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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

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
Prognosis in Job
Increased risk of death from infection Increased risk of malignancy esp NHL (JAAD) Increased risk of MI due to coronary abnormalities
26
What are the 5 types of hypomorphic RAG SCID
Omenn, early onset autoimmunity, immunodeficiency with granulomas, isolated Cd4 lymphoenia, CMV infection with gamma delta T cell expansion.
27
Omenn Sydnrome
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
T/F null mutations in RAG1 or 2 are responsible for 20% of cases of SCID
T
29
What immunodeficiency is DFSP associated with?
SCID: Adenosine deaminae deficiency (AR) ages 2-22 lacks storeroom appearance. CD34+, has COL1A1-PDGFB fusion gene.
30
Ddx of SCID
HIV Hyper IgE Histocytosis
31
Hereditary angioedema due to: | Inheritance and penetrance
``` C1 esterase inhibitor deficiency C1INH gene (SERPING1) to chromosome 11 2 variants type 1 85%, type 2 15% AD, incomplete inheritance ```
32
Differences between 3 types of hereditary angioedema
Type 1: 85%: C1 esterase inhibitor is
33
Key features of hereditary angioedema
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
When does hereditary angioedema appear?
Early Childhood
35
Ix of hereditary angioedema
``` 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
Management of hereditary angioedema
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
Investigational differences between hereditary angioedema and acquired angioedema
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
Ddx of hereditary angioedema
``` Acquired angioedema ACE I induced Episodic angioedema with eosinophils vibratory or pressure induced angioedema Urticaria ```
39
Types of acquired angioedema with NO urticaria
Type 1 : Associated with immune disorders e.g. B cell lymphoproliferative Type 2:autoantibody against C1-INH (can include MGUS)
40
7 immunodeficiency syndromes with eczematous dermatitis in order from most likely with allergies and asthma
``` DOCK8 deficiency Nethertons PGM3 (phophoglucomutase3) deficiency IPEX syndrome WAS Hyper IgE (job) MST1 deficiency ```
41
DOCK8 deficiency Inheritance Key features
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
DOCK8 deficiency vs JOB
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
PGM3 deficiency Inheritance Key features
AD Elevated IgE, multiple allergies, asthma, neurological problems. Developmental delay, low IQ, ataxia, dysarthria, myoclonus, sensorineural hearing loss, EEG problems.
44
SCID investigations
FBC - lymphopenia CXR: cupping and flaring of costochondral junction in ADA deficiency subtype Flow cytometry Gene testing: IL2, adeonsine deaminase, JAK3
45
Maternofetal GVHD when
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
When to Ix
``` >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
If severe molluscsum : think of...
wiskott aldrich, CD40 ligant deficiency
48
What problems are associated with atopic dermatitis?
WAS, IgA deficiency, IgM deficiency, ATT
49
What problem associated with morbilliform eruption?
SCID and materno-fetal GVHD
50
Petechiae seen in
WAS, fanconi's anaemia, dyskeratosis congenita, schwachman's syndrome, chediak-higashi
51
Investigations to consider
``` 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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