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Which of the following immunodeficiencies most likely explains this familial history?
A 2-month-old boy dies of meningitis despite appropriate antibiotic therapy. Culture of his cerebrospinal fluid grows Mycobacterium tuberculosis. Two of his brothers died of atypical mycobacterial infections.



A. Complement deficiency
B. Interferon-y receptor deficiency
C. Leukocyte adhesion deficiency
D. X-linked agammaglobulinemia

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NBME 13 section 1 prt 1 of 2
Asked by Burton, Last updated: Jul 07, 2020

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3 Answers

R. Hunter

R. Hunter

Answered Jul 05, 2020

The correct answer to this question is B, Interferon-y receptor deficiency. The immune system is one of the most important systems in the body. It helps us fight off diseases and infections. Unfortunately, some people's bodies are never able to fight off these infections. When this occurs, it indicates that their body has some type of deficiency when it comes to being strong enough to fight against intruders.

If all of the children in the family died at a young age due to different infections, it would indicate that the family has some type of deficiency, which affects the immune system. This is most likely Interferon-y receptor deficiency.

 

Samantha Stewart

Love to do some charity work. Have a passion for writing and do it in my spare time

Samantha Stewart, Philanthropist, Post Graduate, Corpus Christi

Answered Jan 28, 2019

The immune system is an important system in the body. Its job is to fight infections. However, there may be times when someone’s immune system is not working properly. This probably means that their body can’t fight off infections, so that they now get sick very often.

However, there are different types of immunodeficiencies including the Humoral immune deficiency, T cell deficiency, Asplenia and Complement deficiency. If a small child dies from meningitis and he has two brothers who died of infections, then it can be said that his family most likely has immunodeficiencies because their children’s bodies could not fight off the infection even though they were taking the correct medications to fight it off. The main immunodeficiency would most likely be Interferon-y receptor deficiency.

 

John Smith

John Smith

Answered Sep 09, 2016

Interferon-y receptor deficiency-biology of the interferon gamma pathway host defense against pathogenic (m. tuberculosis, tb) and nontuberculous (atypical) mycobacteria (m. fortuitum, m. chelonae, m. abscessus, m. avium complex, m. kansasii, m. simiae and m. marinum), as well as salmonellae, depends heavily upon the functional integrity of mononuclear phagocytes and their interaction with t cells. interferon gamma (ifn-gamma), a pleiotropic th1-type cytokine, is a principal factor in the elimination of both tb and the nontuberculous group of mycobacteria (ntm). it is also essential in the control of certain bacterial, parasitic, and viral infections.macrophages infected with mycobacteria produce the cytokine interleukin 12 (il-12, which is a heterodimer of il-12 p40 plus il-12 p35). il-12 stimulates t cells and natural killer (nk) cells via its heterodimeric receptor (il-12rbeta1 plus il-12rbeta2). in response to stimulation with il-12, activated t cells and nk cells produce ifn-gamma. ifn-gamma binds to its receptor, ifn-gamma-r1, with high affinity, leading to receptor dimerization. this is followed by aggregation of two accessory chains (ifn-gammar2) with the receptor complex.transphosphorylation of jak1 and jak2, the janus kinases that are constitutively associated with ifn-gamma-r1 and ifn-gamma-r2 respectively, occurs next. the subsequent signaling event is the tyrosine phosphorylation of the latent cytosolic transcription factor stat1, which is followed by homodimerization and translocation to the nucleus as a complex.
 

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