Severe combined immunodeficiency
7,128views
Videos
Notes
Severe combined immunodeficiency
Immune system
General infections
Sepsis
Neonatal sepsis
Abscesses
Hypersensitivity reactions
Type I hypersensitivity
Food allergy
Anaphylaxis
Asthma
Type II hypersensitivity
Immune thrombocytopenic purpura
Autoimmune hemolytic anemia
Hemolytic disease of the newborn
Goodpasture syndrome
Rheumatic heart disease
Myasthenia gravis
Graves disease
Pemphigus vulgaris
Type III hypersensitivity
Serum sickness
Systemic lupus erythematosus
Poststreptococcal glomerulonephritis
Type IV hypersensitivity
Graft-versus-host disease
Contact dermatitis
Transplants
Transplant rejection
Graft-versus-host disease
Cytomegalovirus infection after transplant (NORD)
Post-transplant lymphoproliferative disorders (NORD)
Immunodeficiences
X-linked agammaglobulinemia
Selective immunoglobulin A deficiency
Common variable immunodeficiency
IgG subclass deficiency
Hyperimmunoglobulin E syndrome
Isolated primary immunoglobulin M deficiency
Thymic aplasia
DiGeorge syndrome
Severe combined immunodeficiency
Adenosine deaminase deficiency
Ataxia-telangiectasia
Hyper IgM syndrome
Wiskott-Aldrich syndrome
Leukocyte adhesion deficiency
Chediak-Higashi syndrome
Chronic granulomatous disease
Complement deficiency
Hereditary angioedema
Asplenia
Immune system organ disorders
Thymoma
Ruptured spleen
Immune system pathology review
Blood transfusion reactions and transplant rejection: Pathology review
Immunodeficiencies: T-cell and B-cell disorders: Pathology review
Immunodeficiencies: Combined T-cell and B-cell disorders: Pathology review
Immunodeficiencies: Phagocyte and complement dysfunction: 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?
Memory Anchors and Partner Content
External References
First Aid
2022
2021
2020
2019
2018
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
External Links
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.
Copyright © 2023 Elsevier, except certain content provided by third parties
Cookies are used by this site.
USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.
