More TOMMY concepts

[IMG SURVIVOR]

Back to Biochem and Immuno…(This too was on MY test, seriously, "almost" EXACTLY …)

q) (Naturally, I am rewording the concept so as to not violate NBME policy…) Listen, you open the door to the clinic and see a 10-month-old girl named Kim Bassinger who is a regular office visit fixture. Since a neonate, she has had failure to thrive, manifesting as decreased weight, height, and head circumference. She has constant dehydration from chronic diarrhea. Some eczema is seen, a few episodes of Pneumocystis Carinii Pneumonia were recorded. Many episodes of fever with sepsis, fungal infections, herpes type I eruptions were also noted. This situation is obviously VERY serious and not at all normal. Labs show BOTH T and B cell lines very very low. An plain film shows a normal thyroid and thymus. The mother, a nice lady named Alec Baldwin, reported she is a virgin and NEVER had any type of sexual relations (she was artificially implanted with a fertilized egg). A double check of tests showed no STDs. An infectious disease attending wanders by and says this is a serious problem regarding the purine salvage pathway. What is the Disease? (Again, this exact thinga was ona mya testa.)

1-X-linked Bruton agammaglobulinemia
2-Adenosine deaminase deficiency
3-Common colds, advise mother to keep child away from sick contacts
4-DiGeorge Syndrome
5-JAK 3 deficiency
6-HIV infection

[md90]

Originally Posted by IMG SURVIVOR

Back to Biochem and Immuno…(This too was on MY test, seriously, "almost" EXACTLY …)

q) (Naturally, I am rewording the concept so as to not violate NBME policy…) Listen, you open the door to the clinic and see a 10-month-old girl named Kim Bassinger who is a regular office visit fixture. Since a neonate, she has had failure to thrive, manifesting as decreased weight, height, and head circumference. She has constant dehydration from chronic diarrhea. Some eczema is seen, a few episodes of Pneumocystis Carinii Pneumonia were recorded. Many episodes of fever with sepsis, fungal infections, herpes type I eruptions were also noted. This situation is obviously VERY serious and not at all normal. Labs show BOTH T and B cell lines very very low. An plain film shows a normal thyroid and thymus. The mother, a nice lady named Alec Baldwin, reported she is a virgin and NEVER had any type of sexual relations (she was artificially implanted with a fertilized egg). A double check of tests showed no STDs. An infectious disease attending wanders by and says this is a serious problem regarding the purine salvage pathway. What is the Disease? (Again, this exact thinga was ona mya testa.)

1-X-linked Bruton agammaglobulinemia
2-Adenosine deaminase deficiency
3-Common colds, advise mother to keep child away from sick contacts
4-DiGeorge Syndrome
5-JAK 3 deficiency
6-HIV infection

The key is that you have to know the diseases that arise from purine salvage pathway.. and there are two: Lesch-Nylan and Adenosine deaminase deficiency (Lesch-Nylan is not listed, so it is the other).. the answer is B) Adenosine deaminase deficiency...

The other answers:
X-linked Bruton agammaglobulinemia ONLY affects B-cells usually... not both T- and B- cells;

common colds would not have ALL of these symptoms and starting as a neonate

DiGeorge Syndrome would NOT have a normal thymus..

JAK 3 deficiency.. I don't know...

HIV infection.. the mother did not have sexual encounter..; she was implanted (very rare for it to be a bad egg or something to do laboratory procedures)... that's potential for liable for malpractice AND no hospital, clinic,... wants that...

[angielb13]

Adenosine Deaminase deficiency in part of patients with SCID syndrome