Abstract
The combined T and B cell immunodeficiencies are heterogenous disorders characterized by lack of T cell-mediated immunity associated with impaired B cell function.
Clinical manifestations are usually characterized by an early onset, diarrhea and infections by intracellular pathogens (especially to Pneumocystis jirovici), often associated with failure to thrive.
The major hallmark of Severe Combined Immuno Deficiency is a lymphopenia (SCID). However, the absence of lymphopenia does not exclude a combined immunodeficiency. Engraftment of maternal T cells is common in SCIDs, often without GVH features, and it can mask the lymphopenia. Hypomorphic mutations may also allow residual T cell development in Omenn Syndrome and different atypical forms of SCID.
Use of live vaccines and unirradiated blood products is contraindicated in SCID.
In some cases, extra-hematopoietic clinical manifestations (as microcephaly, cardiac malformation, myopathy, etc) suggest specific diagnosis.
Beside the SCIDs due to a defect in T-cell differentiation, the combined immunodeficiency group includes functional defects that may alter the T-cell activation, the proliferation of the T- and B- cells, and the cellular interactions.
Autoimmune manifestations are very common in atypical SCIDs, as well as in combined immunodeficiencies. In consequence, the early onset of severe autoimmune manifestations constitutes a warning feature and both disorders need to be ruled out.
Except the SCIDs for which the gene therapy is a promising treatment, hematopoietic stem cell transplantation is the curative treatment of choice for SCIDs and for the most of combined immunodeficiencies.
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Le Deist, F. et al. (2017). Combined T- and B-Cell Immunodeficiencies. In: Rezaei, N., Aghamohammadi, A., Notarangelo, L. (eds) Primary Immunodeficiency Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-52909-6_2
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