, alopecia, and hepatitis

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9
Q

What are the lab findings in diseases caused by defects in the AIRE gene?

A

↓ T proliferation to mitogens and recall antigens

Some IgA deficiency

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10
Q

What is the treatment for diseases caused by defects in the AIRE gene?

A

Antifungal;

Treat autoimmune disease

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11
Q

What is the inheritance or mutation in CD40L deficiency (HIGM1, hyper-IgM type 1)?

A

X linked CD40L/CD154 mutation (TNFS5)

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12
Q

What are the infections or clinical findings in CD40L deficiency?

A

Opportunistic infection, fungal, bacterial, and viral;

Autoimmune hemolytic anemia and neutropenia

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13
Q

What are the lab values in CD40L deficiency?

A

↓ IgG, IgA, and IgE, levels. Variable high/normal IgM;

Neutropenia

Absent germinal centers

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14
Q

What is the defect in CD40L deficiency?

A

Ig class switch recombination deficiencies from defect in CD40-CD40L interaction

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15
Q

What is the treatment of CD40L deficiency?

A

IVIG, PCP prophylaxis GCSF, and HSCT

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16
Q

What is the mutation or inheritance of CD40 deficiency?

A

AR

CD40 absent

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17
Q

What is CD40 deficiency called?

A

HIGM3, hyper-IgM type3

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18
Q

What are the infections or clinical findings in CD40 deficiency?

A

Opportunistic infection, fungal, bacterial, and viral; Autoimmune hemolytic anemia and neutropenia

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19
Q

What are the lab values in CD40 deficiency?

A

↓ IgG, IgA, and IgE, levels. Variable high/normal IgM;

Neutropenia

Absent germinal centers

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20
Q

What is the defect in CD40 deficiency?

A

Ig class switch recombination deficiencies from defect in CD40-CD40L interaction

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21
Q

What is the treatment for CD40 deficiency?

A

IVIG, PCP prophylaxis, and GCSF

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22
Q

What is the inheritance or mutation in DiGeorge’s syndrome?

A

22q11.2 deletion (~90%)

10p13-14 deletion (Renal/GU defect)

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23
Q

What are the infections or clinical findings in DiGeorge’s syndrome?

A
  1. Cellular immune deficiency -> infections. +/- absence of part or all of the thymus
  2. Hypocalcemia parathyroid deficiency -> tetany/seizures
  3. Congenital heart disease (tetralogy of Fallot—most common

Type B interrupted aortic arch—2nd common)

Other features: lowset or posteriorly rotated ears, short philtrum, micrognathia, developmental delay, B-cell lymphoma, and autoimmune disease

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24
Q

What are the lab values in DiGeorge’s syndrome?

A

Complete: naive T cell

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25
Q

What is the mnemonic of DiGeorge’s syndrome?

A

CATCH 22 (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia, chromosome 22)

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26
Q

What is the therapy of DiGeorge’s syndrome?

A

Complete DGS: treat like SCID with thymus transplantation and IVIG

Antibiotic prophylaxis— depend on T-cell counts and recall

Live vaccines for patients who have normal T recall

Neuropsychiatric therapy, and surgery of congenital defects

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27
Q

What is the inheritance or mutation of defective NFkB regulation (NEMO NFκB essential modifier)?

A

X-linked incontinentia pigmenti (Null mutation of NEMO)

X-linked anhydrotic ectodermal dysplasia with immunodeficiency (Hypomorphic mutation in NEMO

LZ-NEMO mutation (X-linked MSMD (Mendelian susceptibility to mycobacterial diseases)

28
Q

What are the clinical findings or infections in x-linked incontinentia pigmenti (Null mutation of NEMO)?

A

Lethal in utero (male)

Scarring, alopecia, and hypodontia (female)

29
Q

What are the lab values in NEMO?

A

Hypogammaglobuline mia and poor antibody response to polysaccharide

TLR defect (NFκB is central in TLR activation)

Can have decreased NK cytotoxicity

Normal T cell-count and function

30
Q

What are the defects in NEMO?

A

Ectodysplasin A receptor cannot induce activation of NFκB +

Defect in CD40 activation pathway

31
Q

What is the treatment for NEMO?

A

IVIG and IFNγ

HSCT: under investigation—prior attempts resulted in engraftment difficulties and post transplant complications

32
Q

What are the infections or clinical findings in X-linked anhydrotic ectodermal dysplasia with immunodeficiency (hypomorphic mutation in NEMO)?

A

Male—reduced sweat, hyperthermia, hypotrichosis, and hypodontia, conical incisors, nail abnormality

Severe bacterial infections but poor inflammatory responses, opportunistic infections including mycobacteria

Female—usually normal

33
Q

What are the infections or clinical findings in LZ_NEMO mutation (X-linked MSMD)?

A

Normal ectoderm; Mycobacterium avium intracellulare is cause of infection.

Disseminated BCG.

34
Q

What is the defect in LZ-NEMO mutation (X-linked MSMD)?

A

Impaired production of IL-12 and IFNγ in response to CD40L.

35
Q

What is the therapy for LZ-NEMO?

A

Mycobacteria should be typified and treated

Antimycobacteri al prophylaxis in some patients

36
Q

What are the infections or clinical findings in the immune deficiency predominant NEMO?

A

Normal ectoderm;

Infections: bacteria, viral, and opportunistic

37
Q

What are lab findings in the immune deficiency predominant NEMO?

A

HIGM1/3 phenotype (combined immune defect)

38
Q

What is the defect in the immune deficiency predominant NEMO?

A

Defect in class switch recombination due to altered CD40 signaling

39
Q

What are the different genes affected in Hyper IgE syndromes (HIES, Job’s syndrome)?

A

AD-STAT-d

AR-DOCK8

AR-Tyk2

40
Q

What is the treatment for hyper IgE syndromes?

A

Prophylactic antibiotics (covering staph) and antifungal

IVIG in case of poor antibody response

41
Q

What is are the infections or clinical findings in AD-STAT-3 hyper IgE?

A

Recurrent Infections: abscesses, mucocutaneous candidiasis
Pneumonia with pneumatoceles

Severe eczema and eosinophilic pustular folliculitis

Characteristic facies: coarse features, prominent mandible, hypertelorism, and broad nose Skeletal abnormalities: retained primary dentition and scoliosis

Connective tissue disease: hyperextensibility and aortic aneurysms

42
Q

What are the lab values in AD-STAT-3 Hyper IgE?

A

IgE > 2000 IU/mL; Eosinophilia

Normal IgM Th17 levels decreased

43
Q

What are is the triad present in hyper IgE deficiencies? What is the characteristic infection profile? What are the secondary infections?

A

Triad of: recurrent skin and lung infections, severe eczema, and elevated IgE

Has characteristic infection profile: Staphylococcus aureus, Streptococcus pneumonia, Haemophilus influenzae, and Candida;

Secondary infection by: Pseudomonas aeruginosa and Aspergillus sp

44
Q

What are the infections or clinical findings in AR-DOCK8 hyper IgE?

A

Viral skin infections severe difficult to treat: HPV, HSV, VZV, molluscum

Mucocutaneous candidiasis Eczema and allergies

Risks of malignancies Pneumonias but no pneumatoceles

45
Q

What are the lab values in AR-DOCK8 and AR-Tyk 2 hyper IgE?

A

Low IgM

More prominent eosinophilia

Lymphopenia

46
Q

What are the infections or clinical findings in AR-Tyk2?

A

Same as DOCK8 + disseminated BCG Vasculitis

47
Q

What pathway is Tyk2 involved in?

A

Tyk-2 involves in Il-12 signaling pathway to produce IFN-γ

48
Q

What is the inheritance or mutation of immune dysregulation, polyendrocrinopathy, enteropathy, and X-linked inheritance (IPEX)?

A 
X-linked recessive 
FOXP3 mutation (not found in every case.)
49
Q

What are the infections in IPEX?

A

Severe diarrhea and FTT (enteropathy)

Early-onset type 1 DM thyroid disease, autoimmune cytopenia

Variable skin lesions: erythroderma, exfoliative dermatitis, eczema, psoriasis-like

Severe infections

Coronary artery disease

50
Q

What are the lab values in IPEX?

A

Villous atrophy with lymphocytic infiltrates in small bowel

Autoimmune antibodies

Cytopenia

Eosinophilia

High IgE, normal IgG (↓enteropathy), IgM

Normal B/T number and function exp. no Treg

51
Q

Why does FOXP3 mutation cause autoimmunity?

A

FOXP3 codes protein involved in Treg (CD4+CD25+) cell development Impair Treg  autoimmune

52
Q

What is the therapy for IPEX?

A

IVIG

Rx autoimmune and endocrine disease

HSCT

Parenteral nutrition

53
Q

What is the inheritance or mutation in X-linked lymphoproliferative disease (XLP-1)?

A

XLP-1: mutation in SH2D1A gene encodes SAP (SLAM-associated protein)

54
Q

What are the infections/clinical findings in XLP-1?

A
  1. Fulminant EBV mononucleosis
  2. Dysgammaglobulinemia— combined immunodeficiency with severe infections
  3. Lymphoma: B cell/Burkitt’s, splenomegaly
55
Q

What are the lab values in XLP?

A

HLH on BM biopsy

Low IgG, high IgM

↓ CD4 but high CD8. Impair T-cell function.

↓ NK cell number and function

Absent NKT cell

Anemia

56
Q

How does XLP-1 lead to HLH?

A

Failure to eliminate EBVinfected B cells -> prolonged Ag presentation + hyperactivation of CTL and macrophages -> HLH

57
Q

What is the therapy for XLP-1?

A

IVIG, HSCT, and chemo-therapy

58
Q

What is the inheritance or mutation for XLP-2?

A

XLP-2: XIAP ( X-linked inhibitor of apoptosis).

59
Q

What is the infection or clinical findings of XLP-2?

A

XLP-2: Colitis, predisposition to hemophagocytic lymphohistiocytosis

60
Q

What do cells in XLP-2 have increased susceptibility to?

A

XLP-2: increased susceptibility to apoptotic stimuli

61
Q

What is the inheritance or mutation of Wiskott-Aldrich syndrome?

A

WASp X-linked

62
Q

What is the clinical triad in Wiskott-aldrich syndrome? What are these patients at increased risk for?

A
  1. Thrombocytopenia + bleeding diathesis,
  2. eczema,
  3. recurrent infections.

Risk for: autoimmunity and malignancy (EBVrelated lymphoma)

63
Q

What are the lab values in Wiskott-Aldrich Syndrome?

A

↑ IgE, IgA;

↓ IgM; and

Normal IgG but impaired Ab responses.

Impair T-cell proliferation

↓ Platelet size

↓ Platelet function

64
Q

What are two mnemonics for Wiskott-Aldrich syndrome?

A

PET WASP:
pyogenic infection, eczema, thrombocytopenia, and WASp mutation

HOT ITCH THROM;
Wiskott-hot Aldrich-itch Syndrome Thrombocytopenia

65
Q

What is the treatment for Wiskott-Aldrich syndrome?

A

HSCT treatment of choice Treatment of infections, IVIG, and splenectomy

66
Q

What mutation causes APECED and what is the most common endocrinopathy seen in the disease?

A

AIRE mutation, hypoparathyroidism

67
Q

What mutation causes IPEX and what cell is affected by the disease?

A

FOXP3 mutation, Treg cell

First Aid Allergy and Immunology (68 decks)

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