Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations. Recombination-activating gene (RAG) 1 and 2 seem to be two of the most common forms presenting with various manifestations, including typical SCID, Omenn syndrome (OS), atypical SCID (AS), or delayed onset combined immunodefici...

BACKGROUND The core features of borderline personality disorder (BPD) are affective instability, unstable relationships and identity disturbance. Axis I comorbidities are frequent, in particular affective disorders. The concept of atypical depression is complex and often underestimated. The purpose of the study was to investigate the comorbidity of atypical depression in borderline patients reg...

We report an atypical case of complete DiGeorge (DG) anomaly that presented initially exclusively as severe combined immunodeficiency (SCID). The child had severe infections at diagnosis, in keeping with the SCID phenotype; however, normal lymphocyte counts and immunoglobulin levels were noted at admission, which delayed diagnosis. Importantly, the child presented without neonatal hypocalcemia ...

Severe combined immunodeficient (SCID) mice lack functional T and B cells. This renders them useful for implantation of human cells. The absence of immune cells, however, makes severe combined immunodeficient mice highly susceptible to infections and spontaneous development of malignancies; 2 of 114 CB17/Icr-Prkdc(scid) /IcrIcoCrl severe combined immunodeficient mice aged 9 and 10 months develo...

B cell-negative severe combined immunodeficiency (SCID) is caused by molecules involved in the variable (diversity) joining (V[D]J) recombination process. Four genes involved in the nonhomologous end joining pathway--Artemis, DNA-PKcs, DNA ligase 4, and Cernunnos--are involved in B cell-negative radiosensitive SCID. Deficiencies in DNA ligase 4 and the recently described Cernunnos gene result i...

Folate and vitamin B(12) metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with immunodeficiency. Here we describe the occurrence of severe combined immunodeficiency (SCID) with megaloblastic anemia, leukopenia, atypical hemolytic uremic syndrome, and neurologic abnormalities in which hydroxocobalamin and folate therapy provided pa...

ZAP70-related severe combined immunodeficiency (SCID) is a defect of the immune system characterized by absent or extremely low CD8+ T-cells and abnormal T-cell receptor signaling. This form of SCID is relatively rare with about 20 cases currently described in the literature and typically presents in infancy with recurrent opportunistic infections, failure to thrive, and gastrointestinal sympto...