Severe combined immunodeficiency - Revision history

Aidan: Text replacement - "== Clinical Presentation" to "== Clinical Manifestations"

2020-08-02T12:19:21Z

Text replacement - "== Clinical Presentation" to "== Clinical Manifestations"

← Older revision		Revision as of 12:19, 2 August 2020
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	* However, given that T-cells are required for B-cell function, all SCID patients are functionally B-cell deficient		* However, given that T-cells are required for B-cell function, all SCID patients are functionally B-cell deficient

	== Clinical ~~Presentation~~ ==		== Clinical Manifestations ==

	== Diagnosis ==		== Diagnosis ==

Aidan at 13:32, 11 May 2020

2020-05-11T13:32:39Z

← Older revision		Revision as of 13:32, 11 May 2020
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	* Many genetic abnormalities can lead to this condition, and may cause related defects in B and NK cell lines		* Many genetic abnormalities can lead to this condition, and may cause related defects in B and NK cell lines
	* However, given that T-cells are required for B-cell function, all SCID patients are functionally B-cell deficient		* However, given that T-cells are required for B-cell function, all SCID patients are functionally B-cell deficient

⚫	=== Definition ===
⚫	* T-cell count <300 cells/μL and no T-cell response to mitogens (<10% compared to controls)
⚫	* '''Hypomorphic SCID''' is less severe, with a normal number of T-cells, but with T-cell function <30% compare to controls

	== Clinical Presentation ==		== Clinical Presentation ==
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	== Diagnosis ==		== Diagnosis ==
	* Usually diagnosed at birth with newborn screen containing a TREC (T-cell receptor excision circles) assay		* Usually diagnosed at birth with newborn screen containing a TREC (T-cell receptor excision circles) assay
			* In adulthood, diagnosis is based on flow cytometry to T cell count, and T cell response to mitogens (see Definition, below)

		⚫	=== Definition ===
		⚫	* T-cell count <300 cells/μL and no T-cell response to mitogens (<10% compared to controls)
		⚫	* '''Hypomorphic SCID''' is less severe, with a normal number of T-cells, but with T-cell function <30% compare to controls

	== Management ==		== Management ==

Aidan: /* Epidemiology */

2020-05-10T13:56:13Z

Epidemiology

← Older revision		Revision as of 13:56, 10 May 2020
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	== Background ==		== Background ==
	=== Epidemiology ===		=== Epidemiology ===
	* Most common form of severe primary immunodeficiency		* Most common form of severe [[primary immunodeficiency]]

	=== Pathophysiology ===		=== Pathophysiology ===

Aidan: added management section

2020-05-10T13:54:25Z

added management section

← Older revision		Revision as of 13:54, 10 May 2020
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	== Diagnosis ==		== Diagnosis ==
	* Usually diagnosed at birth with newborn screen containing a TREC (T-cell receptor excision circles) assay		* Usually diagnosed at birth with newborn screen containing a TREC (T-cell receptor excision circles) assay

			== Management ==
			* Initially treated supportively with management of infections and replacement of immunoglomubins
			* Protective isolation in hospital with positive pressure rooms
			* Antibiotic and antifungal prophylaxis to reduce frequency and severity of infections
			** Commonly-used antibiotics include [[sulfisoxazole]], [[amoxicillin]], [[trimethoprim-sulfamethoxazole]], or [[azithromycin]]
			* Avoid live-attenuated vaccines, but can continue to give killed or subunit vaccines (though they may not mount much response)
			* Definitive treatment is [[hematopoietic stem cell transplantation]], ideally from HLA-identical sibling
			* Gene therapy is an area of active research

	== Prognosis ==		== Prognosis ==

Aidan: Created page with "== Background == === Epidemiology === * Most common form of severe primary immunodeficiency === Pathophysiology === * No or almost no T-cells, and any that exist do not work..."

2020-03-09T01:14:17Z

Created page with "== Background == === Epidemiology === * Most common form of severe primary immunodeficiency === Pathophysiology === * No or almost no T-cells, and any that exist do not work..."

New page

== Background ==
=== Epidemiology ===
* Most common form of severe primary immunodeficiency

=== Pathophysiology ===
* No or almost no T-cells, and any that exist do not work properly
* Many genetic abnormalities can lead to this condition, and may cause related defects in B and NK cell lines
* However, given that T-cells are required for B-cell function, all SCID patients are functionally B-cell deficient

=== Definition ===
* T-cell count <300 cells/μL and no T-cell response to mitogens (<10% compared to controls)
* '''Hypomorphic SCID''' is less severe, with a normal number of T-cells, but with T-cell function <30% compare to controls

== Clinical Presentation ==

== Diagnosis ==
* Usually diagnosed at birth with newborn screen containing a TREC (T-cell receptor excision circles) assay

== Prognosis ==
* Uniformly fatal in childhood unless treated

[[Category:Immunocompromised hosts]]