Table 3. Summary of Genotype with Immune and Clinical Phenotypes in our CORO1A Kindred.

CORO1A Kindred	Patient 1 Female (Index)	Patient 2 Male (Younger Sibling)	Patient 3, Mother	Patient 4, Father
Thymus	Present	Present	ND	ND
Live Viral Vaccines	Tolerated	Tolerated	NA	NA
Immune Phenotype
T-cells	Absent Naïve T-cells	Absent Naïve T-cells	Normal	Normal
	High DN (ϒδ) T-cells,	High DN (ϒδ) T-cells	Normal	Normal
	Low CD4 T-cells	Low CD4 T-cells	Normal	Low CD4 T-cells
	Low Mitogen LPA	Low Mitogen LPA	Normal	Normal
B-cells	Absent memory B-cells	Absent memory B-cells	Normal	Normal
	High IgE	High IgE	ND	ND
	Normal IgG	Normal IgG, M, A	ND	ND
	Low IgM, IgA
	Specific Antibody Loss (Table 2)	Specific Antibody intact		ND
NK-cells (nadir)	Low (9%)	Low (5%)	Low (2%)	Normal
Clinical Phenotype
Onset (7 years)	Cutaneous Leprosy	Cutaneous EV-HPV*	No disease	No disease
	Mucocutaneous HSV-1	Cutaneous Molluscum*
	Rhinosinusitis*	Rhinosinusitis*
	Asthma*	Asthma*
	Bronchiectasis*	Bronchiectasis*
	Staphylococcal cellulitis	Parvovirus B19 Sepsis
Mid (9–10 years)	Cutaneous EV-HPV*, types 5 & 17	Mucosal HSV	No disease	No disease
	Cutaneous Molluscum*
	Staphylococcal cellulitis
Late (14–16 years)	Lymphoma	NA	No disease	No disease
	Hodgkins Large B-cell, EBV-associated
Malignancy	Yes	No	No	No
Survival	Death, 16 years of age	Alive	Alive	Alive
Other
Autism/ADHD Disorders	No	No	No	No
Dysmorphic features	No	Subtle	No	No

Abnormalities in the immunologic and clinical presentations are shown. Immune abnormalities were persistent from the onset of findings stated. The clinical findings are arranged by periods in year of presentation. All phenotypic manifestations presented prior to stem cell transplantations (SCT). SCT for P1, haploidentical maternal donor at 15 years of age before CORO1A diagnosis was known and for P2, in preparation upon confirmation of this CORO1A finding

^*Persistent diseases

Abbreviations: ADHD, attention deficit hyperactivity disorder, NA, not applicable; ND, not done