Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
57 Cards in this Set
- Front
- Back
|
SCIDS is characterized by what 4 clinical manifestations? what cells are affected
when do we catch it |
1. recurrent infections
2. Diarrhea 3. Dermatitis 4. Failure to thrive **T B and sometimes NK most pts present bofore 3 mo with recurrent severe infections, thrush |
|
|
why do we want to catch SCIDS in kids early
|
so we can replace their bad cells with new ones
Bone Marrow transplant! |
|
|
why are SCIDS kids given BMT
|
fast stem cell reconsititution
|
|
|
what 2 fors of SCID can be tx with gene therapy?
|
1. X linked SCID
2. ADA adensodin deaminase |
|
|
ADA is tx how?
X linked SCID is tx how |
both are gene therapy
**other tx for kidds with SCIDS is BMT |
|
|
in early infance what characterizes SCIDS
|
1. Recurrent Failure to Thirve
2. infections: otitis media, diarrhea, candida, cytomegalovirus |
|
|
MHC class II deficiency in infants is characterized by what
|
1. chronic thrush
2. diarrhea 3. otitis media recurrent 4. BIG, failure to thrive is NOT seen |
|
|
whats the epidemiology of SCIDS
|
1/50-7500
|
|
|
what happens if SCIDS kids get a viral things
what viruses are common |
can be deadly
Caricells RSV Rotavirus parainfluenza CMV EBV enterovirus adenovirus |
|
|
what is the link btwn oral polio vaccine and SCIDS
|
vaccination with attenuated oral polio can cause infection and death
|
|
|
what are the 3 really common recurrent infectiosn seen in SCIDS
|
1. Otitis media
2. Diarhhea 3. Dermatitis **thse occur BEOFRE failure to thrive occurs |
|
|
we know that OM, Diarrhea, Dermatitic and FTT are common in scids. whats the time course
|
OM, diarrhea, dermatitis seen in 1st 3 mo
FTT is seen after |
|
|
in the hx be sure to ask...
|
relatives with SCIDS
unexplained infancy death, esp males Mom's exposure to HIV Peri adn Post natal infections |
|
|
with a SCID kid what do we see on physical exam
|
things you'd see if a kid had an infection:
1. fever 2. tachypnea 3. dehydraion 4. LACK OF TONSILS and LN |
|
|
if you have kids with lots of aggressive infections and what other finding on physical exam do you suspect SCIDS
|
a sick kid without LN/tonsils
|
|
|
is the skin affected with SCIDS
|
you bet
eczema dermitic candida in diaper Graft v host disease (cutaneous manifestation) |
|
|
what are the manifestations and associatid features of
Agammaglobulinemia |
Manifestations: recurrent infections, sinitus, pnemonia, meningitis
Associated Features: lymphoid hyperplasia |
|
|
what are the manifestations and associatid features of
common variable immuno deficiency |
Manifestations:
sinusitis brinchitis pnemonia chronic diarrhea Associated Features: AI disease RA SLE Graves ITP maliginancy |
|
|
what are the manifestations and associatid features of
IgA deficiency |
Manifestations:
Sinupulmonary infections Associated featerus: IgG subclass common variable immunodeficiency AI disease |
|
|
what are the manifestations and associatid features of
IgG subclass deficiency |
ManifestationsL Sinopulmonary infections
may be normal Associated Features: IgA deficeincy telangiectasia polysaccharide AB deficiency |
|
|
what are the manifestations and associatid features of
IgM deficiency |
1. ManifestationsL Variable, normal to recurrent sinopulmonary infections and meningitis
Associated Features: whipple disease regional enteritis lymphoid hyperplasia |
|
|
what are the manifestations and associatid features of
specific AB deficiency, IgA |
sinopulmonary infections
IgG subclass deficiency |
|
|
what are the manifestations and associatid features of
immunodeficiency |
Manifestations:
sinopulmonary infectiosn Associated featuresL AI and increased IgM |
|
|
what are the manifestations and associatid features of
Immunodeficiency with increased IgM |
Manifestations:
sinopulmonary infections opprotunistic infections Pnemonia jiroveci Associated Features: neutropenia liver disease cancer |
|
|
what are the manifestations and associatid features of
SCID (B+ and T- SCID) |
Manifestations:
candida diarrhea lots of infectiosn failure to thrive Associated Features: Graft V Host disease from maternal to fetal transfusion sevrere GVHD from nonirridated blood transfusion |
|
|
what are the manifestations and associatid features of
DiGeorge Anamoaly |
Manifestations: hypocalcemia
pyogenic infections partial or complete T cell desctuction Associated Features: congenital heart disease (arch deficits) micrognathia hypoparathyroidism hypertelorism |
|
|
what are the manifestations and associatid features of
SCID (T- B-) |
Manifestatiosn
Candida diarrhea infections FTT Associated Features: GVHD against blood ADA deficiency Chrondo-asseus dysplasia PNP deficiency neurologic disorders |
|
|
what are the manifestations and associatid features of
Omenn Syndrome |
Manifestations:
exfoliative erythroedemia candida, diarrhea, lots of infections, FTT lympathadenopathy hepatosplenomagaly Associated Features: Restricted TCR heterogeneity eosinophilla elevated IgE |
|
|
what are the manifestations and associatid features of
Reticular Dysgenesis (SCID B-T-) |
Manifestations:
Candida diarrhea lots of infections TFF Associated Features: agammaglobulinemia alymphocytosis agranulocytosis |
|
|
what are the manifestations and associatid features of
Bare Lymphocyte Syndrome (MHC I deficit) |
Manifestations:
sinopulmonary infections Associated Features: Decreased CD8 chronic lung inflammation |
|
|
what are the manifestations and associatid features of
bare Lymphocyte syndrome (MHC class II deficit) |
Manifestations:
infections in respiratory tract chronic diarrhea viral infections in CNS Associated Features: Decreased CD4 T cells AI disease |
|
|
what is another name for DiGeorge Syndrome?
what is it characterized by? whats the genetic component? |
velocardiofacial
No thymus: T cell immunodeficiency No parathyroid: hypocalcemia Heart Features Deletion of chromosome 21 or mutation in TBX1 gene |
|
|
what did that really red really bad looking baby have?
|
Omenn Syndrome
Neonatal Erythroderma Manifestations: Exfoliative Erythoderma candida, lots of infectison, diarrhea, TFF lympadenoapethy hepatosplenomegaly Associated Features: restricted TCR Heterogeneity eosinophillia Elevated IgE |
|
|
what are the manifestations and associatid features of
Wiskitt Aldrich Syndrome |
Manifestation:
thrombocytopenia atopic dermatitic recurrent infections Associated Features: polysaccharide AB deficeniy small platelets decreased CMI lyphyoproliforation |
|
|
what are the manifestations and associatid features of
Ataxia Telangiestasia |
Manifestations:
recurrent OM pnemonia memingitis with encapsulated organisms Associated Features: Neurological/endicrine disorders malignancy sensitive to radiation |
|
|
what are the manifestations and associated features of
Nijmegen Breakage Syndrome? |
Manifestations
sinopulmonary infectiosn bronchiectasis UTI Associated Features: sensitive to ionizing radiation microcephaly mild neurologic impairment malignancy |
|
|
what are the manifestations and associated features of
Cartilage Hair Hypoplasia short limbed dwarf |
Manifestations:
variable Associated Features: metaphyseal dysplasia short extremities |
|
|
what are the manifestations and associated features of
Chronic Mucocutaneous Candidiasis (APECED) |
ManifestationsL
Candidal infections of mucous membranes skin nails Associated Features: AI endocrinopathies |
|
|
what are the manifestations and associated features of
X linked lymphoproliforative syndrome |
Manifestations:
variable decrease in T B and NK Hypoagammaglobulinemia Associated Features: life threatening EBV infections lymphoma hodgkin disease lymphocistocystic disorder |
|
|
what are the manifestations and associated features of
Hyper IgE syndrome |
ManifestationsL skin and pulmonary abcesses,
fungal infectiosn eczema increased IgE Associated Features: Coarse facial hair failure to shed primary teeth frequent fractures |
|
|
what disease is characterized by: increased bleeding to low platelets, recurrent bacterial viral and fungal infections. and eczema
|
Wiskott Aldridch Syndroem
|
|
|
what do we do with pts with immuno deficiency in terms of blood transfusions nad vaccinations
|
Blood:
AVOID! must be irridated and cytomegalovirus negative if they are necessary Vaccine: NO live virus (avoid them in ppl in the household also) |
|
|
in T cell immunodeficiency adn X linked Hyper Igm what is done as general mgmt
|
prophylaxix to pnemocystsi jiroveci
|
|
|
for pts with immunodeficiency that leads to lots of respiratory disease what can we do as general mgmt
|
follow pulm performance
chest physiotherapy postural drainaige **also for pts with recurrent pnemonia |
|
|
shoudl we have kids with immunodeficiencies on prophylactic Antibiotics
|
yep, minor scrapes can become a big deal real fast
|
|
|
so we will have pts with immunodeficiencies on prophylactic antibiotics, can we do anyhting else
|
ya if its real bad we cab use immunoglobulins for severe AB deficiency
|
|
|
what is the most "duh" thing we can do for pts with immunodeficiency
|
kepp them away from sick ppl!
|
|
|
what is lymphopenia?
|
hallmark of SCID
**low lymphocyrtes **SCID can sometimes have normal or elevated lymphocyte counts |
|
|
do ALL SCID pts have lymphopenia
|
nope, some have increased or normal lymphocyte levels
|
|
|
what is the tx for SCIDS
|
maintain environment
mucosal hygeine stem cell reconstitution with BMT |
|
|
what do you do when a kid with SCIDS has a fever
|
wide range antibiotic IMMEDIATLY, maybe even hospitalized with IV antibiotics
**culture things and work this kid up! |
|
|
so if FTT is part of SCIDS what needs to be part of Tx
|
nutrition and gastroenterology
diarrhea and failure to thrive |
|
|
why do SCIDS kids sometimes get paraenteral or enteral ntn
|
they have all of that diarrhea nad failure to gain weight so they get feeding to ensure they are getting calories and vitamins
|
|
|
do we still put SCIDS kids in bubbles
|
nope, we just aviod crowds and hand wach like crazy
|
|
|
what kind of inpatient care do SCIDS kids get
|
immunology
gastroenterology infections disease pulmonology BMT team tertiary pediatric hospitals |
|
|
can SCIDS kids be brought to full health? how
|
yep
BMT, stem cell reconstitution best outcome for young kids who are nourished |
|
|
what kind of education is done for SCIDS families
|
1. handwashing/spread of infection
2. vaccines 3. gene therapy (x likned transmission) |
