Rare. Group of serious immune deficiencies that present with the combined absence of lymphocytes T and B functions. At least 12 different genetic causes have been identified:

-         deficiency in the γ chain common to 6 different cytokine receptors: 45%, X-linked transmission [MIM 300 400; 308 380] 

-   adenosine deaminase deficiency: 15% (see this term)

-   deficiency in α chain of the IL-7 receptor (ch 5): 11%

-   deficiency in Janus kinase 3 (gene JAK3 on ch 19): < 10%

-   deficiency in CD3 chains (11q23, 3 subtypes) 

-   CD45 deficiency 

-   RAG1 and RAG2 recombination activating gene deficiency (Ommen syndrome: see this term)

-   deficiency in artemis (DICS type athabascan, DICS alymphocytic type) [MIM 602 450] ( DCLRE1C gene on 10p13): with high sensitivity to ionizing radiation

-         deficiency in ligase 4

Clinical presentation: severe, early and recurrent infections: pneumonia, septicemia, meningitis, treatment-resistant fungal infections.

Diagnosis: number of lymphocytes and the proportion of lymphocytes T, B and NK: there are 4 major phenotypes (see table). Decreased lvels of all classes of immunoglogulines (IgG, IgM, IgA, IgE) when those of maternal origin have disappeared

Treatment:

-         as long as a waiting list for bone marrow or stem cells transplantation: isolation, no live attenuated vaccines, transfusion of irradiated and leucoreduced blood products

-         bone marrow transplantation from a HLA compatible donor 

Anesthetic implications: 

antibioprophylaxis and measures of strict asepsis; side effects of immunosuppression in case of hematopoietic transplantation

References : 

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Updated: March 2019