A 3 month old Amish female was brought to your clinic by her parents. In the last 3 months of her life, she has had four bouts of urinary tract infections and three bouts of oral candidiasis. She is not gaining weight as she should. Her maternal uncle died in his infancy due to similar sickness. After examining the baby and running some tests, you diagnosed her condition as Adenosine Deaminase Deficiency. On hearing about the diagnosed disease, her parents became sad and asked you about her prognosis. Which of the following advice would you give?
A 10-year-old boy presents with recurrent disseminated Mycobacterium avium infections. He previously had a severe reaction to BCG vaccination as an infant. Laboratory testing reveals low IFN-γ production, despite normal T and B lymphocyte counts. What is the most appropriate treatment option for long-term management of this condition?
A 7-year-old girl is brought to the clinic with fever and diarrhea following recurrent bouts of Salmonella bacteremia. Her medical history is significant for a persistent infection following BCG vaccination. Laboratory testing reveals normal lymphocyte counts and low IFN-γ levels after IL-12 stimulation. What is the primary immune mechanism that is defective in this patient?
A 5-year-old boy from a rural region presents with fever, weight loss, and a cough that has persisted for 3 months. His family history is significant for consanguinity, and he received a BCG vaccination at birth. On examination, he has cervical lymphadenopathy and hepatosplenomegaly. Chest X-ray shows hilar lymphadenopathy. Lab tests reveal normal T-cell and B-cell counts but low IFN-γ levels after IL-12 stimulation. Which of the following is the most likely diagnosis?
A 9-year-old child with recently diagnosed acute myeloid leukemia (AML) is in the maintenance phase of chemotherapy and is currently in remission. The child appears healthy during the clinic visit, with unremarkable vital signs and physical examination. The child is due for several routine vaccinations. Which of the following vaccines would be contraindicated in this patient due to their current treatment with chemotherapy?
A 25-year-old male with known selective IgA deficiency presents to the emergency department with dyspnea, hypotension, and generalized urticaria shortly after receiving a blood transfusion. Which of the following is the most likely cause of his reaction?
A 2-year-old boy with transient hypogammaglobulinemia of infancy (THI) is being evaluated in follow-up. His parents report a significant reduction in infections, and recent lab results show normal IgG levels for his age. Which of the following correctly explains why this condition resolves with time?
A 12-month-old girl is being evaluated for recurrent mild respiratory infections since she was 6 months old. Laboratory workup shows low serum IgG with normal IgA and IgM levels. Her B-cell and T-cell counts are normal, and her growth and development are on track. Her immunization records indicate normal vaccine responses. Which of the following would be the most appropriate next step in management?
Patient: 10-month-old male Presenting Complaint: Recurrent ear and respiratory infections over the past 4 months History of Present Illness: The child’s mother reports recurrent ear infections, sinus infections, and two episodes of bronchitis since the age of 6 months. The infections typically resolve with antibiotics, but they seem to recur every 3 to 4 weeks. He has not had any severe infections, hospitalizations, or weight loss. His appetite is good, and he is meeting developmental milestones. The mother denies any history of diarrhea, skin abscesses, or opportunistic infections. The child has no known allergies and is up to date on vaccinations. He recently had a mild cold with runny nose and cough, which resolved without complications. Past Medical History: • Full-term birth, no complications • No significant illnesses before 6 months of age Family History: • No family history of primary immunodeficiencies or recurrent infections Physical Examination: • Vital signs: Normal • Growth and development: Normal for age (weight and height in the 50th percentile) • ENT: Mild erythema of the right tympanic membrane (acute otitis media) • Chest: Clear to auscultation • Skin: No rashes or lesions Laboratory Investigations: • Serum IgG: Low for age (below the 10th percentile) • Serum IgA and IgM: Normal • B-cell and T-cell counts: Normal • Vaccine response: Adequate response to tetanus and pneumococcal vaccines • Complete blood count: Normal with no signs of neutropenia What is the most likely diagnosis?
24 year-old African-American woman comes to clinic with dyspnea on exertion and nonproductive cough. CXR shows diffuse interstitial infiltration with bilateral ill-defined hazy airspace opacities. CT scan of the lungs show bilateral patchy and ground-glass opacities and tree-in-bud nodular opacities. Laboratory results show normal levels of circulating B cells, very low serum levels of IgG and IgA and elevated levels of serum IgM levels. You diagnosed her pneumonia is due to pneumocystic jirovecii and started her on antibiotics. Her laboratory report should make you think of
