case_images: PMC6348249_01
case_images: PMC6348249_02
case_images: PMC6348249_03
case_images: PMC6348249_04
case_images: Carboxyfluorescein succinimidyl ester lymphoproliferation assay, plot (upper panel), and indexes (lower panel).
case_images: fped-06-00426-g0003.jpg
case_images: PMC6348249_04_fped-06-00426-g0003.jpg
case_images: F3
case_images: However, CFSE lymphocyte proliferation assay was low at age 9 months, and absent 3 years later, under: PMA/ionomycin, phytohemagglutinin, concanavalin, and anti-CD3/CD28 stimuli (Figure 3).
case_images: PMC6348249_05
case_images: (A) Short stature with overweight in normocephalic school-age boy. Contrast with (B,C) Facial dysmorphisms seen in two twin sisters with LIG4 deficiency. Note prominent middle third of the face, long nose, micrognathia, long ears, jaundice, protruding tongue. (Face photos published with permission from their mothers).
case_images: fped-06-00426-g0001.jpg
case_images: PMC6348249_05_fped-06-00426-g0001.jpg
case_images: F1
case_images: In time, the patient, now 6 years old, developed obesity with normal stature and head circumference (see Figure 1), and no other manifestation. On physical examination, short stature (below percentile 10), low weight, mild to moderate mental retardation and speech delay were noted, with microcephaly below p3, a prominent mid-face with long nose, and micrognathia with a protruding tongue (see Figure 1).
case_images: Family trees. In Family A, the elder siblings of the proband died young of lymphoma. The proband has a history of avascular necrosis of the femoral head, short stature and isolated CD4+ deficiency; his younger brother is asymptomatic. In Family B, teenage twin sisters died after a long history of recurrent infections, chronic liver disease, and progressive bone marrow failure (The pedigrees were built at pedigree.progenygenetics.com; they are included after written informed consent from the mothers).
case_images: fped-06-00426-g0002.jpg
case_images: PMC6348249_05_fped-06-00426-g0002.jpg
case_images: F2
case_images: A younger brother, born in 2017, is also asymptomatic, in apparent good health (Figure 2).
case_images: PMC6348249_06