Table 1. Demographic, clinical, and... | Rockefeller University Press

Table 1.

Demographic, clinical, and genetic characteristics of eight patients with CHAPLE disease

Characteristic	P1	P2	P3	P4	P5	P6	P7	P8
Ethnicity	Algerian	Algerian	Algerian	Algerian	Algerian	Syrian	Algerian	Algerian
CD55 variant
Variant	c.1112 T>G	c.515 G>A	c.98 G>A	c.98 G>A	c.479-2 A>G	c.348_349del	c.515 G>A	c.1112 T>G
Amino acid change	p.Leu371Arg	p.Gly172Asp	p.Trp33Ter	p.Trp33Ter	–	p.Asn117LeufsTer11	p.Gly172Asp	p.Leu371Arg
Zygosity	Homozygous	Homozygous	Homozygous	Homozygous	Homozygous	Homozygous	Homozygous	Homozygous
Demographic characteristics
Sex	Female	Male	Male	Male	Female	Male	Male	Female
Consanguinity in parents	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Similar cases in sibling	No	No	Yes	Yes	No	Yes	No	No
Age at last follow-up (years)	7	8	7	4	16	5	9	12
Age at diagnosis (years)	5	7	6	2	14	2.5	8	11
Age at onset of symptoms (months)	13	4	24	20	60	24	48	96
Manifestations of gastrointestinal disease
Chronic or recurrent diarrhea	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Abdominal pain	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Vomiting	Yes	Yes	Yes	Yes	No	Yes	Yes	Yes
Features of PLE
Hypoalbuminemia	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Facial or extremity edema	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Ascites	No	No	Yes	Yes	Yes	No	Yes	Yes
Malabsorption features
Growth retardation	Yes	No	Yes	Yes	Yes	Yes	Yes	Yes
Anemia	Yes	Yes	Yes	Yes	Yes	No	Yes	Yes
Micronutrient deficiency	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Features of thrombotic disease
Thrombosis	Femoral vein thrombosis, pulmonary embolism	Cerebral venous thrombosis, pulmonary embolism	Budd–Chiari syndrome	Budd–Chiari syndrome	Lower limb thrombosis	No	Budd–Chiari syndrome	No
Imaging findings
Bowel wall thickening	Yes	No	Yes	Yes	Yes	Yes	No	Yes
Inflammatory changes	Yes	No	Yes	Yes	Yes	Yes	No	Yes
Endoscopic findings
Mucosal ulcers	No	No	Yes	No	Yes	No	No	No
Mucosal nodules	No	No	No	No	Yes	No	No	Yes
Lymphoid infiltrates in mucosa	Yes	No	Yes	No	Yes	No	No	Yes
Infectious disease
Hypogammaglobulinemia	Yes	Yes	No	No	Yes	Yes	No	Yes
Recurrent respiratory infections	Yes	No	No	No	Yes	No	No	Yes
Additional features	Hepatomegaly	Hypothyroidism, asthma	Hepatomegaly, cirrhosis, asthma	Hepatomegaly, cirrhosis			Hepatomegaly, cirrhosis	Hepatomegaly, splenomegaly, mesenteric lymphadenopathy, asthma
Treatment	Supportive and symptomatic management	Supportive and symptomatic management	Supportive and symptomatic management	Supportive and symptomatic management	Eculizumab	Eculizumab	Supportive and symptomatic management, liver transplantation	Eculizumab
Alive/Deceased	Deceased at 7 years old (y/o)	Deceased at 8 y/o	Deceased at 7 y/o	Deceased at 4 y/o	Alive	Alive	Alive	Alive

Characteristic	P1	P2	P3	P4	P5	P6	P7	P8
Ethnicity	Algerian	Algerian	Algerian	Algerian	Algerian	Syrian	Algerian	Algerian
CD55 variant
Variant	c.1112 T>G	c.515 G>A	c.98 G>A	c.98 G>A	c.479-2 A>G	c.348_349del	c.515 G>A	c.1112 T>G
Amino acid change	p.Leu371Arg	p.Gly172Asp	p.Trp33Ter	p.Trp33Ter	–	p.Asn117LeufsTer11	p.Gly172Asp	p.Leu371Arg
Zygosity	Homozygous	Homozygous	Homozygous	Homozygous	Homozygous	Homozygous	Homozygous	Homozygous
Demographic characteristics
Sex	Female	Male	Male	Male	Female	Male	Male	Female
Consanguinity in parents	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Similar cases in sibling	No	No	Yes	Yes	No	Yes	No	No
Age at last follow-up (years)	7	8	7	4	16	5	9	12
Age at diagnosis (years)	5	7	6	2	14	2.5	8	11
Age at onset of symptoms (months)	13	4	24	20	60	24	48	96
Manifestations of gastrointestinal disease
Chronic or recurrent diarrhea	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Abdominal pain	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Vomiting	Yes	Yes	Yes	Yes	No	Yes	Yes	Yes
Features of PLE
Hypoalbuminemia	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Facial or extremity edema	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Ascites	No	No	Yes	Yes	Yes	No	Yes	Yes
Malabsorption features
Growth retardation	Yes	No	Yes	Yes	Yes	Yes	Yes	Yes
Anemia	Yes	Yes	Yes	Yes	Yes	No	Yes	Yes
Micronutrient deficiency	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Features of thrombotic disease
Thrombosis	Femoral vein thrombosis, pulmonary embolism	Cerebral venous thrombosis, pulmonary embolism	Budd–Chiari syndrome	Budd–Chiari syndrome	Lower limb thrombosis	No	Budd–Chiari syndrome	No
Imaging findings
Bowel wall thickening	Yes	No	Yes	Yes	Yes	Yes	No	Yes
Inflammatory changes	Yes	No	Yes	Yes	Yes	Yes	No	Yes
Endoscopic findings
Mucosal ulcers	No	No	Yes	No	Yes	No	No	No
Mucosal nodules	No	No	No	No	Yes	No	No	Yes
Lymphoid infiltrates in mucosa	Yes	No	Yes	No	Yes	No	No	Yes
Infectious disease
Hypogammaglobulinemia	Yes	Yes	No	No	Yes	Yes	No	Yes
Recurrent respiratory infections	Yes	No	No	No	Yes	No	No	Yes
Additional features	Hepatomegaly	Hypothyroidism, asthma	Hepatomegaly, cirrhosis, asthma	Hepatomegaly, cirrhosis			Hepatomegaly, cirrhosis	Hepatomegaly, splenomegaly, mesenteric lymphadenopathy, asthma
Treatment	Supportive and symptomatic management	Supportive and symptomatic management	Supportive and symptomatic management	Supportive and symptomatic management	Eculizumab	Eculizumab	Supportive and symptomatic management, liver transplantation	Eculizumab
Alive/Deceased	Deceased at 7 years old (y/o)	Deceased at 8 y/o	Deceased at 7 y/o	Deceased at 4 y/o	Alive	Alive	Alive	Alive

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