Table 1. Clinical summary Features A.1... | Rockefeller University Press

Table 1.

Clinical summary

Features	A.1	B.1	B.II.1	C.1
Demographics
Age (years)	32	43	17	5
Gender	Female	Female	Male	Male
Ethnic background	Turkish	Caucasian American	Caucasian American	Chinese
Clinical Infections	Sinusitis, otitis, sinopulmonary, conjunctivitis	Otitis, sinopulmonary	Sinusitis, sinopulmonary, conjunctivitis	Sinopulmonary
Autoimmunity	Arthritis, IBD	Unknown	None	Arthritis
Cytopenias	Thrombocytopenia	Unknown	No	No
LAD	Yes	Yes	Yes	Yes
Splenomegaly	Yes; splenectomy	Yes	Yes; splenectomy	No
Pulmonary	Bronchiectasis	Unknown	Bronchiectasis	No
Inflammation	High ESR, CRP	Unknown	High ESR	High ESR, CRP
Other	Breast papillomas; poor growth	Recurrent lymphoma; HSCT	Cystic kidneys; poor growth	Hepatomegaly; sepsis; poor growth
PBMCs
Lymphocyte ct	6,420/µl ↑	2,100/µl	1,312/µl	1,300/µl
T cell ct	4,488/µl ↑	Unknown	1,036/µl	1,144/µl
B cell ct	122/µl	Unknown	39/µl ↓	0.52/µl ↓
% CD4 T cell	16.8% ↓	Unknown	29% ↓	16.9% ↓
% CD8 T cell	50% ↑	Unknown	50% ↑	68.7% ↑
% B cell	1.9% ↓	Unknown	3% ↓	0.04% ↓
CD4:CD8	0.34 ↓	Unknown	0.58 ↓	0.25 ↓
Immunoglobulins
IgG	↓ (on IVIG)	↓ (on IVIG)	↓ (on IVIG)	↓ (on IVIG)
IgA	<5 mg/dl ↓	Unknown	absent ↓	8 mg/dl ↓
IgM	1,646 mg/dl ↑	Unknown	36.9 mg/dl	14 mg/dl ↓
EBV/CMV	None	Unknown	CMV lymphadenitis	None

Features	A.1	B.1	B.II.1	C.1
Demographics
Age (years)	32	43	17	5
Gender	Female	Female	Male	Male
Ethnic background	Turkish	Caucasian American	Caucasian American	Chinese
Clinical Infections	Sinusitis, otitis, sinopulmonary, conjunctivitis	Otitis, sinopulmonary	Sinusitis, sinopulmonary, conjunctivitis	Sinopulmonary
Autoimmunity	Arthritis, IBD	Unknown	None	Arthritis
Cytopenias	Thrombocytopenia	Unknown	No	No
LAD	Yes	Yes	Yes	Yes
Splenomegaly	Yes; splenectomy	Yes	Yes; splenectomy	No
Pulmonary	Bronchiectasis	Unknown	Bronchiectasis	No
Inflammation	High ESR, CRP	Unknown	High ESR	High ESR, CRP
Other	Breast papillomas; poor growth	Recurrent lymphoma; HSCT	Cystic kidneys; poor growth	Hepatomegaly; sepsis; poor growth
PBMCs
Lymphocyte ct	6,420/µl ↑	2,100/µl	1,312/µl	1,300/µl
T cell ct	4,488/µl ↑	Unknown	1,036/µl	1,144/µl
B cell ct	122/µl	Unknown	39/µl ↓	0.52/µl ↓
% CD4 T cell	16.8% ↓	Unknown	29% ↓	16.9% ↓
% CD8 T cell	50% ↑	Unknown	50% ↑	68.7% ↑
% B cell	1.9% ↓	Unknown	3% ↓	0.04% ↓
CD4:CD8	0.34 ↓	Unknown	0.58 ↓	0.25 ↓
Immunoglobulins
IgG	↓ (on IVIG)	↓ (on IVIG)	↓ (on IVIG)	↓ (on IVIG)
IgA	<5 mg/dl ↓	Unknown	absent ↓	8 mg/dl ↓
IgM	1,646 mg/dl ↑	Unknown	36.9 mg/dl	14 mg/dl ↓
EBV/CMV	None	Unknown	CMV lymphadenitis	None

LAD: lymphadenopathy; ct: count; arrows indicate high and low values, respectively.