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Dermatology Board Prep > DERM (09) Genodermatoses > Primary Immunodeficiencies > Flashcards

Primary Immunodeficiencies Flashcards

1
Q

What is the most common inheritance pattern of the primary immunodeficiencies?

A

Usually AR, but there are a few x-linked

X-linked: anhidrotic ectodermal dysplasia w/ immunodeficiency, chronic granulomatous disease, severe combined immunodeficiency syndrome, Wiskott-Aldrich, Bruton’s agammaglobulinemia, and IPEX syndrome

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2
Q

What signs should increase your concern for primary immunodeficiency?

A

Increased frequency and duration of bacterial, viral, and/or fungal infections

  • Opportunistic infections like atypical mycobacteria or deep fungal infections
  • Failure to thrive
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3
Q

What cutaneous infections can be seen in primary immunodeficiencies?

A

Recurrent staph/other bacterial pyodermas, extensive viral infxn (warts, molluscum, and HSV), widespread dermatophyte infections, mucocutaneous candidiasis

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4
Q

When is hematopoietic stem cell transplantation indicated?

A

Severe combined immunodeficiencies, chronic granulomatous disease, Wiskott-Aldrich syndrome, IPEX, hemophagocytic lymphohistiocytosis (Chediak-Higashi and Griscelli), MonoMAC syndrome

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5
Q

What primary immunodeficiencies show erythroderma?

A

Omenn syndrome > other SCID, lennier

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6
Q

What primary immunodeficiencies show atopic phenotype (eczematous dermatitis and elevated eosinophils with IgE

A

Wiscott-Aldrich syndrome, Hyper IgE syndrome (STAT3>DOCK8), IgA deficiency, Omenn syndrome, IPEX syndrome

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7
Q

What primary immunodeficiencies show noninfectious cutaneous granulomas?

A

Ataxia-telangiectasia, SCID (RAG1), common variable immunodeficiency, chronic granulomatous disease

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8
Q

What primary immunodeficiencies show pigmentary dilution (Silvery hair and hypopigmentation)?

A

Griscelli syndrome, Chediak-Higashi syndrome

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9
Q

What is the gene mutation in Leiner’s disease?

A

C5 gene mutation –> complement deficiency

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10
Q

What is the disease presentation of Leiner’s disease?

A
  • Get erythrodermic seborrheic dermatitis
  • See recurrent infections, diarrhea, failure to thrive
  • Increased risk of meningococcal meningitis
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11
Q

What genes are mutated in Omenn syndrome?

A

RAG1/RAG2

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12
Q

What are the characteristic infections in Omenn syndrome?

A

Any (t-cells are auto-reactive too)

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13
Q

Distinct cutaneous findings in Omenn syndrome?

A

Erythroderma, alopecia, can see acute GVHD

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14
Q

What gene mutations are seen in SCID? What are the inheritance patterns

A

IL2RG (IL-2Rgamma chain) = most common, XLR inheritance

  • ADA = increased adenosine leads to lymphocyte toxicity; AR inheritance
  • ZAP70
  • JAK3; AR inheritance
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15
Q

What characteristic infections are seen in SCID?

A

Any

  • Can see candida, staph and strep infections, sepsis, viral diarrhea, otitis media, pneumonias (PCP and parainfluenza, in addition to bacteria
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16
Q

Most characteristic skin findings seen in SCID?

A

Erythroderma (less common), GVHD-like presentation (you get materno-fetal GVHD –> maternal transfer of T-cells, and they get rejected

No palpable lymph nodes, no tonsilar buds/lymphoid tissue

Failure to thrive

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17
Q

What is the gene mutation and inheritance pattern seen in Wiskott-Aldrich?

A

XLR, gene mutated is WAS (involved in actin filament assembly)

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18
Q

What infections are seen in Wiskott-Aldrich?

A

Recurrent encapsulated bacterial infections (otitis media, penumonia, and meningitis), HSV (as eczema herpeticum), HPV and PCP

Infections can lead to death in first decade in this syndrome

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19
Q

Characteristic cutaneous findings in in Wiskott-Aldrich?

A

Eczematous dermatitis (scalp, face, and flexures w/ secondary infections)

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20
Q

Extra cutaneous findings in Wiskott-Aldrich?

A

Thrombocytopenia (petechiae/purpura/epistaxis), small platelets, and bloody diarrhea

  • Food allergies/asthma/urticaria
  • Increased IgA, IgD, and IgE (decreased IgM)
  • Increased risk of non-Hodgkin’s lymphomas and other hematologic malignancies
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21
Q

What is the gene is mutated in ataxia-telangiectasia?

A

ATM gene

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22
Q

Characteristic skin findings in ataxia-telangiectasia?

A

Telangiectasias of skin and conjunctivae, noninfectious granulomas

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23
Q

Extracutaneous findings in ataxia-telangiectasia?

A

Truncal>peripheral ataxia

  • Sensitivity to ionizing radiation
  • Increased risk of hematologic malignancies
  • Females heterozygotes at increase risk for breast cancer
  • Decreased IgA, IgG, and IgE
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24
Q

What is the mutation seen in autosomal dominant hyper IgE syndrome?

A

STAT3

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25
Q

What are the characteristic infections seen in autosomal dominant hyper IgE syndrome?

A

Pyodermas, cellulitis, furuncles, abscesses, and paronychia

  • staph, candida, and strep common
  • 30% of abscesses are cold
  • Bronchitis, otitis media, empyemas, sinusitis, pneumotoceles, lung abscesses and pneumonia can lead to early death
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26
Q

Characteristic cutaneous findings in autosomal dominant hyper IgE syndrome?

A

Course facial features, broad nasal bridge and big nose

  • Diffuse dermatitis
  • Retention of primary teeth
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27
Q

Extracutaneous finidngs in autosomal dominant hyper IgE syndrome?

A

Retained primary teeth and issues with secondary teeth.

  • Osteopenia –> fractures, scoliosis, and hyperextensibility
  • Increased IgE and eos
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28
Q

What is the gene involved in autosomal recessive hyper IgE?

29
Q

What infections are seen with AR hyper IgE?

A

Any, but mycobacterial, severe viral, and results HPV and SCC can be seen

30
Q

Cutaneous findings in AR hyper IgE?

31
Q

What is the mutation in IgA deficiency?

32
Q

What are the characteristic infections in IgA deficiency?

A

Sinopulmonary bacterial infections and giardia gastroenteritis

33
Q

What are the cutaneous findings in IgA deficiency?

A

eczematous dermatitis and autoimmune conditions

34
Q

Extracutaneous findings in in IgA deficiency?

A

It is the most common immunoglobulin deficiency

  • Must check before given any patient IVIG
35
Q

What is common variable immunodeficiency?

A

Many genes (ICOS, CD19, CD20, CD21, CD8, LRBA1, TACI, BAFFR, NFKB2, IL21, PRKCD) which lead to hypogammaglobinemia

  • can see increased bacterial infections
  • In the skin can see non-infectious granulomas and autoimmune conditions
  • There is an increased risk for hematologic conditions
36
Q

What gene causes Bruton’s hypogammaglobinemia?

37
Q

What is the clinical phenotype of Bruton’s hypogammaglobinemia?

A

Helicobacter bilis associated pyoderma gangrenosum, you can see non-infectious granulomas, and there is an increased risk for hematologic malignancies

38
Q

Which immunodeficiency can aphthous ulcers be seen in?

A

Common variable immunodeficiency

39
Q

What skin findings can be seen in female carriers of the chronic granulomatous disease genes?

A

Discoid lupus, aphthous stomatitis, and Raynaud’s

40
Q

What are the two primary genes mutated in chronic granulomatous disease?

A

CYPBB (p91-phagocyte oxidase beta subunit)

CYPBA

others: NCF1, NCF2, NCF4

41
Q

What infections are seen in chronic granulomatous disease?

A

Pneumonia (Nocardia, apsergilosis, and staph), perianal abscesses, perioral dermatitis, and pyodermas due to catalase + organisms (staph aureus #1 )

42
Q

Cutaneous features in chronic granulomatous disease?

A

Noninfectious granulomas (cutaneous and extracutaneous esp in the GI tract), gingivitis/stomatitis

43
Q

Extracutaneous findings in chronic granulomatous disease?

A

Hepatosplenomegaly, diarrhea, and lymphadenopathy (large)

  • Abscess/fistula, granulomas of lung/liver/GU/GI
44
Q

How can you test for chronic granulomatous disease?

A

Nitroblue tetrazolium test (normally turns blue, turns yellow in this condition)

45
Q

What gene is mutated in leukocyte adhesion deficiency type I?

46
Q

What infections are typical in leukocyte adhesion deficiency type I?

A

Pyodermas, bacterial ulcerations can mimic pyoderma gangrenosum

47
Q

Characteristic cutaneous findings in leukocyte adhesion deficiency type I?

A

Delayed separation of the umbilical cord

Poor wound healing

48
Q

At what point are you concerned about umbilical separation being abnormal?

A

After 1-2 weeks

49
Q

What gene is mutated in Chediak-Higashi?

50
Q

What infections are seen in Chediak-Higashi?

A

Pyodermas, bacterial ulcerations that can mimic pyoderma gangrenosum

51
Q

What cutaneous findings are seen in Chediak-Higashi?

A

Pigmentary dilution, silvery hair and hypopigmentation of skin, hyperpigmentation may develop in acral sun-exposed areas

52
Q

What are some extracutaneous findings in Chediak-Higashi?

A

Accelerated lymphohistiocytic phase

  • Neurologic deterioration
  • Giant granules or melanosomes in leukocytes and melanocytes
53
Q

What is the gene mutations seen in Griscelli?

54
Q

What infections are seen in Griscelli?

55
Q

distinct cutaneous and extracutaneous findings in Griscelli?

A

Pigmentary dilution (silvery hair and hypopigmentation of skin)

  • Accelerated lymphohistiocytic phase
  • Neurologic deterioration (primarily with MYO5A mutation)
56
Q

What gene is mutated in hypohidrotic ectodermal dysplasia with immunodeficiency?

57
Q

Findings in hypohidrotic ectodermal dysplasia with immunodeficiency?

A

Conical incisors decrease or absence of sweat glands and hair follicles

  • Allelic to incontinentia pigmenti
58
Q

What genes are mutated in chronic mucocutaneous candidiasis/familial candidiasis?

A

CARD9, IL-17RA, IL-17F, CLEC7A, STAT1, TRAF3IP2

59
Q

What pathway is defective in chronic mucocutaneous candidiasis/familial candidiasis?

A

IL-17 and the Th17 cell function

60
Q

Cutaneous findings in chronic mucocutaneous candidiasis/familial candidiasis?

A

Mucocutaneous candidiasis and deep dermatophytosis

61
Q

What is the gene mutated in WHIM?

A

CXCR4 (neuts get stuck in bone marrow)

62
Q

What are the findings in WHIM?

A

HPV (with extensive verrucae)

  • Myelokathexis: peripheral neutropenia w/ retention of neutrophils in the bone marrow
63
Q

What are the genes mutated in EDV (epidermal dysplasia verruciformis)?

A

EVER1/EVER2

64
Q

Findings in EDV (epidermal dysplasia verruciformis)?

A

Caused by HPV 5,8,10,14,20,21,25

  • Extensive verruca plana along with thicker verrucous warts
  • Can see malignant transformation of warts to SCC
65
Q

Which HPV subtypes are implicated in EDV?

A

Caused by HPV 5,8,10,14,20,21,25

66
Q

What gene is mutated in Monomac?

67
Q

What infections are seen in monomac?

A

HPV, atypical mycobacteria, and deep fungal infections

  • Pulmonary alveolar proteinosis is seen
  • Increased risk of hematologic malignancies
68
Q

What is the mutation in immunodeficiency, polyendocrinopathy, and x-linked (IPEX)?

69
Q

Findings in immunodeficiency, polyendocrinopathy, and x-linked (IPEX)?

A

Eczematous dermatitis

  • Severe diarrhea
  • type I diabetes Mellitus, hypothyroidism
  • Autoimmune hemolytic anemia

DERM (09) Genodermatoses (13 decks)

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