X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature

Table 4 Key characteristics of XLA and CVID

	XLA	CVID
Age of onset	usually by 9–18 months	usually 2nd – 4th decade
Family Hx of immunodeficiency	usually +ve	variable*
Inheritance	x-linked recessive	variable
Diagnosis
Lymph nodes/tonsils	absent tonsillar tissue	normal tonsillar tissue
CD19⁺ B cell numbers	markedly decreased/absent	normal/low
CD4⁺ T cell numbers	Normal	Variable**
CD8⁺ T cell numbers	Normal	Variable**
CD4⁺ CD8⁺ ratio	Variable	often decreased
Specific Antibody titers	absent	decreased/absent
Mutations reported	Btk	TACI, ICOS, BAFF-R, CD19⁺
Common Complications	Infections	Infections
	Allergy/Atopy	Allergy/Atopy
	CEMA, VAPP	-----
	Autoimmunity	Autoimmunity
	Malignancy	Malignancy
Treatment	IGIV	IGIV
	Symptomatic care	Symptomatic care***

*Some familial clustering has been described in the literature, possibly associated with Class II MHC gene complex
**CD4⁺ and CD8⁺ numbers may be low or normal
*** Symptomatic care includes antimicrobials, surgical drainage, nebulizer treatment for wheezing, allergy management, avoidance, nutrition, etc.
Abbreviations: TACI, Transmembrane activator and calcium-modulator and cyclophilin ligand interactor, Btk, Bruton's tyrosine kinase, ICOS, inducible costimulatory receptor, CEMA, chronic enteroviral meningoencephalitis, VAPP, vaccine-associated paralytic poliomyelitis, IGIV, intravenous immunoglobulin.

ISSN: 1476-7961