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Genodermatoses Melissa > Immunodeficiency > Flashcards

Immunodeficiency Flashcards

1
Q

Wiskott-Aldrich clinical features, Ddx, Ix

A

AD , increased on scalp, face, secondary bacterial infection, herpes, infection via encapsulated organisms, meningitis, otitis media, increased susceptibility to hsv, hpv
Increased igA,D,E and decreased IgM, impaired cell mediated and humoral response. Increased risk of lymphoma esp nhl.
Thrombocytopenia, bloody diarrhoea
Ddx: AD, SCID, hyper igE, chronic granulomatous disease
Ix: fbc, Mean plt volume, ig levels, DNA analysis

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2
Q

Wiskott-Aldrich premature death

A

Premature death due to infection > haemorrhage> malignancy

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3
Q

Chronic granulomatous disease. Inheritance and gene

Fetal dx

A

X linked recessive 76% gp91-phone gene
Autosomal recessive 24% p47, p67 phox genes

Nitroblue tetrazolium reduction assay of fetal leukocytes

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4
Q

Wiskott-Aldrich age of onset

A

First few months of life with breathing problems

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5
Q

Chronic granulomatous disease. Onset, clinical features

A

Birth to 1 year
Impaired phagocytic burst. Mutation in NADPH oxidase enzyme
Skin: recurrent staph, periorifical dermatitis, abscesses, lymphadenopathy
Mucous membranes : ulcerative stomatitis. Chronic gingivitis
Lymph nodes: suppurative
Lungs: pneumonia, empyema
HSM, osteomyelitis

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6
Q

Investigations for chronic granulomatous disease

A

Nitroblue tetrazolium assay - leukocytes unable to reduce dye - no blue colour change, fbc, esr, ig, chest X-ray, imaging of lung,liver, bone
Immunoblot of defective enzyme

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7
Q

Wiscott-Aldrich syndrome

Inheritance, gene, gender

A

X linked recessive, WAS gene

Male only

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8
Q

Hyper IgE sydnrome
AKA
Inheritance, Gene
Age at presentation

A

Job syndrome
AD, STAT3 gene
first few months to first year of life

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9
Q

Aetiology Job syndrome

A

impaired regulation of IgE function and deficient neutrophil chemotaxis. Increase in susceptibility to infection

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10
Q

Clinical features of job syndrome

A

Skin: excoriated papules, pustules, furuncles, cellulitis, abscesses (30% cold) on scalp, neck, axillae, groin, periorbital, paronychia
S aureus, candida, strep
sinopulmonary infections: pneumatoceles, lung abscesses
coarse facies with broad nasal bridge and prominent nose, prognathism, high arched palate, prominent pores
Osetopenia - secondary fractures, hyperextensible joints, scoliosis
dental: retained primary teeth, lack of development of secondary teeth

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11
Q

Ddx of Job syndrome

A

Wiskott-Aldrich, DiGeorge, AD

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12
Q

Ix of suspected Job syndrome

A

IgE increased >2000, usually normalises in adults; IgD decreased.
FBC: eosinophilia usually accompanies IgE, anaemia and thrombocytopenia are NOT features (exclude Wiscott-Aldrich)
If infections: ESR, CRP, sputum, Chest xray, Chest CT, RFTs including DLCO
Bone: spinal xray, if joint concerns.
MRI brain: increased brain hyper intensities on T2, increased lacunar infarcts, increased chiari type 1
Genetics: STAT3 gene

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13
Q

SCID
inheritance and gene

Gender

A

x linked recessive (most common) gamma chain (IL2 receptor) gene (important as a signal transducer); lack of T and NK cells but normal B cells
AR: adenosine deaminase gene 20% (accumulation of adenosine, toxic to immature lymphocytes):lack of t, b, nk cells
AR: JAK3 in leukocytes gene
RAG hypomorphic mutations: including Omenn syndrome
Males 80%

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14
Q

SCID age at presentation

A

6 months

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15
Q

Pathogenesis of SCID

A

heterogenous group of genetic disorders that share similar clinical and immunologic deficiencies. Defect in cell and humeral immunity. Most lack ab dependent cellular cytotoxicity and NK cell function

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16
Q

Key features of SCID

A 
Skin 
Infections eg candida, staph, strep pyogenes. GVHD secondary to maternal lymphocytes, nonirradiated blood products. 
Sepsis
Mouth: oral candida
GIT: viral induced diarrhoea, FTT
Lyng: pneumonia 
ENT: otitis media
Immunology: lack tonsillar buds, lymphoid tissue despite infections
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17
Q

Investigations of suspected SCID

A

FBC: lymphopenia is hallmark, but may not always occur
Lymphocyte subsets,flow cytometry
Lymphocyte function tests via response to phytohemagglutinin (T cells), concanavalin (T cells), pokeweed (T and B cells)
Immunoglobulins
ADA assay, DNA analysis
HIV
Chest xray: absent thymic shadow, cupping and flaring of costochondral junction in ADA deficiency
Skin cultures, bx for GVHD

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18
Q

Mx of SCID

A

BMT
vigorous abs
irradiate all blood products, avoid live vaccines
ADA deficiency: replacement

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19
Q

Most patients with AD-HIES develop what as a neonate

A

a neonatal papulopustular eruption, often during the first week of life, usually starts on face and slap.

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20
Q

Tx of Job

A

Bleach baths 3x per week or chlorhex

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21
Q

T/F anaphylaxis is rare and food allergies are not a major problem in Job syndrome

A

T

22
Q

Mechanism for mucocutaneous candidiasis in Job syndrome

A

STAT3 is important for TH17, therefore impaired IL17/22 signalling and high risk of CMC.

23
Q

Job syndrome - increased risk of reactivation of what

A

VZV and EBV as STAT3 is important for production of CD8 memory T cells

24
Q

T/F Antibody production is impaired in Job syndrome

A

Yes memory B cells, variable specific ab production

25
Q

Prognosis in Job

A

Increased risk of death from infection
Increased risk of malignancy esp NHL (JAAD)
Increased risk of MI due to coronary abnormalities

26
Q

What are the 5 types of hypomorphic RAG SCID

A

Omenn, early onset autoimmunity, immunodeficiency with granulomas, isolated Cd4 lymphoenia, CMV infection with gamma delta T cell expansion.

27
Q

Omenn Sydnrome

A

a type of hypomorphic RAG SCID
T+/- B- N+
develop erythroderma, lymphadenopathy, HSM, alopecia. Lack of B cells, elevated serum IgE
May be fatal despite HSCT

28
Q

T/F null mutations in RAG1 or 2 are responsible for 20% of cases of SCID

A

T

29
Q

What immunodeficiency is DFSP associated with?

A

SCID: Adenosine deaminae deficiency (AR)
ages 2-22
lacks storeroom appearance. CD34+, has COL1A1-PDGFB fusion gene.

30
Q

Ddx of SCID

A

HIV
Hyper IgE
Histocytosis

31
Q

Hereditary angioedema due to:

Inheritance and penetrance

A 
C1 esterase inhibitor deficiency 
C1INH gene (SERPING1) to chromosome 11 
2 variants type 1 85%, type 2 15% 
AD, incomplete inheritance
32
Q

Differences between 3 types of hereditary angioedema

A

Type 1: 85%: C1 esterase inhibitor is

33
Q

Key features of hereditary angioedema

A

Skin: angioedema without urticaria, pruritus or pitting
Transient reticulated macular erythema
progressive presentation lasting from a few hours to 2-3 days
ENT: laryngeal oedema with secondary airway obstruction
GIT: mucosal oedema with secondary abdominal pain, vomiting, dysphagia

34
Q

When does hereditary angioedema appear?

A

Early Childhood

35
Q

Ix of hereditary angioedema

A 
C4 - C4 decreased during attacks 
C1q, C1 and C3 normal
CH50 may be decreased during attack 
C1 esterase inhibitor - functional and quantitative assay
Factor XII mutation may be present
36
Q

Management of hereditary angioedema

A

Prophylaxis: danazol/stanazolol (stimulates production fo functional C1 esterase inhibitor) (monitor lipids, fbc, lfts, BP, Liver USS)
C1-INH concentrates if necessary

Tx
C1-INH concentrates

Screen family members
Hep A,B, influenza vaccines

Medialert

37
Q

Investigational differences between hereditary angioedema and acquired angioedema

A

AAE: low C1q
AAI due to autoantibody to prevent function, or marked use of normal C1 inhibitor, or factors formed by lymphoid tumours that destroy its activity.

38
Q

Ddx of hereditary angioedema

A 
Acquired angioedema
ACE I induced
Episodic angioedema with eosinophils
vibratory or pressure induced angioedema 
Urticaria
39
Q

Types of acquired angioedema with NO urticaria

A

Type 1 : Associated with immune disorders e.g. B cell lymphoproliferative
Type 2:autoantibody against C1-INH (can include MGUS)

40
Q

7 immunodeficiency syndromes with eczematous dermatitis in order from most likely with allergies and asthma

A 
DOCK8 deficiency
Nethertons
PGM3 (phophoglucomutase3) deficiency 
IPEX syndrome
WAS
Hyper IgE (job)
MST1 deficiency
41
Q

DOCK8 deficiency
Inheritance
Key features

A

AR
Elevated IgE, eosinophilia, eczema, recurrent sinopulmonary and staph infections
UNLIKE AD-HIES, also severe cutaneous VIRAL infections eg HSV, HPV, molluscum, VZV.
Impaired NK
Mucocutaneous candidiasis less common than hyper IgE
Increased risk of SCC

42
Q

DOCK8 deficiency vs JOB

A

DOCK8 cf JOB
DOCK 8 have more viral cutaneous infections, less mucocutaneous candidiasis
Increased risk of SCC
Increased allergies and asthma
In first few months of like AD distribution rash vs neonatal pustular eruption that progresses

43
Q

PGM3 deficiency
Inheritance
Key features

A

AD
Elevated IgE, multiple allergies, asthma, neurological problems.
Developmental delay, low IQ, ataxia, dysarthria, myoclonus, sensorineural hearing loss, EEG problems.

44
Q

SCID investigations

A

FBC - lymphopenia
CXR: cupping and flaring of costochondral junction in ADA deficiency subtype
Flow cytometry
Gene testing: IL2, adeonsine deaminase, JAK3

45
Q

Maternofetal GVHD when

A

50% of infants with SCID
maternal T cells represent >1% of peripheral blood leukocytes
50% clinically silent
33% Pw: cutaneous erythema and scale, morbilliform eruption, elevated transaminases, eosinophilia

46
Q

When to Ix

A 
>8 infections in 12 months
2 or more serious sinus infections or pneumonia in 1 year
2 or more months on Abs with little effect
failure to thrive
recurrent deep skin or organ abscesses
persistent superfiial candidiasis
opportunistic infection
complication with live vaccine
need IV abs
47
Q

If severe molluscsum : think of…

A

wiskott aldrich, CD40 ligant deficiency

48
Q

What problems are associated with atopic dermatitis?

A

WAS, IgA deficiency, IgM deficiency, ATT

49
Q

What problem associated with morbilliform eruption?

A

SCID and materno-fetal GVHD

50
Q

Petechiae seen in

A

WAS, fanconi’s anaemia, dyskeratosis congenita, schwachman’s syndrome, chediak-higashi

51
Q

Investigations to consider

A 
FBC, Lymphocyte subsets - low in SCID
low platelets in WAS
Film - abnormal leukocyte granules in Chediak-higashi
Flow: lack of T and/or B in SCID
IgM, A, G subclasses. 
Culture, IF, PCR
C3, C4, CH50/100
Neutrophil function tests e.g. CGD 
hair shaft: eg chediak-higashi, griscelli

Genodermatoses Melissa (7 decks)

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