Table IV.

Patients with typical and leaky SCID; N=10^a

Case number	Gender	TREC average on initial specimen (TRECs/µL)	Genotype	Phenotypeb	Outcome and treatment
1	Female	Undetectable	IL7R (CD127-), c.353G>A, c.83-2A>T	T-B+NK+ Typical SCID CD3 (33), CD4 (22), CD8 (16), CD19 (866), CD16CD56 (409)	Transplant at age 5 months, unrelated cord blood donor with (6 out 8 match) conditioning, patient currently doing well
2	Male	Undetectable	Etiology unknown; chromosome 3p13-p14.2 deletion (no known association with immunodeficiency) (arr 3p13p14.2 62465455-72819352x1); negative for ADA, AK2, CD3D, CD3E, CD3Z, DCLRE1C, IL2RG, IL7R, JAK3, LIG4, NHEJ1, PNP, PTPRC, RAC2, RAG1, RAG2, RMRP, ZAP70 mutations	T-B+NK+ CD3 (334), CD4 (108), CD8 (248), CD19 (378), CD16CD56 (882), CD45RA (<1), CD45RO (463), Absent antigen responses to Candida and tetanus toxoid, low to virtually absent mitogen responses	Patient expired, MCA (cleft lip/palate, blepharophimosis, left iris coloboma, ASD, malrotation of small bowel, respiratory distress, thymic atrophy on autopsy)
3	Male	65	IL2RG mutation	T-B+NK+ Leaky SCID CD3 (235), CD4 (176), CD8 (22), CD19 (559), CD16CD56 (516)	S/p HSCT, patient currently doing well
4	Female	Undetectable	ADA deficiency	T-B-NK- Typical SCID ALC (0.34), flow cytometry not done due to small number of lymphocytes in specimen	Profound lymphopenia, Treatment: bactrim and fluconazole prophylaxis; Adagen started about 3 weeks after diagnosis
5	Male	Undetectable	IL2RG mutation	T-B+NK- Typical SCID CD3 (0), CD4 (0), CD8 (0), CD19 (3,519), CD16CD56 (71)	Older brother with SCID, s/p HSCT
6	Male	Undetectable	ADA deficiency	T-B-NK- Typical SCID ALC (0.6), flow cytometry not done due to small number of lymphocytes in specimen	Profound lymphopenia, Adagen bi-weekly
7	Male	Undetectable	IL2RG mutation	T-B+NK- Typical SCID CD3 (3), CD4 (1), CD8 (<1), CD19 (323), CD16CD56 (39)	S/p HSCT
8	Male	Undetectable	Unknown; genetic testing not done	T-B+NK+ Typical SCID CD3 (28), CD4 (0), CD8 (0), CD19 (384), CD16CD56 (391)	S/p HSCT
9	Female	55	Unknown; followed out of state	T-B+NK+ Typical SCID CD3 (45), CD4 (32), CD8 (25), CD19 (509), CD16CD56 (414)	S/p HSCTat 3.5 months of age; h/o autoimmune hemolytic anemia at 11 months of age
10	Male	Undetectable	IL2RG mutation	T-B+NK- Typical SCID CD3 (<20), CD4 (<20), CD8 (<20), CD19 (498), CD16CD56 (47)	S/p HSCT at 2 months of age with cord blood, patient currently doing well

^aA specimen was submitted for a patient presenting in the PICU who was born 5 months before newborn screening for SCID started in NYS. The patient was diagnosed with SCID based on clinical symptoms. TRECs were undetectable. Two mutations were identified in JAK3. Data for this baby is not included in this report

^b(flow cytometry) is provided in cells/µL; reference values are not indicated since the flow analysis was performed in multiple testing laboratories