Table 1. Clinical and biological data of... | American Society of Hematology

Table 1.

Clinical and biological data of the cohort

Patients	Patient A		Patient B		Patient C		Patient D1	Patient D2		Patient E		Patient F		Patient G
AA change	p.L1298R		p.H1336R		p.T275S		p.D414Y	p.D414Y		p.L1706S		p.R1366Q		p.R1885C
Age (y)	14		7		29		20	20		20		6.5		14
Clinical manifestations
Age at onset (y)	1.4		5		5		14	9		3		5		5
Autoimmune manifestations	Severe ITP		RF polyarticular JIA		Evans		SLE	SLE		Evans		AI neutropenia		Evans
Skin manifestation	Sweet syndrome, panniculitis		—		Folliculitis		Oral discoid LE	Bullous cutaneous SLE		—		Ecthyma gangrenosum		—
Digestive manifestation	Severe IBD (ileo-colitis)		Colon cryptitis		—		Ileitis	—		—		Anal and oral ulcers Intermittent diarrhea		—
Others	Non regenerative anemia		Hemolytic anemia		—		PID, growth retardation	Growth retardation		—		Autoinflammatory syndrome, lymphoproliferation, underweight		—
Therapies	Corticosteroids, IVIG, rituximab, azathioprine, everolimus, infliximab		Corticosteroids, methotrexate, adalimumab		Corticosteroids		Corticosteroid, MMF, HCQ, belimumab	Steroids, HCQ		IVIG, corticosteroids		Antibiotics		Corticosteroids, rituximab, sirolimus
Immunophenotypage	Defect memory and transitional B cells		Normal B cells, T and NK cell lymphopenia, NC		Excess of CD21_low B cells, B cell lymphopenia, diminished MZB, and switched memory B cells		Excess CD21_low and transitional B cells, diminished MZB	Excess CD21_low and transitional B cells, NK cell lymphopenia		Normal, NC		Global lymphopenia, excess of CD21_low and transitional B cells		Diminished switch memory B cells and excess of transitional B cells
Immunoglobulin dosage	Value	Reference values	Value	Reference values	Value	Reference values	Value	Value	Reference values	Value	Reference values	Value	Reference values	Value	Reference values
g/L	IgG 14 IgA 2.15 IgM 0.25	6.6-15.3 0.5-2.2 0.53-1.62	IgG N IgA N IgM N	—	IgG 1.24 IgA <0.05 IgM 0.46	6.6-15.3 0.5-2.2 0.53-1.62	γ 26.3 g/L	γ 17 gr/L	6.9-15	IgG 10.73 IgA 1.24 IgM 0.42	6.44-11.96 0.63-2.02 0.416-1.31	IgG 27 IgA 3 IgM 7	5.5-11.15 0.4-1.6 0.5-1.5	IgG 3.69 IgA 0.16 IgM 0.25	6.6-15.3 0.5-2.2 0.53-1.62
Autoantibodies	ANCA, anti-αIIbβ3, ANA, anti-TPO, antithyroglulin		RF, +IgG Coombs		+IgG Coombs		ANA, RF, anti-RNP, anti-Sm	ANA, RF, anti-RNP, anti-Sm		+IgG Coombs		Weak + anti-CD16		+IgG and complement Coombs

Patients	Patient A		Patient B		Patient C		Patient D1	Patient D2		Patient E		Patient F		Patient G
AA change	p.L1298R		p.H1336R		p.T275S		p.D414Y	p.D414Y		p.L1706S		p.R1366Q		p.R1885C
Age (y)	14		7		29		20	20		20		6.5		14
Clinical manifestations
Age at onset (y)	1.4		5		5		14	9		3		5		5
Autoimmune manifestations	Severe ITP		RF polyarticular JIA		Evans		SLE	SLE		Evans		AI neutropenia		Evans
Skin manifestation	Sweet syndrome, panniculitis		—		Folliculitis		Oral discoid LE	Bullous cutaneous SLE		—		Ecthyma gangrenosum		—
Digestive manifestation	Severe IBD (ileo-colitis)		Colon cryptitis		—		Ileitis	—		—		Anal and oral ulcers Intermittent diarrhea		—
Others	Non regenerative anemia		Hemolytic anemia		—		PID, growth retardation	Growth retardation		—		Autoinflammatory syndrome, lymphoproliferation, underweight		—
Therapies	Corticosteroids, IVIG, rituximab, azathioprine, everolimus, infliximab		Corticosteroids, methotrexate, adalimumab		Corticosteroids		Corticosteroid, MMF, HCQ, belimumab	Steroids, HCQ		IVIG, corticosteroids		Antibiotics		Corticosteroids, rituximab, sirolimus
Immunophenotypage	Defect memory and transitional B cells		Normal B cells, T and NK cell lymphopenia, NC		Excess of CD21_low B cells, B cell lymphopenia, diminished MZB, and switched memory B cells		Excess CD21_low and transitional B cells, diminished MZB	Excess CD21_low and transitional B cells, NK cell lymphopenia		Normal, NC		Global lymphopenia, excess of CD21_low and transitional B cells		Diminished switch memory B cells and excess of transitional B cells
Immunoglobulin dosage	Value	Reference values	Value	Reference values	Value	Reference values	Value	Value	Reference values	Value	Reference values	Value	Reference values	Value	Reference values
g/L	IgG 14 IgA 2.15 IgM 0.25	6.6-15.3 0.5-2.2 0.53-1.62	IgG N IgA N IgM N	—	IgG 1.24 IgA <0.05 IgM 0.46	6.6-15.3 0.5-2.2 0.53-1.62	γ 26.3 g/L	γ 17 gr/L	6.9-15	IgG 10.73 IgA 1.24 IgM 0.42	6.44-11.96 0.63-2.02 0.416-1.31	IgG 27 IgA 3 IgM 7	5.5-11.15 0.4-1.6 0.5-1.5	IgG 3.69 IgA 0.16 IgM 0.25	6.6-15.3 0.5-2.2 0.53-1.62
Autoantibodies	ANCA, anti-αIIbβ3, ANA, anti-TPO, antithyroglulin		RF, +IgG Coombs		+IgG Coombs		ANA, RF, anti-RNP, anti-Sm	ANA, RF, anti-RNP, anti-Sm		+IgG Coombs		Weak + anti-CD16		+IgG and complement Coombs

Clinical and biological phenotypes of patients with mutated DOCK11.

Listed are reference ranges or laboratory values for the patient age groups. Therapy refers to all therapies that patients received.

AI neutropenia, autoimmune neutropenia; ANA, antinuclear antibodies; ANCA, antineutrophil cytoplasmic antibody; anti-αIIbβ3, antibody against integrin α-IIb/β-3; anti-RNP, antiribonucleoprotein antibody; anti-Sm, antismooth muscle antibody; HCQ, hydroxychloroquine; +IgG Coombs, positive direct Coombs with detection of immunoglobulin G; +IgG and complement Coombs, positive direct Coombs with detection of immunoglobulin G and C3; IBD, inflammatory bowel disease; IVIG, intravenous immunoglobulins; JIA, juvenile idiopathic arthritis; LE, lupus erythematosus; MMF, mycophenolate mofetil; MZB, marginal zone B cells; N, normal values; NC, not complete B phenotype; NK, natural killer; PID, pulmonary interstitial disease; RF, rheumatoid factor; TPO, thyroid peroxidase antibody; γ, gamma globulins detected in serum protein electrophoresis.

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