Severe combined immunodeficiency

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Severe combined immunodeficiency

NMBE hematoinmuno

NMBE hematoinmuno

Blood histology
Blood components
Erythropoietin
Blood groups and transfusions
Platelet plug formation (primary hemostasis)
Coagulation (secondary hemostasis)
Role of Vitamin K in coagulation
Clot retraction and fibrinolysis
Iron deficiency anemia
Beta-thalassemia
Alpha-thalassemia
Sideroblastic anemia
Anemia of chronic disease
Lead poisoning
Hemolytic disease of the newborn
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Autoimmune hemolytic anemia
Pyruvate kinase deficiency
Paroxysmal nocturnal hemoglobinuria
Sickle cell disease (NORD)
Hereditary spherocytosis
Aplastic anemia
Fanconi anemia
Megaloblastic anemia
Folate (Vitamin B9) deficiency
Vitamin B12 deficiency
Diamond-Blackfan anemia
Acute intermittent porphyria
Porphyria cutanea tarda
Hemophilia
Vitamin K deficiency
Bernard-Soulier syndrome
Glanzmann's thrombasthenia
Hemolytic-uremic syndrome
Immune thrombocytopenia
Thrombotic thrombocytopenic purpura
Von Willebrand disease
Disseminated intravascular coagulation
Heparin-induced thrombocytopenia
Antithrombin III deficiency
Factor V Leiden
Protein C deficiency
Protein S deficiency
Antiphospholipid syndrome
Hodgkin lymphoma
Non-Hodgkin lymphoma
Chronic leukemia
Acute leukemia
Myelodysplastic syndromes
Polycythemia vera (NORD)
Myelofibrosis (NORD)
Essential thrombocythemia (NORD)
Langerhans cell histiocytosis
Multiple myeloma
Microcytic anemia: Pathology review
Non-hemolytic normocytic anemia: Pathology review
Intrinsic hemolytic normocytic anemia: Pathology review
Extrinsic hemolytic normocytic anemia: Pathology review
Macrocytic anemia: Pathology review
Heme synthesis disorders: Pathology review
Coagulation disorders: Pathology review
Platelet disorders: Pathology review
Mixed platelet and coagulation disorders: Pathology review
Thrombosis syndromes (hypercoagulability): Pathology review
Lymphomas: Pathology review
Leukemias: Pathology review
Plasma cell disorders: Pathology review
Myeloproliferative disorders: Pathology review
Anticoagulants: Heparin
Anticoagulants: Warfarin
Anticoagulants: Direct factor inhibitors
Ribonucleotide reductase inhibitors
Topoisomerase inhibitors
Platinum containing medications
Anti-tumor antibiotics
Microtubule inhibitors
DNA alkylating medications
Monoclonal antibodies
Antimetabolites for cancer treatment
Thymus histology
Spleen histology
Lymph node histology
Cytokines
Innate immune system
Complement system
T-cell development
B-cell development
MHC class I and MHC class II molecules
T-cell activation
B-cell activation and differentiation
Antibody classes
Type I hypersensitivity
Type II hypersensitivity
Type III hypersensitivity
Type IV hypersensitivity
Graft-versus-host disease
X-linked agammaglobulinemia
Selective immunoglobulin A deficiency
Common variable immunodeficiency
IgG subclass deficiency
Hyperimmunoglobulin E syndrome
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
Mycobacterium tuberculosis (Tuberculosis)
Anemia: Clinical
ELISA (Enzyme-linked immunosorbent assay)
HIV and AIDS: Pathology review
HIV (AIDS)
Atopic dermatitis
Papulosquamous and inflammatory skin disorders: Pathology review
Bullous pemphigoid
Pemphigus vulgaris
Stevens-Johnson syndrome
Erythema multiforme
Antiplatelet medications
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

Flashcards

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USMLE® Step 1 questions

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High Yield Notes

3 pages

Flashcards

Severe combined immunodeficiency

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Questions

USMLE® Step 1 style questions USMLE

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An 18-month-old boy is brought to the emergency department for evaluation of shortness of breath and cough. Past medical history includes two episodes of pneumonia, oral thrush, chronic diarrhea and recurrent otitis media. His vaccinations are not up to date due to frequent illnesses. Family history is non-contributory. The patient is at the 2nd percentile for height and weight. Temperature is 38.7 C (101.7 F), pulse is 151/min, respirations are 36/min and blood pressure is 70/40 mmHg. Physical examination demonstrates white patches in the oral cavity and diffuse rales of the lungs bilaterally. Laboratory results are demonstrated below.

 
 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

2024

2023

2022

2021

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. 429

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.