A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis

Abstract

The P-CID study for the first time characterizes a group of patients with nontypical SCID T-cell deficiencies from a therapeutic perspective. Because genetic and basic T-cell parameters provide limited guidance, prospective data from this study will be a helpful resource for guiding the difficult HSCT decisions in patients with P-CID.

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency

“…Other complications were also seen (Fig E1E). Similar to recent reports (21–77%) 5, 9 cytopenias occurred in 40% of patients; autoimmune hemolytic anemia (27%), immune thrombocytopenic purpura (20%), and autoimmune neutropenia in one patient.…”

“…9 Patients may survive into adulthood and our findings suggests that prevalence of such cases varies between 1%–1.9% in adult PID cohorts. Total and naïve CD4+ T cell lymphopenia, 4, 9 autoimmunity, and progressive inflammatory lung disease should all prompt further investigations for RAG deficiency in adult PID patients. The relative absence of RAG deficiency in the pediatric cohort of 216 patients suggest that milder forms of RAG deficiency may not be diagnosed as readily as a PID in childhood.…”

“…Both systems simulate the efficiency of protein expressed in patients in their ability to produce a diverse repertoire of TCR and BCR coding for immunoglobulins. As shown in Table E2 the mutations found in patients 12–14 have been tested by Lee et al 26 and show very similar levels of recombination activity for individual mutations. 16 Over half of the mutant proteins tested show almost complete loss of activity.…”

“…Organ-specific manifestations were the most common autoimmune complications affecting 73% of our adult cohort, similar to previously described reports with 48–77%. 1, 17 Gastrointestinal complications were the most prevalent organ specific manifestation followed by dermatological manifestations (Fig E1E). Granulomatous disease was seen in 40% of patients, with five out of six patients showing granuloma localization within interstitial lung tissue.…”

“…Organ-specific manifestations were most common (73%) and similar to previously described reports of 48–77%. 5, 9 Granulomatous disease was seen in 40% of patients, with five out of six patients showing granuloma localization within interstitial lung tissue. Other complications were also seen (Fig E1E).…”