DIP Episode 173 - The Clutch Immunodeficiency Diseases Podcast (HY for all USMLE exams, especially 2CK)!

Okay, welcome. My name is Divine, I'm a resident. This is episode 173 of the Divine Intervention Podcasts. And this podcast I'm going to be calling this the Clutch Immunodeficiency Disease Podcast. This should be a short one, so let me just get right into it. So what if you get a question about a boy that has had like, you know, let's say this is like a three-year-old boy and they say over the last like two years, this kid has had like multiple episodes of like, like, like, Streptococonumonia and, you know, just a lot of GI infections with like, G.R.D. and whatnot. What are you thinking about? What's the primary thing you're thinking about? Well, I hope you're thinking about like, Bertons, Igama Global in Imiya, right? Remember this is actually in here, sitting like an excellent recessive fashion, right? So Bertons will be a question in a boy on your US Emily exams. That's one of those are how you think you want to keep at the back of your mind, right? And the thing is sometimes the MD may not even ask you just for the diagnosis. They may want you to know the cell type that's affected, right? Hopefully you remember that it's a problem with B cells, right? It's a problem with like antibody production, right? And it's essentially a problem with like, uh, humoral immunity. I'm just giving you the different terms you may see as answer choices on the US Emily exams, right? So Bertons, Igama Global in Imiya, sometimes it's known as the excellent Igama Global in Imiya.

And again, like I said, it's an irritated effect and affects B cells. And really the mutation that causes the disease, right? It's like a mutation in a gene that quotes for something called a Bertons tyrosine kinase. It's a mutation in a tyrosine kinase that essentially helps you with B cell differentiation. So the thing is when you have that mutation, you will have like very low level. So essentially like no B cells, like no like mature B cells, right? And these people effectively have no plasma cells and almost no antibodies, right? And again, like I said, X-linked, so it's going to be in voice on your exams, right? And the thing is usually these boys tend to have recurrent infections after the age of six months. Because the antibodies from mum, those IgG antibodies that cross the placenta, uh, kind of wear out after like a six-month period, that passive immunity kind of goes away, right? So these people tend to get like, you know, a lot of recurrent infections with like pyogenic, like encapsulated organisms, right? So like strep new more H-flow, my seramine, GDD's things of that nature, right? And some physical exam findings, you'd actually want to keep at the back of your mind with Bertons is this kids tend to have like poorly developed like tonsils. You have like a very like tiny spleen, right? Because again, essentially you don't have B cells around to prefer it. So you don't need these organs to get big.

So this people tend to have like tonsilla hypoplesia, splinic hypoplesia. And even not even have like lymphadenopathy, like they usually don't have lymphadenopathy on MBME. So that's a very unique feature. You want to keep at the back of your mind, right? And if you do like a peripheral smear, again, you will not find much in the way of B lymphocytes. And the immunoglobulin levels will be like profoundly low. And really the way you treat Bertons is, you know, you just give IVIG every month, like every 30 days. And uh, these patients, if you know, they get like these sinopomillary infections, typically on MBME exams, you know, you give them like a moxicillin that tends to help pretty well. And then all this like pulmonary care to help them clear up all those, uh, all that in, uh, clear up clear up those secretions from from the nasty infection that they have. So that's what I will say about Bertons. The thing is, Bertons has a close cousin that you see on MBME exams. But there's a close cousin called CIVAD. It kind of looks like Bertons, but it's not necessarily Bertons. It's probably not as severe as Bertons. Unlike Bertons that is in heritans, an ex-linked recessive fashion, there's a disease known as CIVAD, common variable immunodeficiency. It tends to be in heritans in an Orozomo fashion, right? So, usually it's like Orozomo recessive, right? But they all, they mean, there are many other mechanisms of inheritance.

So I will say that in general, the mechanism of inheritance is not something you may necessarily see on your USMLE exams. Uh, but you can basically, what I'm saying with that Orozomo inheritance is that essentially you can shop in men and women. So it's not just going to be a boy disorder on MBME exams like you have for Bertons, I got my global inemia. But really, it's also kind of like the same problem. These people have issues with like B.C.L.D. differentiation, right? So they will have like very low levels of immunoglobulins, like most immunoglobulins are low in these people as well. Sometimes there are some rare people that have CIVAD where all the immunoglobulins are low, right? But these people also have low levels of immunoglobulins. And the thing is, usually these people, they tend to get like, you know, like all these like respiratory and J infections. But it's very high yield to know that their infections tend to start in the second decade of life. So usually past the age of 10 on MBME exams versus Bertons where their symptoms begin at six months of life. So that's one key difference you want to keep in mind there. And the thing is people that have CIVAD on MBME exams, they tend to have like a lot of skin problems. And they also tend to get like an increased predominance of like, like an increased preponderance of autoimmune diseases, right?

And some of the classic things you may see in people that have like CIVAD on MBM Es, they may have like bronchiectasis, they may have like alopecia, they may have like polyadritis nodosa, they can have like Viriligo, they can have like pyodermal gangrenosum. These are just all like weird, like essentially if you see a person that has an immunodeficiency disease with like weird skin findings, one of the things you want to entertain is a is see it, right? And the thing is again, if you these people tend to have again very low levels of immunoglobulins, one way they may, one sneaky way your friends at the MBME try to slot it into an exam is they may tell you that a person gets a vaccine like a person gets like like some you know kind of some kind of like the numococcal vaccine and they then they for whatever reason they don't seem to they still keep getting like numococcal infections. And then you check and you notice that they actually like non-immium to strip me when you're like hmm, why is this person not generating antibodies to this infection? That may be a clone the MBME exams because when do people get many vaccines right? When they're kind of like teenagers right? So although you mean you should also get a lot of vaccines as a kid, but that's one sneaky way your friends at the MBME may want to they want to present it right?

So again, they have low levels of immunoglobulins, they may not be able to, they may not respond appropriately to vaccination so they may not generate antibodies right? And in general again, it may look a lot like uh Breton's eagamadlobulinemia right? But the thing is usually for people that have cVID, you'll actually find B cells on a peripheral smear. This is not something that obtains in like mature, you'll find like mature B's like you this is not something you're necessarily seeing in Breton's but you'll see B cells on a peripheral smear in a person that has a cVID right? And really the way you treat cVID is you know you give IVIG as well pretty much. And one thing you want to keep in mind is the one of the most common causes of death in people with cVID is actually lymphoma okay? So whenever these people have like you know like big big big lymphadenopathy, you just want to go ahead and biopsy that lymph node just to make sure that those people don't have lymphoma. And then the next major in you know the efficiency the sort of talk about what if they give you a question about a patient? Let's say this patient you know they are getting a blood transfusion and then they become profoundly hypoxic they start to have they have like intense tridur, intense whizin. What do you think this person has? Well I hope you're thinking about IG deficiency right? IG deficiency. Basically the problem with IG deficiency right?

I mean the classic presentation I'll talk about that in a second but the big big thing you want to keep at the back of your mind is that these people they essentially have like failure of differentiation of like your like the terminal like IG positive B cells right? In fact this is actually the most common primary immunodeficiency disease believe it or not right? And the thing is these people they may actually form because they have like this IG deficiency they may actually form antibodies against IG right? So it's those antibodies that they form against IG that can actually cause those anaphylactic reactions with blood transfusions right? And these people already tend to get because remember the IG is the gradient of the mucusa so these people tend to get like recurring respiratory infections, recurring GI infections and for whatever reason these people also tend to have like a very high prevalence of like food allergies and other like planes of like atopic disorders. So those are things your friends on the MBB may throw into an exam right? And again many of these people they may not have any you know significant symptoms until like later in life and then they will keep having like again recurring respiratory infections, recurring GI infections especially with G-RD and they may also get like anaphylactic reactions with blood transfusion right?

And the thing is typically right if you do like you do like immunoglobulin studies you notice that you know all their immunoglobulin levels are normal with the exception of IG the IG levels will be decreased and really the way you treat this is you know you treat their recurring you just essentially treat the infections that they have. Another thing you can do is you can maybe consider like just giving like replacing those immunoglobulins that they are missing. But they are to be honest with you they are really not going to test that on an MBB exam. I mean one thing you may also want to keep in mind is these people right you want to be careful when you're doing blood transfusions you want to like look or reduce the blood transfusions you're getting because you don't want those I Gs to you know being the serum because those IG if like if you give them IG they can have those anaphylactic reactions or they can then start making antibodies that can put them at high risk for anaphylactic reactions in the future. So those are again all big things you want to keep at the back of your mind with IG deficiency.

Now what if they give you a question about like a girl right and this girl you know she's been having like these like progressive like neurological impairments she has like problems walking so she's like losing losing motor milestones and they tell you that she has like telangetias in the eye and she has like you know like mild intellectual disability what are you thinking about here.

So this is actually a tax hitelangetia right a tax hitelangetia I remember right this is an autosomal recessive disease right so for the most part this can show up in a it can show up in both boys and girls on MBME exams right and typically the thing that happens right these people have like neurological impairment they have like mild intellectual disability they tend to have like recurrent infections with like bacterial viruses and fungi so it's almost like a Biannate cell problem in a sense they tend to have like cerebellate taxia right so they'll have like problems walking and then another classic finding is they'll have telangetias and they can have telangetias on the skin but they can also have telangetias in the eye okay those are all high-ealth things to know and if you're not a divine what is the pathophysiology the thing is these people they tend to have like a mutation in a gene known as ATM you know like an ATM machine so like they have like mutations in the ATM gene it's like around chromosome 11 and essentially that gene regulates like your cellular response to double stranded DNA brick age right so the problem with these people is because they have issues with responding to double stranded DNA bricks they tend to have like a lot of sensitivity to like ionizing radiation so these people probably shouldn't be getting x-rays or stain in the sun too much because again remember that the radiation of x-rays can cause those DNA bricks so these people tend to have like you know like inquiries of like cancers lucopinias right and the classic presentation is the child will have a taxia first okay these people have like a taxia first right so they'll have trouble walking they may say oh this person has a taxia let me administer the rumberg test I've talked about the rumberg test at Nazmi many podcasts so I'm just gonna keep going I talked about it in my in my neuro

podcast remember the rumberg test is a test of brosol column function right so the thing is these people tend to have a negative rumberg test in one of my future podcasts I'll talk about phrygix etaxia phrygix etaxia right those people also tend to have etaxia but their rumberg test actually tends to be positive I'll talk about the pathophysiology behind this in a different podcast but that's like a key thing you want to keep at the back of your mind because the thing is sometimes your friends at the mbme they will write a phrygix etaxia question to look like a lot like an etaxia telangetasia question although phrygix etaxia retains not to be associated with immunodeficiency problems but the thing is the mbme will try to push that intellectual disability like real hard so that you get them confused so remember people that have etaxia telangetasia they tend to have a negative rumberg sign people that have phrygix etaxia they tend to have a positive rumberg sign okay so people with etaxia telangetasia they have the etaxia first and then after they have that etaxia it shows up within the first you know first few months to years of life and then between the ages of three to six they begin to develop those telangetages on the skin and on the eye right and then after the telangetasia's develop they then start getting these recurrent signo-pominary infections right and really for the most part of these people have like very low levels of white blood cells very low levels of ij so I guess maybe one thing that can help you is here is people that have etaxia telangetasia they have low white a low white blood cell count and low ij levels versus people that have ij deficiency they'll have a normal white blood cell count with low ij levels okay that's the way you kind of like keep these two things are straight and the thing is really the only way you can treat etaxia telangetasia

is you know you can give them ivi ij you can give them antibiotics to treat their infections but these people they tend to get very nasty hematologic malignancies like Hodgkin's non-Hodgkin's lymphoma leukemias and that's what kills them these people tend to die pretty early in life so you know it's it's not a great disease to have that's just terrible terrible terrible and again remember I said etaxia shows up first telangetasia show up afterwards and then they begin to have the recurrent signo-pominary infections so just use the name of the disease etaxia telangetasia to help you remember what comes first and what comes second and then the next immunodeficiency I'll talk about is skid right so skid right so like the severe combined immunodeficiency the thing is it can arise for many different reasons right so typically they don't usually ask like the mechanism of inheritance because actually people that have a skid there's actually some causes of skid that associate with orzuma recessive inheritance there are some causes of skid that are associated with like excellent inheritance the thing is some key pathophysiologies you want to be able to lay down in your mind for purposes of the USM analysis one common cause of skid on the USML exams is an adenosine diaminase deficiency deficiency of adenosine diaminase I describe the mechanism behind that causing immunodeficiency with like hipoptosis of lymphocytes in in my biochemistry video so I'm gonna like let that go for now because again I want to be done with this podcast fairly quickly but basically deficiencies of adenosine diaminase and also if a person has has like a mutation in the interlooking two receptor like the gamma chain that is also associated on MDMA exams with the development of skid or severe combined immunodeficiency and again it's a combined immunodeficiency right so these people have problems with lik

e B cells and T cells so they will get recurrent bacterial infections viral infections fungal infections like there's no holds bar here with regards to the kinds of infections these people will get and one thing I'll just say is like there's this one principle I use a lot I know I've mentioned it in different podcasts but I'll just mention it here there's this principle I use a lot with immunodeficiency disorders that I found to be very helpful just look at the bulk pattern that these people have on exams and that will typically lead you in a nice direction as to what the likely answer is so if for example in the Q StM they're just giving a lot of like bacterial infections it's gonna be some kind of B cell problems some kind of humanoid immunity problems some kind of antibody problem right contrast that with a person that has recurrent like viral infections or like TB or nemosis disease giravetsy that should tip you off more towards like a T cell problem okay that's just a high your dichotomy you want to keep at the back of your mind on exams you know I don't know it just tends to help me a lot so like you know T cell problem a cell mediated immunity problem so again these people their B cells their T cells essentially don't work and these people start having like nasty nasty infections from birth this one is not like oh let's chill till you heat six months no no no no if you start having nasty infections from birth and again they will get recurrent infections with again all sorts of pathogens these people tend to get like abscesses everywhere like deep skin abscesses abscesses like liver abscesses like abscesses in many different organs right and really if you get some labs on these people they'll have like again super low white blood cells all immunoglobulin levels will be low right and one classic thing the medallion and MBME exam is that these people have an absent

phymiq shadow on a chest x ring okay absent phymiq shadow on a chest x ring think about skin but also think about the George syndrome right because again remember the George syndrome is a T cell defect with hypocalcemia as well right so these kids those kids will also have an absent phymiq shadow on a chest x ring and if they want to go all basic science on your step two ck or step three one thing they could also throw in is that people that have these disorders will have like hypoplesia of the paracortex of lymph nodes that's a very high-yield thing to keep at the back of your mind because remember the paracortex is the T cell area of a lymph node right and really the way you treat people that have scared right like many of these people die pretty quickly but you know you give them a ton of antibiotics you give them IVIG you do like a bonfire transplant and these people one unusual thing that many people seem for whatever bizarre reason to get around the u.s.m.l exams is that these people should not get any kind of live attain with if not they will get a life-threatening infection and die so you don't want that for these people right so vaccines like you know MMR yellow fever virus cellar rotavirus being healed in friends of vaccine not good ideas for these people okay not good ideas for these people that's a nice way they can integrate those two things on the u.s.m.l exams now what if they give you a question about a kid and it's a boy right and this boy you know has like ptk on the skin and they get some labs and they tell you that oh you know this person's bloodlick on is like 34,000 and this kid has like these patches on his skin like these examatoid lesions on the skin and again a lot of recurring infections what are you thinking about here well I would really hope you're thinking about Wiscotalgeic syndrome right Wiscotalgeic syndrome this one is very easy to

identify on the u.s.m.l exams so unfortunately they don't test it as commonly as I would like them to test it so that more people can obviously get more questions right on their tests but if it is in Wiscotalgeic syndrome right big things you want to remember it's inheriting an excellent excessive fashion right and the mutation is in a gene known as the wasp so w a s p the wasp gene okay and again it will be because it's excellent excessive inheritance it'll be in a boy on your exam right and the thing is you may see okay define why does this wasp gene defect cause any problems or here's the deal the thing is when you have a mutation in that wasp gene right you will essentially begin to have a lot of trouble with like the signaling cascade that leads to like the appropriate movement of like actin filaments right so that's what causes many of the like I mean that links into many other things that probably is not appropriate to discuss in a in a podcast that I'm trying to like hopefully keep to like a very short time frame maybe I'll talk about the pathophysiology in some future podcasts but basically these people the classic thing you mission on an mbm exam is you know they'll have like thrombocytopenia right so instead of putting thrombocytopenia they may use ptk they may say oh physical exam is notable for skin ptk i once you see ptk i on the skin in an mbm exam they essentially tell you that this person has some kind of thrombocytopenia business going on so you know thrombocytopenia and if you even do like a bonfire smell whatever you'll see that these people split let's like very tiny right so these people have thrombocytopenia they'll have eczema there is in the have eczema is that people that have with scorn orgish syndrome they actually tend to have very high levels of ige okay so these people tend to have like eczema and again they get like a lot of recurring i

nfections and then like I said again I said on the skin ptk i telling that they have thrombocytopenia eczema because they have very high levels of ige and if you if you really like you know look for the I guess maybe dig a little further into this these people also tend to have like a very high risk of like malignancy just in general people that have immunodeficiency diseases they tend to have very high risk of malignancy because remember your immune system helps you like deal with cancers right especially like your natural killer cells so if your immune system is not working all that great you can begin to really get into a lot of trouble with with with malignancies I mean like there's this whole thing with this what do they call this then pdl like anti pdl one whatever therapy right it's all based on person of your immune system to kill cancerous right so whenever you have an immunodeficiency disease your immune system is not appropriately spurs stop right so that can increase your risk of malignancy so really people that have this like with scorn orgish syndrome they have like very high risk of like autoimmune diseases very high risk of malignancies especially like leukemia and lymphomas and the thing is when you do some labs on these people like they'll have actually like you know like low to normal levels of like ige ige and they'll have high levels of ige and ige okay they'll have high levels of ige and ige again if you notice I'm talking about like specific immunoglobulin levels with these disorders these are clues that can lead you in one direction versus the other on the usml exams right and then if you do like you know like the really the way you really establish the diagnosis is you know you do like some kind of flow cytometry and that will help you like detect like low levels of like expression of the wasp of the wasp gene and really the way you treat this

is you know you give them antibiotics if they get sick you give like IVIG yeah there's there's really no great treatment for this really the only way you can cure this disorder is you do like a hematopoerica like stem cell transplant that's really the only thing that can help these kids now um the next immunodeficiency disease I guess I'll go ahead and talk about is like leukocyte adhesion deficiency right so this one uh essentially the thing that happens is you have neutrophils and these neutrophils they cannot like leave the circulation to get into tissues um I mean there are many types of leukocyte adhesion deficiency I wouldn't worry about the specific types but some key mutations you want to you know like identify is like they may tell you that oh like what's the pathophysiology behind the adiada adiada disease think about things like you know like mutations in like integrain in mutations and like cd 18 cd 18 is necessary for adhesion of your neutrophils to the endothelium or you may see like mbm questions that ask about like mutations in like e-selectin right or mutations in like silo-luis x these are just all things that can cause leukocyte adhesion deficiency and the thing is these people um the the classic presentation on mbm examses these people have like infections right and they would not really form paths but under theme you also see on mbm examses these people may have like delayed separation of the umbilical cord okay delayed separation of the umbilical cord and one thing that your friends on the USMD love to test is uh actually one very nifty way they present this on examses the person will have like on usual leukocyteosis but you have like no real signs of infection so you may see okay divine wise that true well think about it if we remember like a very big pool of your white blood cells actually just stick to the endothelium and just hang out there ri

ght but if you have mutations in i mean look notice the denim of the disease leukocyte adhesion deficiency if your leukocytes cannot adhere properly then the thing that will happen is that you'll begin to have essentially like those leukocytes like in a de-marginated they way they are just in the bloodstream so if you see a person that has a leukocyteosis and they have no signs of infection think about leukocyte adhesion deficiency or if they have an infection they have because remember right if you know if you get an infection you'll get like a leukocyteosis doesn't number response but these people get like a leukocyteosis that may be out of proportion to the kind of infection they have if you see that again you want to think about leukocyte adhesion deficiency and really the way you make the diagnosis is you know you can make the diagnosis with like uh with a flow cytometry again they'll never really test treatment on your in-bame exams but if they did one thing you can do is you can consider like a bone marrow transplant that may be that may be helpful in some selected patients especially in some specific types of leukocyte adhesion deficiency now what if they give you a question about a patient and if you think that this patient keeps having like a lot of like lymphadenopathy or this patient keeps having a lot of abscesses and whenever they biopsy those abscesses they always come back with like stuff for years what are you thinking about well this is CGD right this is CGD and again on mbim exam CGD will show up in a guy because it's in herithane and ex-linked recessive fashion okay so it's common in males and remember right it's a problem with neutrophils okay they'll try to trick on your exam to convince you that it's a problem with macrophages or a problem with B cells do not choose those on a test go with neutrophils okay so it's a problem with the oxidative br

east process in neutrophils okay so why do we have issues with CGD right so the thing is or maybe let me talk about the kind of talked about the classic presentation the thing that happens is that these people they have a mutation in an enzyme known as any deepage oxidase right so if I have a mutation in any deepage oxidase that can that would render like make it very difficult to deal with catalyst positive organisms and again there are many catalyst positive organisms stuff for us equal i-candidat as perjilus, clapsilla but the big one I feel like almost like 95% of usmlcgd questions go after is recurrent abscesses and lymphadenopathy with stuff for us that's like the classic pathonomonic presentation for for chronic agrenolomatosis disease and again these people get again a lot of like again stuff for us infections um they may have like granulomas that's why it's called chronic granulomas disease these people tend to have like a lot of granulomas in like their GI tracks in their GI tracks so they can have like an australia colitis like presentation believe it or not on nbimmy exams right so those are all like big things you want to keep at the back of your mind so now how do we make the diagnosis of a CGD so the thing is you know way back in the dark ages the diagnosis was established with a nitro blue tetrazolium test but the thing is your friends at the nbimmy realize that and everyone has essentially memorized that and also it's kind of like moving with the times essentially no human being these days does the nitro blue tetrazolium test so the thing that happens on the exam these days is there's this test called the dihydro or the mean test it's like the DHR123 test that's like the preferred test and it's kind of like the nitro blue tetrazolium test but it's just more advanced than it's much easier and it's much more sensitive so that's what you should be lookin

g for on nbimmy exams and really for the most part these people the way you treat CGD on nbimmy exams is you give interferon gamma okay you're giving interferon gamma that tends to like spurs off the immune system cells to fight infection more appropriately but that's about as much I think as I'll say about CGD and again excellent recessive inheritance so it's going to be in boys on your US Emily exams and then what if they give you a question about a patient that has that's like you know have a recurrent infections and has albinism what are you thinking about well I hope you're thinking about like Chidia Kagagashi disease right so Chidia Kagashi right this one can show up in both boys and girls on nbimmy exams because he's inherited in an otosomori recessive fashion right so these people tend to have like albinism or instead of seeing albinism on the test they mimic it a little harder and say that the person has like diffuse skin hypopic mentition and one thing you also want to remember is that this is a problem with neutrophils okay this is a problem with neutrophils and really the pathophysiologies kind of involves these there's these genes known as like the list is like the list gene so LYST like the list gene or you can see like the Chidia Chidia Kagashi syndrome one gene so like the CHS one gene right so you have mutations in those genes and essentially when you have those mutations you'll begin to have problems like making or storing like secretory granules so the thing is your neutrophils at dysfunctional because they don't because remember your neutrophils right when the way your neutrophils effectively work is the have oxydelibers going for them but the other thing they do is like the D granulite and when the D granulite there is a lot of stuff into the aceronides that is super toxic right so if you have problems with like making those those are secretory gr

anules or problems like storing those secretory granules then the person will be in trouble right so so when those neutrophils again cannot be granulite right you begin to you know get a lot of lot of infections and really for the most part Chidia Kigashi you know it tends to be fatal in childhood they are very few of these kids that live you know live to like an adult age and again classic presentation organism right they may have like all these like heat rashes and these kids that have this tend to have like blonde hair they tend to have like blue eyes so those are all like classic things you may see and the thing is these people they tend to have like very nasty intellectual disability and they also tend to get again a lot of like malignancies especially like leukemias and lymphomas right like almost like a lymphoprolypharative syndrome these people tend to get and that again kills you know kills them again there are many other things that kill a person on Chidia Kigashi but that's kind of like the classic presentation you want to remember and then one thing that can be a throwback from the US Emily step one exam that your friends at the NBA and you want to throw on a stetuistic exam is they may tell you that oh they don't prefer or smear and they notice giant granules in neutrophils okay essentially like if you see like giant granules in like any of your white blood cells on like you know like a blood smear or bone marrow biopsy are thingy you really don't want to think about especially in an albino kid with recurrent infections you really don't want to think about a Chidia Kigashi syndrome those are like the big big things they tend to throw they tend to throw on the US Emily exams and then to round this up I guess I can talk about the George syndrome this one the third and fourth foreign geopolitics do not develop right so these people have no thymus they have n

o paraphirates right so you can this thing can present in many ways on the US Emily exams right so these people you know they can have like seizures from like hypocalcemia like newborn with seizures from hypocalcemia or you make sure you're an EKG right you'll have like a prolonged QT interval from the hypocalcemia right and then you'll have again recurrent like viral and fungal infections because the AT cells don't work don't work very well and again remember it's the third and fourth foreign geopolitics that do not develop right and remember the mutation is in chromosome 22 right so and you can really make the diagnosis with like fish so like fluorescence inside to hybridization studies right and there's this catch 22 pneumonia you've probably heard about right so what does catch 22 stand for so the thing is these people they tend to have like you know like the c-stance for like cardiac issues right so they have like tetralogy of fallow they may have troncos arteriosus they may have VS Ds they may have transposition of the great vessels they instance for the abnormal faces right so they tend to have like you know facial defects and then the teeth for the thymica Eplasia right so they'll have an absent thymic shadow and a newborn chest x-ray and then the next the next letter C kind of stands actually for for cleft palate right these people tend to have cleft palate and then the heach stands for the hypo-parthioregism right because again the third and fourth foreign geopolitics do not develop so they don't have development of their parathetic lands for so they essentially have a hypo-parthioregism right and if I mean like I don't think they will ever produce on a USML exam but if they really wanted to like mess with your head there is a disease that looks an awful lot like de-George it's called like velo cardiophacial syndrome you know these people have like the cleft

palates they'll have the cardio problems they'll have the intellectual disability they'll have many of the same findings as de-George but they may not necessarily have the hypo-calcemia right like the hypo-parthioregism so that may be like a somewhat unique differentiating feature but really there are some studies that actually show that velo cardiophacial syndrome is actually kind of like an aspectrum like de-George as well so but that's about as much as I will say about a VCFS and I think I'll kind of leave it at that and then actually people that have de-George syndrome the most common cause of death actually ends up being like congenital heart disease not necessarily like you'll think that oh infections will be the most common cause of this actually not infections actually the second most common cause of death in people with de-George the most common cause is actually the congenital heart diseases that tend to be associated with with de-George syndrome and then one other thing I guess maybe I'll go ahead and throw in here is you know if they give you a question about a patient that has you know like terminal complement component deficiencies so like c5 to c9 I remember these people tend to have a recurrent infections with like nice cereal organisms you know you kind of want to make sure these people have like the meningococcal vaccine you know just to again kind of protect them and really like the shin organisms they also need vaccinations against those because those terminal complement components they also help you deal with encapsulated organisms right so again these are all high yield things you want to keep up you want to keep at the back of your mind so I'm gonna go ahead and stop here I think I've you know mostly talked about all the high yield immunodeficiency disease is your mission your test as I do at the end of every podcast I offer tutoring for a ton o

f exams step one step two ck step two cs step three um and then like the preclinical medical exams 30th shelf exams and then there are these things I call you assembly booster courses that I offer for again all three u.s.

Emily exams um like something where again if you are at the end of your dedicated period or you feel like okay I know most of the material well I want someone to put everything together for me let's use like clinical vignettes and like a rapid fire cure and a format to discuss like um like most no concepts high yields that you very likely see on your exam uh you know we uh reach out to me regarding that course and we can we can arrange for that it's ten hours for step two ck step three and twenty hours for step one and then if you're medicine resident also tutor for the medicine board exams the medicine training exam and if you're um you know like a first second or thirty a mid student also do this thing called longitudinal tutoring where tutoring for like your block exams your shelf exams but at the same time I tutor upcoming u.s.

Emily exam you have again um many of the people have done this with you being like wildly successful on test so if that's something you're interested in I feel free to reach out to me and then if you know your medicine and plan to residency so like an era's application or a cholesterol and a plan to med school so an uncaste application I do offer like one-on-one advice saying tutoring for these things um you know like rec letters personal statement edits and writing um editing applications more in interviews and then finally if you you know have like a college body that needs tutoring for um general chemistry organic chemistry physics physiology biochemistry histology physiology I do offer tutoring for all those things so I wish all the best thank you for listening to this podcast and again like I said in like two podcasts ago uh these podcasts are now all available on like Apple podcasts Spotify and like uh Google podcasts I think is like Google Play music uh after all said and done so have a wonderful rest of your day I'm pretty excited for the mb season that's getting started soon I'll see you next time have a good night and God bless you thank you

B cells (failure of terminal differentiation into plasma cells).

Bruton's symptoms start around 6 months (after maternal IgG wanes); CVID symptoms usually begin in the second decade of life (>10 years).

Ataxia Telangiectasia.

In CVID, mature B cells are often present on the peripheral smear; in Bruton's, they are absent.

Leukocyte Adhesion Deficiency (LAD).

Opportunistic infections from birth (due to profound T and B cell defects).

Mutation in BTK (Bruton's tyrosine kinase) gene.

Bruton's Agammaglobulinemia.

Cardiac defects (conotruncal anomalies), T-cell deficiency/Thymic hypoplasia, and Hypocalcemia/Hypoparathyroidism.

Wiskott-Aldrich Syndrome (WAS).

Impaired oxidative burst activity due to NADPH oxidase deficiency.

Chédiak-Higashi Syndrome (CHS).

Dihydrorhodamine (DHR) test.

Mutation in BTK (Bruton's tyrosine kinase) gene.

Bruton's Agammaglobulinemia.

Cardiac defects (conotruncal anomalies), T-cell deficiency/Thymic hypoplasia, and Hypocalcemia/Hypoparathyroidism.

Wiskott-Aldrich Syndrome (WAS).

Impaired oxidative burst activity due to NADPH oxidase deficiency.

Chédiak-Higashi Syndrome (CHS).

Dihydrorhodamine (DHR) test.