Table.

Reported patients with DiGeorge syndrome and an LPD

	Ramos et al5	Sato et al6	Hong et al7	Itoh et al4	Present case
Age at LPD diagnosis/sex	23 months/female	7 months/male	14 years/female	25 years/male	15 years/female
Cytogenetics	Not done	Not done	Equivocal chromosome 22q11.2 deletion (method not specified)	Hemizygous chromosome 22q11.2 deletion (FISH)	Hemizygous chromosome 22q11.2 deletion (FISH)
DiGeorge syndrome features	Thymic and parathyroid aplasia; no cardiac anormaly	Dysmorphic face, hypothyroidism, TOF, thymic and parathyroid aplasia	TOF, undetectable parathyroid hormone, thymic hypoplasia	Dysmorphic face, TOF, major aortopulmonary collateral artery, VSD, markedly hypoplastic thymus and parathyroid glands	Dysmorphic face, hypoparathyroidism, VSD, PDA, right-sided aortic arch
Evidence of immunodeficiency	Low peripheral T-cell counts, several episodes of thrush and otitis media	Low peripheral T-cell counts, hypogammaglobulinemia	Low peripheral T-cell counts, recurrent otitis media and sinopulmonary infection (led to bronchiectasis)	Recurrent fever and diarrhea for several months	Low peripheral CD4+ T-cell counts, recurrent sinusitis and pneumonia, hypogammaglobulinemia
Autoimmune phenomenon	Not mentioned	Not mentioned	Not mentioned	Not mentioned	Evans syndrome
Major complications	Not mentioned	Not mentioned	None	Hemophagocytic syndrome, DIC, multiorgan failure	None
Nature of LPD	EBV+ DLBCL involving mediastinal lymph nodes, brain, liver, and kidneys	EBV+ DLBCL involving mediastinal and mesenteric lymph nodes, lung, trachea, larynx, small intestine, and liver	EBV+ DLBCL manifested with generalized lymphadenopathy	EBV+ peripheral T-cell lymphoma (CD3+, CD5+, CD8+, CD56−, TIA1+), involving mediastinal, para-aortic, and inguinal lymph nodes	MALT lymphoma (EBV−) involving lungs and presumptive cervical, axillary, mediastinal, abdominal, and pelvic lymph nodes (no pretreatment lymph node biopsy results to document lymphoma)
Therapy for LPD	Refused therapy for malignancy	Not mentioned	Chemotherapy (modified French LMB 89), thymus transplantation at 8 months after complete course of chemotherapy, autologous anti-EBV cytotoxic T-cell infusion (for relapsed disease)	None	Immunochemotherapy (6 cycles of R-CHOP)
Outcome*	Died 1 month after diagnosis of LPD	Died 1 month after diagnosis of LPD	Relapsed 16 months after thymus transplantation but later achieved remission for at least 29 months	Died at 12 hours after admission	In complete remission at least 22 months after diagnosis of LPD, lymph node biopsy at 17 months showed only granulomas.

DIC, disseminated intravascular coagulation; DLBCL, diffuse large B-cell lymphoma; FISH, fluorescence in situ hybridization; PDA, patent ductus arteriosus; TOF, tetralogy of Fallot; VSD, ventricular septal defect.

^*All patients who died underwent autopsy.