Severe combined immunodeficiency: Difference between revisions
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==Classification== | ==Classification== | ||
Previous classification system for SCID was based upon the presence of molecular defects affecting T cell numbers and presence or absence of defects affecting B and/or NK cell numbers, and SCID syndromes were classified as T-B+NK+, T-B+NK-, T-B-NK+, or T-B-NK- regardless of the functional status of these cells, since genetic diagnosis was more difficult to establish meanwhile, the mutated genes responsible for the majority of patients with SCID are known and can be readily defined. Then, it is more acceptable to classify SCID based upon the particular molecular defect once it is detected, especially the genotype can affect treatment methods and mesuarments for post treatment complications. | |||
Beyond this phenotypic classification | |||
{| class="wikitable" | {| class="wikitable" | ||
| '''Type''' || '''Description''' | | '''Type''' || '''Description''' | ||
Revision as of 00:00, 31 August 2018
| Severe combined immunodeficiency | |
| ICD-10 | D81.0-D81.2 |
|---|---|
| ICD-9 | 279.2 |
| DiseasesDB | 11978 |
| eMedicine | med/2214 |
| MeSH | D016511 |
Template:Search infobox Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Mohsen Basiri M.D.
Overview
Historical Perspective
Classification
Previous classification system for SCID was based upon the presence of molecular defects affecting T cell numbers and presence or absence of defects affecting B and/or NK cell numbers, and SCID syndromes were classified as T-B+NK+, T-B+NK-, T-B-NK+, or T-B-NK- regardless of the functional status of these cells, since genetic diagnosis was more difficult to establish meanwhile, the mutated genes responsible for the majority of patients with SCID are known and can be readily defined. Then, it is more acceptable to classify SCID based upon the particular molecular defect once it is detected, especially the genotype can affect treatment methods and mesuarments for post treatment complications.
Beyond this phenotypic classification
| Type | Description |
| X-linked severe combined immunodeficiency | |
| Adenosine deaminase deficiency | |
| Omenn syndrome | |
| JAK3 | |
| Artemis/DCLRE1C |
Pathophysiology
Causes
Differentiating Severe combined immunodeficiency from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Natural History
Complications
Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
External links
- Learning About Severe Combined Immunodeficiency (SCID) NIH
- Buckley RH (2004). "Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution". Annu Rev Immunol. 22: 625–55. doi:10.1146/annurev.immunol.22.012703.104614. PMID 15032591.
- Chinen J, Puck JM (2004). "Successes and risks of gene therapy in primary immunodeficiencies". J Allergy Clin Immunol. 113 (4): 595–603, quiz 604. doi:10.1016/j.jaci.2004.01.765. PMID 15100660.
- Church AC (2002). "X-linked severe combined immunodeficiency". Hosp Med. 63 (11): 676–80. PMID 12474613.
- Gennery AR, Cant AJ (2001). "Diagnosis of severe combined immunodeficiency". J Clin Pathol. 54 (3): 191–5. doi:10.1136/jcp.54.3.191. PMID 11253129.
- Concept of gene therapy for SCID