Immunology Flashcards
What is the triad for ataxia telangiectasia
- Telangiactasia - not present at birth
- progressive ataxia - wheelchair bound as teen
- B and T cell def
What are Dx criteria for AT
low Ig A and IgG2
elevated AFP
Def = sequecing the ATM gene
CP of familial Mediterranean fever
typical acute episode lasts 1-4 days;
fever and 1 or more symptoms of sterile peritonitis, manifested as abdominal pain (90%), arthritis or arthralgia (85%), or pleuritis manifested by chest pain (20%).
Other serosal tissues, such as the pericardium and tunica vaginalis testis (acute scrotum), are rarely affected.
Erysipelas-like rash, myalgia, splenomegaly, scrotal involvement in boys, neurologic involvement, Henoch-Schönlein purpura, and hypothyroidism are other, less common clinical manifestations.
what are the 2 types of CMPA
Ig E mediated:urticaria, angioedema, resp, GI features
non IgE - GI issues
who should not have soy formula?
prems
congenital hypothyroidism - ? inbiits thyroid peroxidase
what formula is recommended for CMPA
hydrolysed protein
not soy, hard to diff Ig E med vs not, non IgE medated high allergy to soy too
what might be the issues if child has recurrent sinopulmonary infections with encapsulated organisms?
antibody mediated immunity issues - they evade phagocytosis
what are encapsulated organisms
SHINE SKis Strep pneumo H. Influenza Neisseria meningitis E. Coli
Salmonella
Klebsiella
GAS
FTT, diarrhea, malabsorption, and fungal infection - where is the issue
T cell immunodef
eczema, petechia, easy bruising, bleeding disorder?
Wiskott-Aldrich syndrome
what is the immunologic defect of SCID
NO T cell +/- B cells
how does agammablobulinemia present
No B cells No lymphoid tissue get encapsulated bacteria infections usually ok with Viruses except entero present at 4-6 month when mat immunity i s gone No live vaccines!
what are the most common B-cell diseases
X linked agammaglobulinemia
common variable immunodef
Hyper igM
Ig A def
what are features of common variable immunodef?
initially normal
gradual decrease in Ig
GI - malabsorption, diarrhoea, splenomegaly - Looks like IBD
ID - recurrent resp infect
AI - low plt, hemolytic anemia, neutropenia
liver dysfunction
High risk of LYMPHOMA - 400x inc
What are clinical features of IgA def
Can only Dx after 4 yr when level at adult level
recurrent sino-pulm infection
food allergies
AI disease
celiac disease
can become CVID
TRANSFUSION RISK - need IiA A poor blood bc might have some of their own
What are clinical features of SCID
severe infection - viral, bacterial, fungal, protozoa FTT chronic diarrhea Severe eczema could present with a GVHD
what lab results would make you worry about SCID
lymphopenia
what are important management
No blood transfusion - need CMV-, irradiated
No live vaccines
when should you worry about a primary immunodeficiency?
presence of 1-2 should raise suspicion: >=4 new AOM per year >= 2 sinus infec per year >= 2 pneumonias in one year >= 2 MONTHS on Abx with little effect >= 2 deep seated infections recurrent abscesses persistent thrush need for IV Abx to clear and infection FTT Family HX of PID
if a child has no tonsils and no LN, what should you think off?
agammaglobulinemia
SCID
NO lymphatic tissue anywhere
if someone is doing a nitroblue tetrazolium test or a neutrophil oxidative burst suppression test, what are they looking for?
chronic granulomatous disease
what test would you do to confirm a complement def?
CH 50 - classical pathway
AH 50- alternative
C3 and C4
what common PID had NO Ig?
XLA
a pt with XLA is at risk of what type of infections?
ENCAPSULATED! ENTEROVIRUS sinopulmonary GI sepsis meningitis
how do we manage a pt with XLA
IV IG monthly
monitor trough IgG
regular PFT
NO live vaccine
what PID has lymphatic tissue but does not make enough IG
CVID
what lab findings would you expect with CVID
“NORMAL” amount of B cells on flow cytometry
Low Ig G but does not work well
Low/N - Ig A and M
Low or NO Ab to vaccines
what PID has high risk of developing autoimmune issues?
CVID
20-25 %
what PID has high risk of malignancy
CVID
High risk for lymphoma
and gastric malignancies
what are the most common features of SCID
Infections of all types no lymphoid tissue no thymus oral thrush chronic diarrhea = FTT severe eczema
if you think a patient has SCID, what on initial investigations will help confirm your DDX
LOW lymphocytes
may have low Ig G and or IgM
how do we treat SCID?
Abx Iv Ig PJP prophylaxis avoid transfusion - can lead to GVHD - or CMV neg, irridiated Protective isolation NO live vaccine but killed are OK BONE MARROW TRANSPLANT!
what is the triad for Wiskott-Aldrich syndrome?
eczema
low Plt
recurrent pyogenic infections
what combined ID can present with bloody diarrhea and petechia?
WAS
what combinedID will have LOW Ig Mbut high Ig A and E
WAS
if a 2 year old presents with progressive ataxia and BW suggestive of lymphoma. Dx?
AT
what is the disease progression of AT
ataxia starts at 18 month
telangiectasia starts at 2-4 yrs
wheelchair by early teens
what is the mgnt of AT?
supportive only
no role for BMT
if have humural def - can do IV Ig
what are the clinical features of DiGeorge syndrome
Cardiac defect - interrupted aortic arch Abnormal facies Thymus hypoplasia Cleft palate - bifid uvula, high arch Hypocalcemia - parathyroid issue
what are the MC immune issues with DiGeorge syndrome?
Low T cell number and function but gets better over time
NO live vaccine until T cell number normal
if need transfusion - CMV neg, irr to avoid GVHD
what are 3 phagocytic defects?
CGD
hyper Ig E
LAD
what are 2 complement defects
Complement deficiencies
hereditary angioedema
if a patient presents with recurrent bacterial and fungal infections, what should you consider as Dx?
CGD
what bacteria are pt with CGD particularly at risk for?
catalase +,PLACES for CATS
Pseudomonas, Listeria, Aspergillus, Candida, E-coli, S. aureus, Serratia
what is the MC presentation of patient with CGD?
- Cat + bacterial infection or fungal
- abcesses and granulomas
- IBD like symptoms
what is the defect in CGD
defect in NADPH oxidase which is required to kill certain bugs
65 % X linked
rest is AR
how do we manage CGD?
antibacterial and antifungal prophylaxis
BMT**
patient presents with recurrent abscesses but they don’t seem to hurt or turn red. Dx
Hyper IgE syndrome
Neutrophils can’t get to the site of infection
therefore have COLD abscesses
what are CF of hyper IgE syndrome
coarse facial features delayed teeth shedding eczema cold boils bone fractures/scoliosis/jt hyperlaxity
if a baby has delayed cord separation, what investigation will help you make the Dx
a CBC with very HIGH Neutrophils
if Neutrophils normal - Not LAD
patient presents with recurrent episodes of swelling of the hands and feet, especially after stress. It is non painful. investigations and Dx
- C 1 esterase inhibitor def - AD
Dx- hereditary angioedema
how do you manage an attacke of hereditary angioedema
C1 esterase inhibitor infusion
Can use androgens for prophylaxis
what primary immonodef gets fungal infections
T cell defects: SCID, di george, AT, WAS
+ hyper Ig E
+ CGD
who will have no response to vaccines
CVID
who should not recieve live vaccines
Digeorge
SCID
Agammaglobulinemia
who will NOT benefit from a BMT
AT
