Table 2. IEI with described ILC... | Rockefeller University Press

Table 2.

IEI with described ILC abnormalities: Peripheral and tissue immune cellular profiles

Disease	Blood total ILC	Blood ILC1	Blood ILC2	Blood ILC3	Tissue ILC	Lymphoid organogenesis	Ig	T cells	B cells	NK Cells	Neutrophils	ILC reference
gc deficiency SCID	Absent	Absent	Absent	Absent	Absent	Absent lymph nodes, tonsils	Low	Very low	Normal to high	Low	Normal	(103)
JAK3 deficiency SCID	Reduced	Reduced	Reduced	Reduced	Reduced	Absent lymph nodes, tonsils	Low	Very low	Normal to high	Low	Normal	(103)
IL7Ra deficiency SCID	Reduced	Reduced	Reduced	Reduced	Reduced	NR	Low	Very low	Normal to high	Normal	Normal	(103)
RAG1 deficiency SCID	Normal to high	Normal to high	Normal to high	Normal to high	Elevated ILC2 in OS	Present	Low	Very low	Very low	Normal to high	Normal	(104)
RAG2 deficiency SCID	Normal to high	Normal to high	Normal to high	Normal to high	Elevated ILC2 in OS	Present	Low	Very low	Very low	Normal to high	Normal	(104)
RORgt deficiency	Not Calculated	Reduced	Increased	Reduced	NT	Absence of palpable axillary and cervical lymph nodes (despite visible tonsils), reduced thymus size	NR	Mild CD4⁺ and CD8⁺ αβ T cell lymphopenia	Normal	Normal	NR	(105)
IL-12Rb2 deficiency	Normal	NT	NT	NT	NT	NR	Normal	Normal	Normal	Reduced cell numbers and function	Normal	(106)
IL-23R deficiency	Normal	NT	NT	NT	NT	NR	Normal	Normal	Normal	Normal numbers; reduced INF-g production	Normal	(106)
IL-12R and IL-23Rb1 deficiency	Normal	NT	NT	NT	NT	NR	Normal	Normal	Normal	Reduced cell numbers and function	Normal	(106)
LAD1	Normal	Normal	Normal	Increased	NT	Present	Normal	Normal numbers, functional defects	Normal numbers	Normal numbers; marginal functional impairment	High in blood	(107)
DOCK8 deficiency (HIES)	Normal	Normal	Reduced	Reduced	NT	NR	Low IgM, normal to high IgG and IgA, high IgE	Low, poor proliferation; few, poorly functioning Treg	Very low CD27⁺ memory B cells; poor peripheral B cell tolerance	Low	Normal counts and burst; some migration and NETosis defects	(108)
WAS LOF	NT	NT	NT	NT	Reduced ILC3	Present, but altered T and B cell distribution	High IgE, low IgM	Progressive decrease in numbers; abnormal lymphocyte responses to anti-CD3	Normal numbers	Normal to high numbers; impaired cytotoxic functions	Normal/high numbers; impaired function	(109, Preprint)
ITK deficiency	Normal	Normal	Reduced	Reduced	NT	Present	Variable	Progressive decrease	Normal	Impaired Fc-mediated cytotoxicity	Normal	(108)
BCL11B deficiency	Normal	Normal	Reduced	Normal	NT	NR	Normal	Low	Normal	Subset and maturation defects	NR	(110)
DIAPH1 deficiency	Reduced	Reduced	Reduced	Reduced	NT	NR	Low IgM, normal IgG, variable IgA Near normal vaccine response	Decreased naive T cells and RTEs	High Naive/transitional; low memory	Functional defects	Normal counts and burst; migration and NETosis NT	(111)
STAT3 LOF (HIES)	Normal	Normal	Normal	Normal	NT	Present	High IgE	Normal overall; Th-17 and T-follicular helper cells decreased	Normal; reduced switched and non-switched memory B cells; BAFF expression increased	Variable, both normal and reduced reported	Normal	(108)
BTK deficiency (XLA)	Normal	Normal	Increase Trend	Normal	NT	Underdeveloped lymphoid tissues, including the spleen, lymph nodes, tonsils, and Peyer’s patches	Very low	Normal	Very low	Normal	Variable	(112)
CVID, no gene defect specified	Normal or increased	Normal	Reduced or NT	Increased	NT or ILC3 increased	Variable	Low IgG and IgA and/or IgM	Variable	Variable	Variable	Variable	(112)

Disease	Blood total ILC	Blood ILC1	Blood ILC2	Blood ILC3	Tissue ILC	Lymphoid organogenesis	Ig	T cells	B cells	NK Cells	Neutrophils	ILC reference
gc deficiency SCID	Absent	Absent	Absent	Absent	Absent	Absent lymph nodes, tonsils	Low	Very low	Normal to high	Low	Normal	(103)
JAK3 deficiency SCID	Reduced	Reduced	Reduced	Reduced	Reduced	Absent lymph nodes, tonsils	Low	Very low	Normal to high	Low	Normal	(103)
IL7Ra deficiency SCID	Reduced	Reduced	Reduced	Reduced	Reduced	NR	Low	Very low	Normal to high	Normal	Normal	(103)
RAG1 deficiency SCID	Normal to high	Normal to high	Normal to high	Normal to high	Elevated ILC2 in OS	Present	Low	Very low	Very low	Normal to high	Normal	(104)
RAG2 deficiency SCID	Normal to high	Normal to high	Normal to high	Normal to high	Elevated ILC2 in OS	Present	Low	Very low	Very low	Normal to high	Normal	(104)
RORgt deficiency	Not Calculated	Reduced	Increased	Reduced	NT	Absence of palpable axillary and cervical lymph nodes (despite visible tonsils), reduced thymus size	NR	Mild CD4⁺ and CD8⁺ αβ T cell lymphopenia	Normal	Normal	NR	(105)
IL-12Rb2 deficiency	Normal	NT	NT	NT	NT	NR	Normal	Normal	Normal	Reduced cell numbers and function	Normal	(106)
IL-23R deficiency	Normal	NT	NT	NT	NT	NR	Normal	Normal	Normal	Normal numbers; reduced INF-g production	Normal	(106)
IL-12R and IL-23Rb1 deficiency	Normal	NT	NT	NT	NT	NR	Normal	Normal	Normal	Reduced cell numbers and function	Normal	(106)
LAD1	Normal	Normal	Normal	Increased	NT	Present	Normal	Normal numbers, functional defects	Normal numbers	Normal numbers; marginal functional impairment	High in blood	(107)
DOCK8 deficiency (HIES)	Normal	Normal	Reduced	Reduced	NT	NR	Low IgM, normal to high IgG and IgA, high IgE	Low, poor proliferation; few, poorly functioning Treg	Very low CD27⁺ memory B cells; poor peripheral B cell tolerance	Low	Normal counts and burst; some migration and NETosis defects	(108)
WAS LOF	NT	NT	NT	NT	Reduced ILC3	Present, but altered T and B cell distribution	High IgE, low IgM	Progressive decrease in numbers; abnormal lymphocyte responses to anti-CD3	Normal numbers	Normal to high numbers; impaired cytotoxic functions	Normal/high numbers; impaired function	(109, Preprint)
ITK deficiency	Normal	Normal	Reduced	Reduced	NT	Present	Variable	Progressive decrease	Normal	Impaired Fc-mediated cytotoxicity	Normal	(108)
BCL11B deficiency	Normal	Normal	Reduced	Normal	NT	NR	Normal	Low	Normal	Subset and maturation defects	NR	(110)
DIAPH1 deficiency	Reduced	Reduced	Reduced	Reduced	NT	NR	Low IgM, normal IgG, variable IgA Near normal vaccine response	Decreased naive T cells and RTEs	High Naive/transitional; low memory	Functional defects	Normal counts and burst; migration and NETosis NT	(111)
STAT3 LOF (HIES)	Normal	Normal	Normal	Normal	NT	Present	High IgE	Normal overall; Th-17 and T-follicular helper cells decreased	Normal; reduced switched and non-switched memory B cells; BAFF expression increased	Variable, both normal and reduced reported	Normal	(108)
BTK deficiency (XLA)	Normal	Normal	Increase Trend	Normal	NT	Underdeveloped lymphoid tissues, including the spleen, lymph nodes, tonsils, and Peyer’s patches	Very low	Normal	Very low	Normal	Variable	(112)
CVID, no gene defect specified	Normal or increased	Normal	Reduced or NT	Increased	NT or ILC3 increased	Variable	Low IgG and IgA and/or IgM	Variable	Variable	Variable	Variable	(112)

NT, not tested; NR, not reported.