Severe combined immunodeficiency
Videos
Notes
Severe combined immunodeficiency
Pathology
Hypersensitivity reactions
Anaphylaxis
Asthma
Food allergy
Type I hypersensitivity
Autoimmune hemolytic anemia
Goodpasture syndrome
Graves disease
Hemolytic disease of the newborn
Myasthenia gravis
Pemphigus vulgaris
Rheumatic heart disease
Type II hypersensitivity
Poststreptococcal glomerulonephritis
Serum sickness
Systemic lupus erythematosus
Type III hypersensitivity
Contact dermatitis
Graft-versus-host disease
Type IV hypersensitivity
Immunodeficiences
Asplenia
Common variable immunodeficiency
Hyperimmunoglobulin E syndrome
IgG subclass deficiency
Isolated primary immunoglobulin M deficiency
Selective immunoglobulin A deficiency
X-linked agammaglobulinemia
Adenosine deaminase deficiency
Ataxia-telangiectasia
Hyper IgM syndrome
Severe combined immunodeficiency
Wiskott-Aldrich syndrome
Complement deficiency
Hereditary angioedema
Cytomegalovirus infection after transplant (NORD)
Post-transplant lymphoproliferative disorders (NORD)
Chediak-Higashi syndrome
Chronic granulomatous disease
Leukocyte adhesion deficiency
Immune system pathology review
Blood transfusion reactions and transplant rejection: Pathology review
Immunodeficiencies: Combined T-cell and B-cell disorders: Pathology review
Immunodeficiencies: Phagocyte and complement dysfunction: Pathology review
Immunodeficiencies: T-cell and B-cell disorders: Pathology review
Assessments
Severe combined immunodeficiency
Flashcards
0 / 11 complete
USMLE® Step 1 questions
0 / 2 complete
High Yield Notes
3 pages
Flashcards
Severe combined immunodeficiency
of complete
Questions
USMLE® Step 1 style questions USMLE
of complete
| Complete blood count | |
| Leukocyte count | 8,100 /mm3 |
| Platelet count | 300,000/mm3 |
| Lymphocytes | 5% |
| CD 19+ | low |
| CD 3+ | absent |
| Immunoglobulins | |
| IgG | 220mg/dL |
| IgA | 40 mg/dL |
| IgM | 15 mg/dL |
Chest X-ray demonstrates bilateral diffuse interstitial infiltrates. Which of the following is the most likely diagnosis?
External References
First Aid
2022
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2017
2016
Autosomal recessive disorders
severe combined immunodeficiency p. 115
Bone marrow transplant
severe combined immunodeficiency p. 115
SCID (severe combined immunodeficiency disease) p. 96, 115
adenosine deaminase deficiency as cause p. 35
lymphopenia caused by p. 431
Summary
Severe combined immunodeficiency (SCID) is a severe form of primary immunodeficiency, caused by a genetic mutation that affects the development and function of white blood cells, which are responsible for fighting off infections. It may result from an X-linked recessive defect in IL-2R (interleukin-2 receptor) gamma chain or an autosomal recessive defect in adenosine deaminase deficiency. As a result, individuals with SCID are highly susceptible to infections, particularly bacterial and viral infections, and often present with failure to thrive, chronic diarrhea, thrush, and recurrent infections. Treatment involves HSCT (hematopoietic stem cell transplantation, avoiding live vaccines, antimicrobial prophylaxis, and isolation to prevent catching an infection.
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