study_ing
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we'll discuss big hints in the clinical cases
- 1. DELAYED separation of UMBILICAL CORD
- recurrent bacterial infections.
what do u think of?
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| w4c3
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Leukocyte adhesion deficiency will cause delayed separation of umbilical cord.
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| study_ing
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good 
remember the pt may have NECROTIZING periodontal infection.
his wbc counts and ig levels will be normal
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| study_ing
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recurrent bacterial infections.
NBT test positive
atopic eczema
thrombocytopenia
??
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| doc68
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WISKOTT ALDRICH SYNDROME?
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| study_ing
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great 
next one
partial albinism
giant lysosomes on WBC ( wright stain)
easy bruisabiltiy
recurrent respo, skin and oral infection
think?
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| docnikki
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Chediak higashi syndrome?
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| docnikki
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dear study_ing,
also wanted to add for delayed seperation of cord that apart from leukocyte adheshion defects it could also be a presence of a urachal cyst which can be detected by USG and should be surgically removed.
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| study_ing
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thanx and ur right 
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| study_ing
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recurrent fungal diaper rash
staph cervical furunculosis requiring multiple incisions and drainage in addition to antibitoics.
chronic diarrhea
perianal fistula
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| docnikki
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Chronic granulomatous diseases of childhood CGD.
Chronic Granulomatous Disease (CGD) is the name given to a group of inherited immunodeficiency diseases caused by faulty phagocytes. Normally, these large white blood cells engulf germs and destroy them. In CGD, phagocytes are unable to produce the oxygen-transporting compounds that they need in order to kill certain types of germs.
By their second birthday, most children with CGD will have infections that are unusually frequent or severe. The infections often respond poorly to standard antibiotics, and in some instances the child may need to be hospitalized for prolonged intravenous antibiotic treatment.
A commonplace bacterium such as Staphylococcus aureus or a usually harmless fungus such as Aspergillus may cause skin infections and rashes, liver abscesses, fever and persistent cough. Almost all the youngsters develop lung disease, including pneumonia. CGD can also cause chronic inflammatory conditions, including gum disease, inflammatory bowel disease, and enlarged lymph glands.
In addition, CGD causes tumor-like masses called granulomas. Granulomas are made up of clusters of white blood cells that continue to collect in infected areas even after the infection is gone. If large and in critical locations, granulomas can obstruct the passage of food through the digestive tract or the flow of urine.
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| study_ing
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basically there's gonna be one huge clue in the question..the NTB test. if its negative, the answer is CGD.
PPEERRFECCT!!! i think ill have to find a difficult one for u !!
Presents with recurrent "cold" (noninflamed) staphylococcal abscesses, eczema, coarse facies, retained primary teeth, and high levels of IgE.
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| docnikki
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Thanks study_ing.
Its Hyper IgE syndrome with recurrent infections.HIES or Jobs syndrome.
Vit C helpful for recurrent infection but not that much for eczema. Infants present with atopic dermatitis like illness..
The skin and soft tissue infections present as cellulitis, furunculosis, paronychia, suppurative adenitis and deep soft tissue 'cold' abscesses. Constitutional symptoms like fever may be absent or blunted.
Severe pulmonary infections caused by either S. aureus or H. influenzae are common. Empyema may complicate pneumonia and there is a high propensity for bronchiectasis and pneumatoceles.
Treatment involves giving appropriate antibiotics for specific infections Intravenous immunoglobulins usually provide temporary relief. Methotrexate is very effective in some cases
On vitamin C 500 mg daily, the recurrences of infection were less, but the eczema did not regress. Ascorbic acid has been reported to improve the chemotactic responsiveness of neutrophils from patients with recurrent infection and high IgE levels
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| study_ing
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u're too good..!!!! and quick at it too
VOW 
wud u like to help figure out an approach to immunodeficieny syndromes??
what do u look at first, what hints do u use?
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