Immuno Flashcards
How Chronic granulomatous disease occurs?
Due to defect in NADPH oxidase no production of ROS result no respiratory burst in neutrophils
How to dx CGD?
Gene testing
How to manage Chronic granulomatous disease?
Pt should receive antimicrobial prophylaxis with TMP-SMX and itraconazole—lifelong
Pts with severe phenotype may benefit from IFN-ɣ injections
How Chédiak-Higashi syndrome occurs?
Defective microtubule due to mutate LYST gene result no phagosome-lysosome unfusion
Triad of Chédiak-Higashi syndrome
Progressive neurodegeneration with Lymphohistiocytosis
Albinism (partial) with recurrent pyogenic
Infections with peripheral Neuropathy
Dx findings of Chédiak-Higashi syndrome
Giant granules in granulocytes and platelets
Pancytopenia
Triad of Leukocyte adhesion deficiency
Late separation of umbilical cord
absent pus
Recurrent infections due to defective neutrophils
How Wiskott-Aldrich syndrome occur?
Mutated WAS gene result unorganized actin cytoskeleton result defective antigen presentation
Immunoglobulins status in Wiskott-Aldrich syndrome
Decrease to normal IgG, IgM
Increase IgE, IgA
How Hyper-IgM syndrome occurs?
due to defective CD40L on Th cells result no class switching defect
Immunoglobulins status in Hyper-IgM syndrome
Normal or increased IgM
Decreased IgG, IgA, IgE
How Ataxia-telangiectasia occurs ?
Unable to detect damage DNA as ATM gene is mutated
Important point of Ataxia-telangiectasia
Increase sensitivity to radiation (limit x-ray exposure)
Immune status in Ataxia telangiectasia
Increase AFP
Decrease all Immunoglobulins except IgM and IgD
Lymphopenia and cerebellar atrophy
How Severe combined immunodeficiency occurs?
defective IL-2R gamma chain (most common, X-linked recessive)
adenosine deaminase deficiency (autosomal recessive)
RAG mutation VDJ recombination defect
How to dx SCID?
Decrease T-cell receptor excision circles Germinal centers (lymph node biopsy), and T cells (flow cytometry)
Name the screening test for SCID
Absence of T cell receptor excision circles (circular DNA excreted by developing T cells in thymus)
How to dx X-linked (Bruton) agammaglobulinemia?
Decrease B cells as well as all immunoglobulin
Absent/scanty lymph nodes and tonsils (1° follicles and germinal centers absent)
Triad of Common Variable Immunodeficiency
Occurs due to B-cell not converted into plasma cells
Present during puberty and young adulthood (20-40yrs)
Recurrent Sxs of Respiratory tract and GIT esp diarrhoea
How Autosomal dominant hyper-IgE syndrome (Job syndrome) occurs?
Deficiency of Th17 cells due to STAT3 mutation result impaired recruitment of neutrophils to sites of infection
Triad of hyper-IgE syndrome (Job syndrome)
Cold (noninflamed) with staphylococcal Abscesses
retained Baby teeth with Coarse facies
Dermatologic problems (eczema) with bone Fractures from minor trauma
Name the organisms causing infection if Terminal complement deficiencies (C5–C9) occur
Increased susceptibility to recurrent Neisseria bacteremia
What are the Postsplenectomy findings?
Howell-Jolly bodies (nuclear remnants)
Target cells Thrombocytosis (loss of sequestration and removal)
Lymphocytosis (loss of sequestration)
Name the organisms cover by subunit vaccine
HBV (antigen = HBsAg) HPV (types 6, 11, 16, and 18) acellular pertussis (aP) Neisseria meningitidis (various strains), Streptococcus pneumoniae Haemophilus influenzae type b.
Name the organisms cover by Killed or inactivated vaccine
Hepatitis A
Typhoid (Vi polysaccharide, intramuscular), Rabies
Influenza
Polio (SalK)
How Hyperacute rejection presents?
Widespread thrombosis of graft vessels—-> ischemia and fibrinoid necrosis
How hyperacute rejection occurs?
Pre-existing recipient antibodies react to donor antigen (type II hypersensitivity reaction)
activate complement
How acute rejections occurs?
If humoral antibodies developed after transplantation
If Cellular—> CD8+ T cells and/or CD4+ T cells activated against donor MHCs (type IV hypersensitivity reaction)
how acute rejections presents ?
Vasculitis of graft vessels with dense interstitial lymphocytic infiltrate
Prevent/reverse with immunosuppressants
How chronic rejection occurs?
CD4+ T cells respond to recipient APCs presenting donor peptides, including allogeneic MHC
Both cellular and humoral components (type II and IV hypersensitivity reactions)
Important point
For patients who are immunocompromised, irradiate blood products prior to transfusion to prevent GVHD
MOA of MYCOPHENOLATE
reversible inhibitor of inosine monophosphate dehydrogenase (IMPDH), which is the ratelimiting enzyme in de novo purine synthesis
What is the main side effect of MYCOPHENOLATE?
bone marrow suppression.
MOA of AZATHIOPRINE
purine analog that is enzymatically converted to 6-mercaptopurine.
It acts primarily by inhibiting purine synthesis.
What is the side effect of AZATHIOPRINE?
The major toxicity of azathioprine is dose-related diarrhea, leukopenia, and hepatotoxicity.
MOA of TACROLIMUS and CYCLOSPORINE
inhibiting the transcription of interleukin-2 and several other cytokines, mainly the T-helper lymphocytes.
Side effects of tacrolimus
nephrotoxicity and hyperkalemia
does not cause hirsutism or gum hypertrophy
Side effects of CYCLOSPORINE
Nephrotoxicity and neurotoxicity
Gingival hypertrophy and hirsutism.
Hypertension ( CCB as a TOC)
Glucose intolerance
Important point
C1q levels are normal in hereditary angioedema and depressed in acquired forms,which Usually present much later in life.
C4 levels are depressed in all forms of angioedema.
How to dx Hereditary angioedema?
complement testing
Exaggerated cleavage of C4 by C1 complex causes depressed C4 levels
Low levels of C1 inhibitor protein Or C1 inhibitor function confirmed the dx.
Important point
C1 inhibitor concentrate; a bradykinin antagonist (e.g icatibant) Kallikrein inhibitor (ecallantide)
How MuCcune albright syndrome occurs?
Defect in the G-protein cAMP-kinase function in the affected tissue, thereby resulting in autonomous activity of that tissue
Triad of MuCcune albright syndrome
precocious puberty
pigmentation i.e. café au lait spots (large and irregular borders)
and multiple bone defects (polyostotic fibrous dysplasia)
How Kallman syndrome occur?
Failure of migration of fetal GnRH and olfactory neurons result low FSH and LH
Also loss of smell
Dysmorphic features of Prader Willi syndrome
Narrow forehead
Almond shaped eyes
Downturned mouth
Name the Complications occur due to Prader Willi syndrome
Sleep apnea
DM type 2
Gastric distension/rupture
Death by choking
How to dx Prader Willi syndrome?
Genetic testing is required to confirm diagnosis and begins with karyotype and methylation studies
Followed by fluorescence in-situ hybridization, and then microsatellite probes
At what age DUCHENE and becker muscular dystrophy occur?
DUCHENE:::. 2-3 years of age
Becker::: 5-15 years of age
Triad of Myotonic muscular dystrophy
Occur in 12-30 years of age
Facial weakness with dysphagia
Handgrip Myotonia
What are the complications of Myotonic muscular dystrophy?
Arrthymia
Cataract
Balding
Testicular atrophy/infertility
How to dx DUCHENE muscular dystrophy?
Dx is confirmed by genetic testing (gold standard)
biopsy shows muscle replacement by fat and fibrosis
and absent dystrophin on immunochemistry staining
Important point
Myopathic pattern on electromyography (myotonic pattern in myotonic muscular dystrophy)
Triad of CONGENITAL CONTRACTURAL ARACHNODACTLY
Due to mutation in fibrillin gene 2
Tall stature with arachnodactyly
multiple contractures involving large joints
Important point (very very important)
Unlike most cases of intussusception in children, which are ileo-colic, intussusceptions in HSP are more likely to be small-bowel or ileoileal
Ileo-colic intussusceptions can be treated with air or contrast enema, but ileo-ileal intussusceptions that do not reduce spontaneously often require surgical management
Screening test of dyslipidemia
universal screening for dyslipidemia is recommended at age 9-11 and at age 17-21, as lipid levels are relatively stable just prior to and after puberty.
What are the causes of ACUTE URINARY RETENTION IN ELDERLY MEN?
BPH or prostatic CA
neurogenic bladder or detrusor muscle inactivity
Important point
Spinal cord compression in lumbar region bowel/bladder incontinence (rather than retention)
Triad of Acute bacterial PROSTATITIS
Tender prostate with systemic symptoms
Pyuria with positive urine culture
SxS of lower urine tract like retention of urine, dysuria and pelvic pain
Triad of Chronic PROSTATITIS
Tender prostate without systemic symptoms
LUTS with pyuria
Due to Recurrent UTI
Triad of NON-INFLAMMATORY CHRONIC PROSTATITIS
LUTS without fever
Mild tender prostate
Negative Urine DR and culture
Triad of INFLAMMATORY CHRONIC PROSTATITIS
LUTS without fever
Mild tender prostate
Negative Urine DR and culture
D/f b/w NON-INFLAMMATORY CHRONIC PROSTATITIS AND INFLAMMATORY CHRONIC PROSTATITIS
-If Expressed prostatic secretions show a normal no. leukocytes and negative culture—-> non inflammatory
–if Expressed prostatic secretions show a WBC more than 10 WBCs/H PF and negative culture
Triad of Chronic pelvic pain syndrome
LUTS with pain on ejaculation
Hematospermia with negative culture
Pain at pelvic and reproductive areas
How to manage Chronic pelvic pain syndrome?
3As
Alpha blocker like tamsuloin
Abx like cipro
5Alpha reductase inhibitors finasteride
Triad of Testicular cancer
U/L painless testicular node
Radical orchiectomy and then biopsy
Firm ovoid mass on examination
How to dx Testicular cancer
Scrotal US
Tumor markers viz Alpha feto protein / Beta HCG
What are the risk factor of testicular cancer?
Family history
Cryptosporidium
Triad of steroid
Athlete with small testis
Low GnRH, LH and FSH/ normal testosterone
Aggression
Side effect of 5 alpha reductase Inhibitors
Decrease libido
Erectile dysfunction
Side effects of Phosphodiesterase Inhibitors
Low BP if taken with other anti-HTN
Painful erection
Blue discolouration of eye
Non-arteritic anterior ischemic optic neuropathy
How to t/m EPIDIDYMITIS?
If Occur due to STI and in less than 35 yrs——-> ceftriaxone and doxycycline
If Occur due to coliform and in more than 35 years——>Levofloxacin
How EPIDIDYMITIS presents?
U/L testicular pain
Epididymal pain
Dysuria and frequency
Important of Germ cell tumors
Non Seminoma Germ cells have increased B-HCG and alpha feto protein
Seminoma Germ cells have increased only B-HCG
Important point of Stromal testicular tumors
Leydig—>which produce Estrogen or testosterone
Steroli cell tumor which occasionally associated with increased estrogen
Important point of Germ cell Tumor
Leydig tumor doesn’t have elevated alpha feto.protein and b hcg
Triad of Testicular torsion
Tender erythematous swell scrotum
Absent cremasteric reflex
Horizontal testicular lie with elevated testis
How to DX Testicular torsion?
US doppler which shows no blood flow
How to manage testicular torsion?
Surgical detorsion and fixation with exploration of the C/L side
Or
Manual detorsion if surgery not available
What is the basic d/f b/w Testicular torsion and Epididymitis?
If elevation of testis decrease pain—> Epididymitis (+ve phren sign)
If elevation of testis doesn’t decrease pain —> Testicular torsion
Important point of Spermatogenesis
Cryptorchidism, Varicocele
Or Bath in hot tub, laptop computing cause infertility by increasing testicular temperature
Difference between Klinefelter syndrome and anabolic steroid
Both condition have gynecomastia
and low testicular size & volume
Anabolic steroid—> There will increase libido and no sparse of facial or body hair
Klinefelter—> Decrease libido and sparse facial or body hair
How to manage Acute bacterial prostatitis?
6 weeks TMP-SMX or Quinolones
Important point of Acute bacterial prostatitis
Avoid doing cystoscopy and Foley catheter as it will lead to rupture of prostate and septic shock
How Hereditary angioedema occur?
Due to C1 inhibitor deficiency or dysfunction leads to excessive bradykinin
Triad of Hereditary angioedema
Facial swelling with airway obstruction
No pruritis or urticaria
Colicky abdominal pain with vomiting
How to DX hereditary angioedema?
Low C4 level
Low C1 inhibitor protein or dysfunction
How Penile fracture occur?
Rupture of fibrous tunica albuginea that envelopes the corpus cavernosum
Seen in blunt trauma like erect penis during Intercourse
Triad of Penil fracture
Sudden onset pain with snapping sound
Hematoma of penis leads to swelling and ecchymosis
Sometime unable to pass urine which indicates injury to urethera
How to manage Penile fracture?
Dx clinically and need surgical repaired
If associated with uretheral injury Do Retrograde uretherography
What are the risk Factor of Male Breast cancer?
BRCA1/2
Condition increase Estrogen to androgen ratio—>klinefelter syndrome, Obesity, cirrhosis and marijuana use
How Male breast cancer present?
Sub areolar mass
Dumpling of skin and nipple
Induration and ulceration
How to dx and manage Male breast cancer?
Mammography and Bx
How to d/f Gynecomastia and breast cancer?
Gynecomastia::
Central located with respect to nipple
Indistinct margins with surrounding fat
Breast cancer::
Eccentric to nipple
Well define or spiculated margins
How to dx and Treat common variable immunodeficiency?
Dx::
* CBC = normal WBC count
- Quantitative Immunoglobulin panel like low All immunoglobulins esp IgG
- No use of flow cytometry
Tx::
- Treat the recurrent infection
- Immunoglobulin replacement therapy
- No response to vaccination
What are the chronic manifestation of Common variable immunodeficiency?
In lungs::
Sinusitis , pneumonia and otitis
Fibrosis and bronchiectasis
GIT::
Chronic diarrhoea and IBD like condition
Autoimmune::
RA and thyroid disease
Difference b/w True and Pseudogynecomastia
Pseudo—-> Occur in obese patient with excessive deposition of fat in the breast w/o “distinct margin”
Rx is weight loss only
True—->enlargement of glandular breast tissue with “Distinct margins” and tenderness
What are the typical features of Edward syndrome?
Face—>Hands—>thorax—->Abdomen—->Lower limb
Face shows small jaw with prominent occiput and low set Ears
Clenched hands with Overlapping fingers
Heart and Renal defects
Limited hip abduction and Rocker bottom feet
What are the typical features of Patau syndrome?
Face—>Hand–>thorax with abdomen—>lower limb
Face shows small eye with small head Or holoprosencephaly
Hands shows more than 5 fingers
Cardiac with Renal defects and Umbilical hernia / Omphalocele
Rocker bottom feet
