Page 119 - 2022_02-Haematologica-web

Pediatric-onset Evans syndrome outcomes
Seven patients (4.6%) met the diagnostic criteria for ALPS after pES onset which prompted targeted genetic analysis.17 Overall, 66 of 151 patients (44%) underwent genetic analyses as previously described.13 Among them, 26 (39%) patients were considered to have a PID (includ- ing the seven with ALPS). They carried a heterozygous
pathogenic variant in CTLA4 (n=7), TNFRSF6 (germline n=6, somatic n=1), STAT3 (n=5), PIK3CD (n=1), CBL (n=1), and KRAS (somatic n=1) or a homozygous/com- pound heterozygous pathogenic variants in LRBA (n=3) and RAG1 (n=1). Compared to the 40 other patients, the 26 with a PID had more cIM (2 [range, 1-5] vs. 1 [range,
A
B
C
Figure 2. Immunopathological manifestations.
(A) Age at first clinical immunopathological man- ifestation (cIM) diagnosis and at first cytopenia. Pearson correlation coefficient r=0.42, P<0.0001. There was no difference in the medi- an age at first cIM and at first cytopenia in terms of the number of cIM (data not shown). (B) Cumulative incidence of cIM according to age. Half of the patients had developed a cIM by the age of 13.5 years and a second IM by the age of 27 years. (C) Cumulative incidence of any bio- logical IM (bIM), as well as each category. Half of the patients had at least one bIM diagnosed by 13.2 years of age. The biological workup was not standardized and was made at the clini- cian’s discretion. SLE: systemic lupus erythe- matosus; ALPS: autoimmune lymphoprolifera- tive syndrome.
haematologica | 2022; 107(2)
461