This patient is a 6 month old male infant. He was referred to his physician beca

Question

This patient is a 6 month old male infant. He was referred to his physician because of his high number of recurrent infections with RSV and Candida albicans. Physical examination of the child revealed that he has wide set eyes, low ears and a surgically corrected cleft palate. A chest x-ray revealed that he does not have a thymus. A CBC revealed that the infant is anemic and has a profound decrease in lymphocytes. Despite documented infections with Candida albicans, antigen testing was negative. This is interpreted as a defect in T-cell function. Flow cytometry results demonstrate a decrease in circulating T-cell lymphs. This patient most likely has: which disease does this individual have? I think its SCID or Digeorge syndrome

Explanation / Answer

Which disease does this individual have? I think its SCID or Digeorge syndrome

Yes, the infant is suffering from Digeorge syndrome and SCID. Below are the characteristics of the disease:

DiGeorge Syndrome is an irregular advancement of the third and fourth pharyngeal pockets that causes a nonappearance of the thymus and parathyroid organs. Nonappearance of the thymus implies T-Cells can't develop and non attendance of the parathyroid organs cause low levels of parathyroid hormone. This innate hypoparathyroidism prompts low calcium levels and jerking/fits. The low levels of T-Cells prompts helplessness for viral and candida contaminations. The catchphrases here are truant thymic shadow on chest x-beam. DiGeorge Syndrome is likewise connected with Truncus Arteriosus and facial variations from the norm, for example, a congenital fissure and low set ears.

Severe Combined Immunodeficiency (SCID) is a T-Cell lack COMBINED with a B-Cell inadequacy. This can either be a deformity in the IL-2 receptor or brokenness the Adenosine Deaminase catalyst (adenosine develops and is harmful to B and T Cells). There is a missing thymic shadow on the chest x-beam like DiGeorge, low levels of T-Cells and low levels of immunoglobulin of all isotypes.

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