Published April 1, 2015 - More info
Recently, patient mutations that activate PI3K signaling have been linked to a primary antibody deficiency. Here, we used whole-exome sequencing and characterized the molecular defects in 4 patients from 3 unrelated families diagnosed with hypogammaglobulinemia and recurrent infections. We identified 2 different heterozygous splice site mutations that affect the same splice site in
Marie-Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suarez, Christine Bole-Feysot, Patrick Nitschke, Marina Cavazzana, Capucine Picard, Anne Durandy, Alain Fischer, Sven Kracker
Original citation: J Clin Invest. 2014;124(9):3923–3928. doi:10.1172/JCI75746.
Citation for this corrigendum: J Clin Invest. 2015;125(4):1764–1765. doi:10.1172/JCI81746.
The authors recently identified an error in the identification numbers assigned to patient samples that resulted in an incorrect clinical and immunological description of patient 4 (P4). The error did not affect the conclusions of the manuscript; however, the correct immunological profile is now included in the revised version of Table 1, which appears below.
Clinical and immunologic features
Corrected text for the clinical description is provided below:
Results and Discussion, 1st paragraph:
All 4 patients had been suffering from recurrent respiratory bacterial tract infections from soon after birth, although none of them was hospitalized to treat infections (Table 1 and Supplemental Figure 1; supplemental material available online with this article; doi:10.1172/JCI75746DS1). They had no signs of allergy, autoimmunity, splenomegaly, or lymphadenopathy (with the exception of patient 1 [P1], whose tonsils had been removed in 2 separate operations). Although viral infections and opportunistic bacterial or fungal infections were not reported, P2 and P4, but not P1, presented with EBV viremia, as detected by PCR (P2, 1,500 copies per ml; P4, 540 copies per ml; reference values, <182, respectively). P2 also presented with CMV viremia (CMV, 9,300 copies per ml; reference values, <446). Lymphocyte counts were in the normal range, but the frequency of CD31+CD45RA+ naive CD4 and CCR7+CD45RA+ naive CD8 peripheral blood T cells was low in all patients (Table 1). An elevated proportion of CD8 T cells expressing the senescence–associated marker CD57 was observed in the 3 infant patients (P1, P2, and P4). P1 displayed a memory B cell deficiency. All patients had elevated frequency of transitional B cells (Table 1). Impaired B cell function was suggested by the serum Ig profile: undetectable IgA levels in all patients; very low IgG levels in P1 and P2 (but elevated levels in P3); and elevated IgM levels in all 4 patients. All the patients but P3 were receiving Ig replacement therapy. The immunological phenotype of these patients was somewhat heterogeneous and reminiscent of that observed in APDS. The presence of dominant gain–of–function mutations of PIK3CD was ruled out for all 4 patients (data not shown). P2 presented with growth retardation (–2 SD for weight and –2.5 SD for height), without improvement after treatment with Ig replacement therapy. P4 also presented with slight growth retardation (–1.5 SD for weight and –2 SD for height).
The authors regret the errors.