Potential protein–phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients

Table 1 Clinical features of the three patients with LPS-responsive beige-like anchor protein deficiency

		Patient 1	Patient 2	Patient 3
Age of onset		2.0 yr	10.0 mo	< 1.0 yr
Age of genetic diagnosis (yr)		3.9	2	3
Current age (yr)		5.4	7.1	3.2
Sex		M	F	M
Consanguinity		No	No	No
Final outcome		Alive	Alive	Alive
First symptoms		Diarrheal, abdominal distention	Diarrheal, hematochezia, abdomen pain	Diarrheal, growth delay
Failure to thrive		(+)	(-)	(+)
Other clinical findings		RURI, temporary hypothyroidism, neutropenia, urticaria, arthritis, growth delay	No	Elevated liver enzymes, renal pelvis separation, sepsis, temporary hypothyroidism, pneumonia
Endoscopy findings		Non-specific colitis	Chron's-like disease	Non-specific colitis
Infectious agents		No documented infectious agent	No documented infectious agent	Rotavirus, Klebsiella pneumoniae, Bacillus thuringiensis
IgG (g/L) (RV: 4.95-12.85)		12.7	8.7	4.4
IgA (g/L) (RV: 0.52-2.16)		1.42	0.28	0.49
IgM (g/L) (RV: 0.65-2.01)		0.8	1.01	2.04
White blood cells count (× 109)		2.70-3.60	7.2	9.7
(RV: 4.0-10.0)
Absolute lymphocyte count (× 109) (RV: 1.20-4.00)		2.00-2.80	3.6	3.36
Absolute neutrophil count (× 109) (RV: 2.00-7.00)		0.21-0.42	3.18	5.54
CD19+ B cells	(%) (RV: 14-21)	12.78	18.63	12.03
	Count	345.82	535.9	349.8
CD3+ T cells	(%) (RV: 64-73)	76.97	69.66	59.69
	Count	2083.5	2003.7	1735.4
CD3+CD4+ Th cells	(%) (RV: 29-36)	39.86	37.37	33.32
	Count	1078.83	1074.84	965.76
CD3+CD8+ Tc cells	(%) (RV: 24-34)	32.04	31.4	24.38
	Count	867.33	903.31	708.84
CD3-CD16+56+NK cells	(%) (RV: 11-23)	8.88	10.34	26.98
	Count	240.5	297.45	784.43
CD4/CD8		1.24	1.19	1.36
Immunosuppressive agents		/	Steroids, 5-ASA, AZA	Steroids
HSCT		+	-	-

RURI: Recurrent upper respiratory infections; RV: Reference values; ASA: Acetyl salicylic acid; AZA: Azathioprine; HSCT: Hematopoietic stem cell transplantation.