Table 1.

Characteristics of individual Coronin-1A deficient patients, listed within sibships, and findings common to all 7 cases.

Feature1	New Patient P7 (this report)	Previous published reports			Common findings
		P1 [5,6]	P2, P3, P4 [7]	P5, P6 [18,19]
Age at immune evaluation, sex	14 mo F	15 mo F	P2, 12 mo M; P3, 7.5 mo F; P4, 14 mo F	P5, 7 yr F; P6, 7 yr M	CID, onset of infections in infancy
Genotype	R12L/del16p11	c248delCT/del16p11	V134M/V134M	c248delCT/Q360RfsX44	Interstitial del 16p11; recessive variants
Outcome	Died of lymphoma prior to HCT2	Alive and well after HCT	P2 alive, no HCT; P3 died prior to HCT; P4 died with HCT	P5 died with HCT; P6 alive, HCT planned	HCT can cure otherwise lethal infections and organ damage
Immunoglobulins (mg/dL)
IgG (762±209)	50	NA3 (on IVIG)	Normal	Normal	Low - normal
IgM (58±23)	151	46	Normal	P5 low; P6 normal	Low - normal
IgA (50±24)	60	42	Normal	P5 low; P6 normal	Low - normal
Lymphocyte subsets (cells/uL)
CD3 T (2100–6200)	98	110	Low	Low	Low
CD4 T (1300–3400)	39	50	Low	Low	Low
CD8 T (620–2000)	49	30	Low	Low	Low
CD45RA T	Nearly absent	Low	Low	Very low	Low
CD45RO T (<65%)	90%	NA	98%	NA	High
TRECs at diagnosis (>33/μl)	2 (normal PCR control)	NA	NA	NA	Low
CD19 B (300–2600)	59	410	Low	Low	Low - normal
CD16/56 NK (>200)	121	340	Normal	Low	Low - normal
NK cell function	Normal	NA	NA	Low	Low - normal
Mitogen response (% of normal)
PHA	<10%	10–30%	Low-normal	Low	Low - normal
PWM	<10%	<10%	NA	Low - normal	Low - normal
ConA	<10%	<10%	NA	Low	Low
Antibody production after vaccination
Tetanus (>0.15 IU/ml)	1.65	0.02	Normal	Normal	Poor specific antibody responses
H. influenzae B (>1.0 IU/ml)	NA	0.7	<1.0	NA
S pneumoniae (serotypes protective)	0 post 13-valent conjugate vaccine	NA	P2, P3 NA; P4 normal	Low - normal
Other studies
Epstein-Barr virus	>25,000 copies; EBV+B cell lymphoma at 14 mo	NA	P4, EBV+ B cell lymphoproliferation, lymphoma at 12 mo	P5, stage IV Hodgkin lymphoma and diffuse large B cell lymphoma, both EBV+	Severe EBV infections, early onset EBV+ lymphoma
TCR Vβ	High CD8 Vβ5.1	NA	P2, high Vβ4; P2 and P4, low TCR diversity	Abnormal TCR	Limited TCR diversity

¹Normal ranges for ages 12–24 months in parentheses.

²HCT, hematopoietic cell transplant.

³NA, not available