Lymphoma

Research Article

Non-Hodgkin Lymphoma in Children with Primary Immunodeficiencies: Clinical Manifestations, Diagnosis, and Management, Belarusian Experience

Table 3

PID^a -related characteristics of patients with NHL^b.


Patient	PID	Genetic abnormalities	TRECs/KRECs	Immunological investigation					Associated features and PID-related anamnesis
Patient	PID	Genetic abnormalities	TRECs/KRECs	RTE^c, %	CD3+, cells/μL	CD4+, cells/μL	CD19+, cells/μL	Serum Ig	Associated features and PID-related anamnesis

Combined (severe +/−) immunodeficiencies

1	IL7Ra deficiency	I66T, V138I	/	3.6	2251	145	935	Decreased IgG	Omphalitis since birth, hypotrophy of 3 degrees, bronchiolitis at 1.5 months of age, fungal stomatitis, pneumonia at 4 months of age, malabsorption, hypotrophy of 3 degrees

2	DNA ligase IV deficiency	A3V, T9I, c.2736+3delC	ND	2.56	306	144	604	Decreased IgA, IgG	Ulcerative stomatitis at 11 months of age, necrotic stomatitis at 1.2 years of age, EBV^d meningoencephalitis at 1.6 years of age

3	Not specified	ND^e	/0	ND	ND	ND	ND	ND	Previous 2 sibling infants deaths due to infections, sepsis (Staph.aureus) at 1.3 years of age, skin infections, fungal stomatitis, malabsorption, hypotrophy of 3 degrees. Autopsy: hypoplasia, fat degeneration, and fibroplasia of the thymus

4	Not specified	ND	1.21/ 1.31	ND	ND	ND	ND	ND	Recurrent pneumonia since 3 months of age (Pseud.aeruginosa), fungal stomatitis and skin infection, generalized EBV infection at 1 year of age, malabsorption, hypotrophy of 2 degrees. Severe leucopenia. Autopsy: dysplasia and secondary atrophy of the thymus

5	Not specified	Not found	ND	ND	632	82	622	Normal	Generalized CMV^f + EBV infection with meningoencephalitis since 7 months of age to death, sepsis (mixed bacterial and fungal) since 8 months of age to death

6	Not specified	Not found	ND	8.6	3381	734	72	Normal	Congenital generalized CMV infection, intestine infection at 9 months of age, generalized EBV infection

7	Not specified	ND	0/3.49	ND	ND	ND	ND	ND	Microcephaly, mental retardation. Infections—ND.

8	Not specified	ND	1.52/ 3.88	ND	863	530	200	Normal	Microcephaly, growth and mental retardation, recurrent otitis and respiratory infections

Well-defined syndromes with immunodeficiency

9	WAS^g	Absence of WASP^h, no mutations in coding part	ND	5.4	1640	580	370	Decreased IgM	Thrombocytopenia, dermatitis, frequent respiratory infections

10	NBS^j	657-661delACAAA, chromosomal instability (12,9%), t(7;14), +der(7), inv(7), del(7)	2.10/ 4.52	0.2	691	515	309	Very low IgG	Low birthweight, microcephaly, physical and mental retardation, recurrent herpes labialis, autoimmune thrombocytopenia since 4 years of age, chronic otitis and pulmonary infection since 6 years of age, cutaneous tuberculosis since 8 years of age, autoimmune vasculitis since 9 years of age

11	NBS	657-661delACAAA	5.52/0	2.6	1176	518	103	Normal	Low birthweight, microcephaly, physical retardation, frequent respiratory infections since 4 years of age

12	NBS	657-661delACAAA	2.08/ 5.62	ND	ND	ND	ND	ND	Microcephaly. Infections—ND

13	NBS	657-661delACAAA	1.81/ 1.64	ND	ND	ND	ND	ND	Microcephaly, mental retardation, frequent respiratory infections

14	NBS	657-661delACAAA	0/0	ND	ND	ND	ND	Very low IgA, IgM, and IgG	Microcephaly, multiple skeletal anomalies, urogenital tract anomalies, congenital cystic lung dysplasia, chronic sinopulmonary tract infection, chronic respiratory failure of 2 degrees. Autopsy: thymic dysplasia

15	Bloom syndrome	Chromosomal instability (30%), t(7;14)	ND	ND	590	59	70	Very low IgG	Low birthweight, microcephaly, physical and mental retardation, ichthyosiform dermatosis, coffee spots, hypogonadism, thyroid hypoplasia, frequent respiratory infections since 6 months of age, chronic sinopulmonary tract infection, recurrent suppurative lymphadenitis

Disease of immune regulation

16	XLPS-1^k, SH2D1A deficiency	412G>C, 17Glu>Asp	ND	49.2	4380	1230	864	Absence of IgA, IgG	No severe infections before NHL

Primary immune deficiency disease, ^bnon-Hodgkin lymphoma, ^crecent thymic emigrants (CD4+CD45RA+CD31+), ^dEpstein-Barr virus, ^eno data, ^fCytomegalovirus, ^gWiskott-Aldrich syndrome, ^hWiskott-Aldrich syndrome protein, ^jNijmegen breakage syndrome, and ^kХ-linked lymphoproliferative syndrome-1.