A 30-year-old woman presents with a history of recurrent, non-invasive infections affecting her skin, nails, and oral mucosa. Laboratory tests reveal a defect in T-cell function, while her B-cell function remains intact. Which of the following conditions is the most likely diagnosis?
A 6-year-old boy with a confirmed diagnosis of X-linked agammaglobulinemia has recurrent respiratory infections despite prophylactic antibiotics. What is the most appropriate long-term treatment to manage his condition?
A child with XLA has been managed with immunoglobulin replacement therapy but still experiences occasional infections. His parents are curious about other aspects of his immune function. Which of the following immune functions remains relatively intact in patients with X-linked Agammaglobulinemia?
A 2-year-old boy presents with recurrent bacterial infections including pneumonia and otitis media. His immunoglobulin levels are significantly low, and he has a family history of similar problems in male relatives. Genetic testing is being considered for a diagnosis. Which gene mutation is most commonly associated with X-linked Agammaglobulinemia (XLA)?
A 9-month-old boy is brought to the clinic due to recurrent ear infections, pneumonia, and sinus infections. He was born at term and was healthy until 6 months of age. On examination, he has no palpable lymph nodes or tonsils. Laboratory testing shows severely reduced levels of IgG, IgA, and IgM. What is the most likely diagnosis?
A 24 year-old Colombian male who was detained in the local immigration processing center was brought to your office by ICE officers for the evaluation of syphilis tests done as part of his immigration application. The RPR test and later FTA-ABS test came positive for syphilis. Through a translator, the patient explained that recently he got a fever, sore throat, wart-like lesions around his genitalia and rough, reddish brown spots on the bottom of his feet and on the palms of his hands. He also informed that many years ago, he received penicillin treatment for syphilis with no adverse complications. You diagnosed him with syphilis and started treatment with benzathine penicillin G. He was taken back to the detention center. Four hours later, the officers brought him back to your office because starting about two hours ago, the patient complained of fever as high as 107.6 F, chills, sweating, headache, nausea and vomiting, and muscle pains. His vital signs recorded were Temp = 102 F, BP = 110/80 mm Hg, RR = 24/minute, Pulse = 96/minute. Physical examination was unremarkable except for an anxious and distressful patient. Skin did not show any urticaria and wheels. Stat laboratory values showed elevated neutrophils but normal eosinophils. With rest, oral fluids, and acetaminophen, four hours later, the patient reported ‘I feel a lot better than when I came in’. His vital signs were Temp = 98.2 F, BP = 110/80 mmHg, RR = 18/minute; Pulse = 69/minute. Which of the following laboratory tests the clinician should rely on in establishing the diagnosis in this patient?
A 24 year-old Colombian male who was detained in the local immigration processing center was brought to your office by ICE officers for the evaluation of syphilis tests done as part of his immigration application. The RPR test and later FTA-ABS test came positive for syphilis. Through a translator, the patient explained that recently he got a fever, sore throat, wart-like lesions around his genitalia and rough, reddish brown spots on the bottom of his feet and on the palms of his hands. He also informed that many years ago, he received penicillin treatment for syphilis with no adverse complications. You diagnosed him with syphilis and started treatment with benzathine penicillin G. He was taken back to the detention center. Four hours later, the officers brought him back to your office because starting about two hours ago, the patient complained of fever as high as 107.6 F, chills, sweating, headache, nausea and vomiting, and muscle pains. His vital signs recorded were Temp = 102 F, BP = 110/80 mm Hg, RR = 24/minute, Pulse = 96/minute. Physical examination was unremarkable except for an anxious and distressful patient. Skin did not show any urticaria and wheels. Stat laboratory values showed elevated neutrophils but normal eosinophils. With rest, oral fluids, and acetaminophen, four hours later, the patient reported ‘I feel a lot better than when I came in’. His vital signs were Temp = 98.2 F, BP = 110/80 mmHg, RR = 18/minute; Pulse = 69/minute. Regarding this reaction which patient developed after starting the treatment, which of the following is true?
A 68 year-old female came to your office complaining of dry eyes, dry mouth, painful oral sores, nausea, vomiting, wheezing and vaginal dryness and irritation. She is especially sensitive to hot or spicy foods. Her urine looks dark brown colored and her stools look pale and clay-colored. She also developed a rash which is itchy and irritating. She used some hydrocortisone cream but it is not seeming to help her much. It is hard to open mouth and extend her elbows. Her past medical history is remarkable for aplastic anemia for which she received a matched, related allogeneic stem cell transplant from her brother approximately 10 months prior to this presentation. During the physical examination you noticed that her sclera looks yellow. There are several fluid-filled cysts on the inner surface of her mouth. You noticed grayish white lines on the palate. In the auscultation of her lungs, you noticed bilateral wheezing. She has abdominal tenderness in the right upper quadrant. As you were examining the range of motion, the patient put her palms together and had difficulty extending her elbows and fingers. There are deep pigmentation changes over her shoulders and back. She has a rash on her trunk which is made up of small, discolored dots covered with scaly patches. Her nails looked hard and brittle with some dystrophy. You noticed the loss of hair on her head. To investigate her condition further, you ordered some routine labs which are significant for the following values: Total serum bilirubin is 7.9 mg/dl Alanine aminotransferase (ALT) …….175 U/L Aspartate aminotransferase (AST)……..145 U/L and alkaline phosphatase of 440 U/L Antinuclear antibodies….Positive Rheumatoid factor………Positive What is the most likely diagnosis in this patient?
A 72 year-old male came to your urgent care clinic complaining of maculopapular skin rash, nausea, anorexia,jaundice, watery diarrhea, abdominal pain for the last one week. His medical history is significant for receiving an allogeneic hematopoietic cell transplantation four weeks ago for multiple myeloma. In the physical examination, you noticed blistery maculopapular rash all over his body, sparing the scalp. Laboratory results are remarkable for hyperbilirubinemia. You suspect graft-versus-host disorder in this patient. Which is the most common organ affected in patients with graft-versus-host disease?
A 72 year-old male came to your urgent care clinic complaining of maculopapular skin rash, nausea, anorexia,jaundice, watery diarrhea, abdominal pain for the last one week. His medical history is significant for receiving an allogeneic hematopoietic cell transplantation four weeks ago for multiple myeloma. In the physical examination, you noticed blistery maculopapular rash all over his body, sparing the scalp. Laboratory results are remarkable for hyperbilirubinemia. What is the most likely diagnosis in this patient?