Rationale
The correlation between cytopenias and infection, malignancy, and mortality has not been systematically characterized in patients with inborn errors of immunity (IEIs).
Methods
We evaluated the association between anemia, thrombocytopenia, lymphopenia, and neutropenia and infection, malignancy, and mortality rates in IEI patients enrolled in the United States Immunodeficiency Network (USIDNET) registry.
Results
Of the 4,005 IEI patients enrolled in the USIDNET cohort through April 2019, we excluded 438 patients due to prior solid organ or hematopoietic stem cell transplantation. In the final cohort (n = 3,657), the median age of participants was 27 (IQR 16-50) years. Approximately 47.9% of participants were female. The majority of patients (57.2%) were classified as predominantly antibody deficiencies per the International Union of Immunological Societies (IUIS) categorization with common variable immunodeficiency being the most common diagnosis (38.9%). A total of 1,093 (29.9%) patients had one or more cytopenias, including 656 (17.9%) with anemia, 481 (13.2%) with thrombocytopenia, 323 (8.8%) with lymphopenia, and 336 (9.2%) with neutropenia. Approximately 274 (7.5%) of patients had immune-mediated cytopenias. Patients with cytopenias exhibited higher odds of infection (OR = 4.00, 95% CI 3.07-5.28), malignancy (OR = 2.51, 95% CI 1.93-3.25), and mortality (OR = 2.81, 95% CI 2.01-3.92) as compared with patients without cytopenias. Neutropenic patients frequently developed bacterial infections (58.6%), followed by viral (51.5%), fungal (35.4%), and parasitic (5.1%). Our cohort also demonstrated a high rate of sinopulmonary infections (75.8%) and skin and soft tissue infections (31.9%).
Conclusions
Cytopenias are a common manifestation across various IEIs. Patients with cytopenias exhibited a heightened risk of infection, malignancy, and mortality, highlighting underlying immune dysregulation and calling for the need to address cytopenias in the management of IEIs.
Table 1.
Cytopenias in primary immunodeficiencies and IUIS categories
| Immunodeficiency | # Thrombocytopenia | # Anemia | # Neutropenia | # Lymphopenia | # Any cytopenia | Total count (N = 3511) |
|---|---|---|---|---|---|---|
| Agammaglobulinemia | 10 (4%) | 25 (10%) | 23 (9%) | 3 (1%) | 45 (18%) | 257 |
| Ataxia telangiectasia | 6 (23%) | 6 (23%) | 2 (8%) | 7 (27%) | 11 (42%) | 26 |
| Autoimmune lymphoproliferative syndrome (ALPS) | 14 (22%) | 29 (45%) | 9 (14%) | 7 (11%) | 34 (53%) | 64 |
| Autoinflammatory disease | 1 (8%) | 0 (0%) | 1 (8%) | 0 (0%) | 2 (17%) | 12 |
| CHARGE syndrome | 0 (0%) | 0 (0%) | 0 (0%) | 1 (33%) | 1 (33%) | 3 |
| Chronic granulomatous disease | 9 (6%) | 45 (31%) | 3 (2%) | 0 (0%) | 51 (35%) | 145 |
| Combined immune deficiency | 9 (17%) | 11 (21%) | 10 (19%) | 16 (31%) | 22 (42%) | 52 |
| Common variable immune deficiency (CVID) | 210 (15%) | 259 (18%) | 86 (6%) | 79 (6%) | 416 (29%) | 1416 |
| Complement deficiency | 1 (4%) | 2 (8%) | 0 (0%) | 0 (0%) | 2 (8%) | 26 |
| DiGeorge syndrome | 20 (4%) | 16 (3%) | 7 (1%) | 41 (8%) | 63 (13%) | 496 |
| Dyskeratosis congenita | 0 (0%) | 0 (0%) | 0 (0%) | 1 (100%) | 1 (100%) | 1 |
| Ectodermal dysplasia with immunodeficiency (nemo and others) | 0 (0%) | 5 (21%) | 2 (8%) | 3 (12%) | 8 (33%) | 24 |
| HLH, including XLP and pigmentary disorders | 5 (31%) | 5 (31%) | 4 (25%) | 4 (25%) | 8 (50%) | 16 |
| Hyper IgE syndrome | 3 (3%) | 14 (15%) | 3 (3%) | 0 (0%) | 18 (19%) | 96 |
| Hyper IgM syndrome | 1 (2%) | 4 (9%) | 18 (38%) | 1 (2%) | 19 (40%) | 47 |
| Hypogammaglobulinemia | 11 (5%) | 21 (10%) | 10 (5%) | 10 (5%) | 35 (17%) | 209 |
| IgA deficiency | 1 (1%) | 2 (3%) | 2 (3%) | 7 (10%) | 11 (16%) | 68 |
| IgG subclass deficiency | 1 (4%) | 3 (12%) | 1 (4%) | 0 (0%) | 6 (23%) | 26 |
| Immune deficiency with syndromic features (not otherwise listed) | 0 (0%) | 1 (12%) | 0 (0%) | 0 (0%) | 1 (12%) | 8 |
| Immune dysregulation | 22 (29%) | 25 (33%) | 17 (23%) | 18 (24%) | 40 (53%) | 75 |
| Immunodeficiency unknown cause | 3 (16%) | 4 (21%) | 2 (11%) | 2 (11%) | 5 (26%) | 19 |
| Immunodeficiency with myelodysplasia (GATA2 and others) | 9 (33%) | 11 (41%) | 8 (30%) | 9 (33%) | 14 (52%) | 27 |
| Interferonopathy (Aicardi-Goutières and others) | 0 (0%) | 2 (29%) | 0 (0%) | 0 (0%) | 4 (57%) | 7 |
| Leukocyte adhesion deficiency | 0 (0%) | 3 (33%) | 0 (0%) | 0 (0%) | 3 (33%) | 9 |
| Mucocutaneous candidiasis | 0 (0%) | 5 (12%) | 1 (2%) | 1 (2%) | 7 (16%) | 43 |
| Neutropenia | 0 (0%) | 0 (0%) | 2 (100%) | 0 (0%) | 2 (100%) | 2 |
| NK cell defect | 1 (25%) | 0 (0%) | 1 (25%) | 0 (0%) | 2 (50%) | 4 |
| Omenn syndrome | 0 (0%) | 1 (100%) | 1 (100%) | 1 (100%) | 1 (100%) | 1 |
| Other immune deficiency - known cause | 3 (6%) | 7 (13%) | 2 (4%) | 0 (0%) | 9 (17%) | 54 |
| Other T-cell problems | 1 (14%) | 1 (14%) | 0 (0%) | 1 (14%) | 2 (29%) | 7 |
| Predisposition to severe viral infections | 6 (20%) | 12 (40%) | 23 (77%) | 1 (3%) | 24 (80%) | 30 |
| Severe combined immune deficiency (SCID) | 3 (5%) | 11 (17%) | 8 (12%) | 16 (24%) | 22 (33%) | 66 |
| Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells | 4 (4%) | 12 (12%) | 2 (2%) | 4 (4%) | 18 (19%) | 97 |
| Susceptibility to mycobacteria (MSMD) | 0 (0%) | 1 (12%) | 0 (0%) | 0 (0%) | 1 (12%) | 8 |
| TLR pathway abnormality | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 |
| Transient hypogammaglobulinemia of infancy with normal numbers of b cells | 0 (0%) | 0 (0%) | 1 (7%) | 0 (0%) | 1 (7%) | 14 |
| Wiskott-Aldrich syndrome | 35 (65%) | 13 (24%) | 3 (6%) | 3 (6%) | 38 (70%) | 54 |
| Immunodeficiency | # Thrombocytopenia | # Anemia | # Neutropenia | # Lymphopenia | # Any cytopenia | Total count (N = 3511) |
|---|---|---|---|---|---|---|
| Agammaglobulinemia | 10 (4%) | 25 (10%) | 23 (9%) | 3 (1%) | 45 (18%) | 257 |
| Ataxia telangiectasia | 6 (23%) | 6 (23%) | 2 (8%) | 7 (27%) | 11 (42%) | 26 |
| Autoimmune lymphoproliferative syndrome (ALPS) | 14 (22%) | 29 (45%) | 9 (14%) | 7 (11%) | 34 (53%) | 64 |
| Autoinflammatory disease | 1 (8%) | 0 (0%) | 1 (8%) | 0 (0%) | 2 (17%) | 12 |
| CHARGE syndrome | 0 (0%) | 0 (0%) | 0 (0%) | 1 (33%) | 1 (33%) | 3 |
| Chronic granulomatous disease | 9 (6%) | 45 (31%) | 3 (2%) | 0 (0%) | 51 (35%) | 145 |
| Combined immune deficiency | 9 (17%) | 11 (21%) | 10 (19%) | 16 (31%) | 22 (42%) | 52 |
| Common variable immune deficiency (CVID) | 210 (15%) | 259 (18%) | 86 (6%) | 79 (6%) | 416 (29%) | 1416 |
| Complement deficiency | 1 (4%) | 2 (8%) | 0 (0%) | 0 (0%) | 2 (8%) | 26 |
| DiGeorge syndrome | 20 (4%) | 16 (3%) | 7 (1%) | 41 (8%) | 63 (13%) | 496 |
| Dyskeratosis congenita | 0 (0%) | 0 (0%) | 0 (0%) | 1 (100%) | 1 (100%) | 1 |
| Ectodermal dysplasia with immunodeficiency (nemo and others) | 0 (0%) | 5 (21%) | 2 (8%) | 3 (12%) | 8 (33%) | 24 |
| HLH, including XLP and pigmentary disorders | 5 (31%) | 5 (31%) | 4 (25%) | 4 (25%) | 8 (50%) | 16 |
| Hyper IgE syndrome | 3 (3%) | 14 (15%) | 3 (3%) | 0 (0%) | 18 (19%) | 96 |
| Hyper IgM syndrome | 1 (2%) | 4 (9%) | 18 (38%) | 1 (2%) | 19 (40%) | 47 |
| Hypogammaglobulinemia | 11 (5%) | 21 (10%) | 10 (5%) | 10 (5%) | 35 (17%) | 209 |
| IgA deficiency | 1 (1%) | 2 (3%) | 2 (3%) | 7 (10%) | 11 (16%) | 68 |
| IgG subclass deficiency | 1 (4%) | 3 (12%) | 1 (4%) | 0 (0%) | 6 (23%) | 26 |
| Immune deficiency with syndromic features (not otherwise listed) | 0 (0%) | 1 (12%) | 0 (0%) | 0 (0%) | 1 (12%) | 8 |
| Immune dysregulation | 22 (29%) | 25 (33%) | 17 (23%) | 18 (24%) | 40 (53%) | 75 |
| Immunodeficiency unknown cause | 3 (16%) | 4 (21%) | 2 (11%) | 2 (11%) | 5 (26%) | 19 |
| Immunodeficiency with myelodysplasia (GATA2 and others) | 9 (33%) | 11 (41%) | 8 (30%) | 9 (33%) | 14 (52%) | 27 |
| Interferonopathy (Aicardi-Goutières and others) | 0 (0%) | 2 (29%) | 0 (0%) | 0 (0%) | 4 (57%) | 7 |
| Leukocyte adhesion deficiency | 0 (0%) | 3 (33%) | 0 (0%) | 0 (0%) | 3 (33%) | 9 |
| Mucocutaneous candidiasis | 0 (0%) | 5 (12%) | 1 (2%) | 1 (2%) | 7 (16%) | 43 |
| Neutropenia | 0 (0%) | 0 (0%) | 2 (100%) | 0 (0%) | 2 (100%) | 2 |
| NK cell defect | 1 (25%) | 0 (0%) | 1 (25%) | 0 (0%) | 2 (50%) | 4 |
| Omenn syndrome | 0 (0%) | 1 (100%) | 1 (100%) | 1 (100%) | 1 (100%) | 1 |
| Other immune deficiency - known cause | 3 (6%) | 7 (13%) | 2 (4%) | 0 (0%) | 9 (17%) | 54 |
| Other T-cell problems | 1 (14%) | 1 (14%) | 0 (0%) | 1 (14%) | 2 (29%) | 7 |
| Predisposition to severe viral infections | 6 (20%) | 12 (40%) | 23 (77%) | 1 (3%) | 24 (80%) | 30 |
| Severe combined immune deficiency (SCID) | 3 (5%) | 11 (17%) | 8 (12%) | 16 (24%) | 22 (33%) | 66 |
| Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells | 4 (4%) | 12 (12%) | 2 (2%) | 4 (4%) | 18 (19%) | 97 |
| Susceptibility to mycobacteria (MSMD) | 0 (0%) | 1 (12%) | 0 (0%) | 0 (0%) | 1 (12%) | 8 |
| TLR pathway abnormality | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 |
| Transient hypogammaglobulinemia of infancy with normal numbers of b cells | 0 (0%) | 0 (0%) | 1 (7%) | 0 (0%) | 1 (7%) | 14 |
| Wiskott-Aldrich syndrome | 35 (65%) | 13 (24%) | 3 (6%) | 3 (6%) | 38 (70%) | 54 |
Table 2.
Sites of infection in IEI
| Immunodeficiency | Urogenital | SSTI | Sino-pulmonary | Cardiac | Odontogenic | Ophthalmic | MSK | CNS | GI | Bloodstream | Any site | Total count (N = 3511) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Agammaglobulinemia | 18 (7%) | 92 (36%) | 221 (86%) | 0 (0%) | 1 (0%) | 67 (26%) | 25 (10%) | 34 (13%) | 66 (26%) | 29 (11%) | 235 (91%) | 257 |
| Ataxia telangiectasia | 1 (4%) | 3 (12%) | 21 (81%) | 0 (0%) | 0 (0%) | 2 (8%) | 1 (4%) | 1 (4%) | 8 (31%) | 3 (12%) | 24 (92%) | 26 |
| Autoimmune lymphoproliferative syndrome (ALPS) | 9 (14%) | 32 (50%) | 33 (52%) | 0 (0%) | 0 (0%) | 1 (2%) | 0 (0%) | 2 (3%) | 16 (25%) | 9 (14%) | 54 (84%) | 64 |
| Autoinflammatory disease | 1 (8%) | 3 (25%) | 5 (42%) | 0 (0%) | 0 (0%) | 2 (17%) | 0 (0%) | 1 (8%) | 1 (8%) | 0 (0%) | 9 (75%) | 12 |
| CHARGE syndrome | 1 (33%) | 1 (33%) | 2 (67%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (67%) | 3 (100%) | 3 |
| Chronic granulomatous disease | 13 (9%) | 115 (79%) | 123 (85%) | 0 (0%) | 5 (3%) | 8 (6%) | 17 (12%) | 14 (10%) | 75 (52%) | 15 (10%) | 143 (99%) | 145 |
| Combined immune deficiency | 5 (10%) | 25 (48%) | 40 (77%) | 1 (2%) | 0 (0%) | 11 (21%) | 3 (6%) | 5 (10%) | 12 (23%) | 12 (23%) | 43 (83%) | 52 |
| Common variable immune deficiency (CVID) | 242 (17%) | 381 (27%) | 1211 (86%) | 4 (0%) | 18 (1%) | 126 (9%) | 32 (2%) | 62 (4%) | 248 (18%) | 91 (6%) | 1265 (89%) | 1416 |
| Complement deficiency | 1 (4%) | 9 (35%) | 21 (81%) | 0 (0%) | 0 (0%) | 1 (4%) | 2 (8%) | 7 (27%) | 3 (12%) | 6 (23%) | 23 (88%) | 26 |
| DiGeorge syndrome | 22 (4%) | 34 (7%) | 157 (32%) | 7 (1%) | 0 (0%) | 11 (2%) | 2 (0%) | 1 (0%) | 11 (2%) | 19 (4%) | 171 (34%) | 496 |
| Dyskeratosis congenita | 0 (0%) | 0 (0%) | 1 (100%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (100%) | 1 |
| Ectodermal dysplasia with immunodeficiency (nemo and others) | 2 (8%) | 16 (67%) | 18 (75%) | 0 (0%) | 0 (0%) | 1 (4%) | 1 (4%) | 8 (33%) | 8 (33%) | 5 (21%) | 24 (100%) | 24 |
| HLH, including XLP and pigmentary disorders | 2 (12%) | 5 (31%) | 12 (75%) | 0 (0%) | 0 (0%) | 1 (6%) | 0 (0%) | 1 (6%) | 3 (19%) | 2 (12%) | 13 (81%) | 16 |
| Hyper IgE syndrome | 18 (19%) | 84 (88%) | 88 (92%) | 1 (1%) | 3 (3%) | 4 (4%) | 7 (7%) | 5 (5%) | 19 (20%) | 7 (7%) | 91 (95%) | 96 |
| Hyper IgM syndrome | 3 (6%) | 12 (26%) | 43 (91%) | 0 (0%) | 1 (2%) | 4 (9%) | 0 (0%) | 3 (6%) | 11 (23%) | 5 (11%) | 44 (94%) | 47 |
| Hypogammaglobulinemia | 34 (16%) | 56 (27%) | 162 (78%) | 0 (0%) | 2 (1%) | 10 (5%) | 3 (1%) | 1 (0%) | 23 (11%) | 6 (3%) | 173 (83%) | 209 |
| IgA deficiency | 8 (12%) | 15 (22%) | 63 (93%) | 0 (0%) | 0 (0%) | 4 (6%) | 1 (1%) | 3 (4%) | 16 (24%) | 1 (1%) | 66 (97%) | 68 |
| IgG subclass deficiency | 7 (27%) | 6 (23%) | 25 (96%) | 0 (0%) | 2 (8%) | 1 (4%) | 1 (4%) | 1 (4%) | 2 (8%) | 0 (0%) | 25 (96%) | 26 |
| Immune deficiency with syndromic features (not otherwise listed) | 4 (50%) | 3 (38%) | 6 (75%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (12%) | 1 (12%) | 8 (100%) | 8 |
| Immune dysregulation | 15 (20%) | 40 (53%) | 66 (88%) | 1 (1%) | 5 (7%) | 9 (12%) | 1 (1%) | 5 (7%) | 20 (27%) | 9 (12%) | 69 (92%) | 75 |
| Immunodeficiency unknown cause | 2 (11%) | 5 (26%) | 12 (63%) | 2 (11%) | 0 (0%) | 0 (0%) | 1 (5%) | 2 (11%) | 3 (16%) | 1 (5%) | 16 (84%) | 19 |
| Immunodeficiency with myelodysplasia (GATA2 and others) | 7 (26%) | 14 (52%) | 16 (59%) | 1 (4%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 3 (11%) | 1 (4%) | 22 (81%) | 27 |
| Interferonopathy (Aicardi-Goutières and others) | 0 (0%) | 2 (29%) | 3 (43%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (14%) | 0 (0%) | 1 (14%) | 4 (57%) | 7 |
| Leukocyte adhesion deficiency | 3 (33%) | 9 (100%) | 8 (89%) | 1 (11%) | 2 (22%) | 2 (22%) | 1 (11%) | 0 (0%) | 4 (44%) | 1 (11%) | 9 (100%) | 9 |
| Mucocutaneous candidiasis | 10 (23%) | 37 (86%) | 32 (74%) | 1 (2%) | 0 (0%) | 3 (7%) | 3 (7%) | 3 (7%) | 11 (26%) | 4 (9%) | 42 (98%) | 43 |
| Neutropenia | 0 (0%) | 0 (0%) | 2 (100%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (100%) | 2 |
| NK cell defect | 1 (25%) | 3 (75%) | 4 (100%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (25%) | 4 (100%) | 4 |
| Omenn syndrome | 0 (0%) | 1 (100%) | 1 (100%) | 0 (0%) | 0 (0%) | 1 (100%) | 0 (0%) | 0 (0%) | 1 (100%) | 1 (100%) | 1 (100%) | 1 |
| Other immune deficiency - known cause | 6 (11%) | 13 (24%) | 44 (81%) | 0 (0%) | 0 (0%) | 4 (7%) | 1 (2%) | 1 (2%) | 11 (20%) | 3 (6%) | 46 (85%) | 54 |
| Other T-cell problems | 0 (0%) | 3 (43%) | 4 (57%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (14%) | 0 (0%) | 1 (14%) | 0 (0%) | 6 (86%) | 7 |
| Predisposition to severe viral infections | 11 (37%) | 21 (70%) | 26 (87%) | 0 (0%) | 2 (7%) | 4 (13%) | 3 (10%) | 3 (10%) | 7 (23%) | 3 (10%) | 26 (87%) | 30 |
| Severe combined immune deficiency (SCID) | 9 (14%) | 23 (35%) | 45 (68%) | 0 (0%) | 2 (3%) | 4 (6%) | 3 (5%) | 2 (3%) | 17 (26%) | 8 (12%) | 51 (77%) | 66 |
| Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells | 19 (20%) | 29 (30%) | 96 (99%) | 0 (0%) | 1 (1%) | 6 (6%) | 0 (0%) | 2 (2%) | 16 (16%) | 3 (3%) | 96 (99%) | 97 |
| Susceptibility to mycobacteria (MSMD) | 3 (38%) | 5 (62%) | 4 (50%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (12%) | 2 (25%) | 2 (25%) | 1 (12%) | 7 (88%) | 8 |
| TLR pathway abnormality | 0 (0%) | 1 (50%) | 1 (50%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (100%) | 2 (100%) | 0 (0%) | 2 (100%) | 2 |
| Transient hypogammaglobulinemia of infancy with normal numbers of b cells | 3 (21%) | 2 (14%) | 13 (93%) | 0 (0%) | 0 (0%) | 2 (14%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (14%) | 14 (100%) | 14 |
| Wiskott-Aldrich syndrome | 0 (0%) | 20 (37%) | 33 (61%) | 0 (0%) | 1 (2%) | 6 (11%) | 3 (6%) | 2 (4%) | 9 (17%) | 5 (9%) | 39 (72%) | 54 |
| Immunodeficiency | Urogenital | SSTI | Sino-pulmonary | Cardiac | Odontogenic | Ophthalmic | MSK | CNS | GI | Bloodstream | Any site | Total count (N = 3511) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Agammaglobulinemia | 18 (7%) | 92 (36%) | 221 (86%) | 0 (0%) | 1 (0%) | 67 (26%) | 25 (10%) | 34 (13%) | 66 (26%) | 29 (11%) | 235 (91%) | 257 |
| Ataxia telangiectasia | 1 (4%) | 3 (12%) | 21 (81%) | 0 (0%) | 0 (0%) | 2 (8%) | 1 (4%) | 1 (4%) | 8 (31%) | 3 (12%) | 24 (92%) | 26 |
| Autoimmune lymphoproliferative syndrome (ALPS) | 9 (14%) | 32 (50%) | 33 (52%) | 0 (0%) | 0 (0%) | 1 (2%) | 0 (0%) | 2 (3%) | 16 (25%) | 9 (14%) | 54 (84%) | 64 |
| Autoinflammatory disease | 1 (8%) | 3 (25%) | 5 (42%) | 0 (0%) | 0 (0%) | 2 (17%) | 0 (0%) | 1 (8%) | 1 (8%) | 0 (0%) | 9 (75%) | 12 |
| CHARGE syndrome | 1 (33%) | 1 (33%) | 2 (67%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (67%) | 3 (100%) | 3 |
| Chronic granulomatous disease | 13 (9%) | 115 (79%) | 123 (85%) | 0 (0%) | 5 (3%) | 8 (6%) | 17 (12%) | 14 (10%) | 75 (52%) | 15 (10%) | 143 (99%) | 145 |
| Combined immune deficiency | 5 (10%) | 25 (48%) | 40 (77%) | 1 (2%) | 0 (0%) | 11 (21%) | 3 (6%) | 5 (10%) | 12 (23%) | 12 (23%) | 43 (83%) | 52 |
| Common variable immune deficiency (CVID) | 242 (17%) | 381 (27%) | 1211 (86%) | 4 (0%) | 18 (1%) | 126 (9%) | 32 (2%) | 62 (4%) | 248 (18%) | 91 (6%) | 1265 (89%) | 1416 |
| Complement deficiency | 1 (4%) | 9 (35%) | 21 (81%) | 0 (0%) | 0 (0%) | 1 (4%) | 2 (8%) | 7 (27%) | 3 (12%) | 6 (23%) | 23 (88%) | 26 |
| DiGeorge syndrome | 22 (4%) | 34 (7%) | 157 (32%) | 7 (1%) | 0 (0%) | 11 (2%) | 2 (0%) | 1 (0%) | 11 (2%) | 19 (4%) | 171 (34%) | 496 |
| Dyskeratosis congenita | 0 (0%) | 0 (0%) | 1 (100%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (100%) | 1 |
| Ectodermal dysplasia with immunodeficiency (nemo and others) | 2 (8%) | 16 (67%) | 18 (75%) | 0 (0%) | 0 (0%) | 1 (4%) | 1 (4%) | 8 (33%) | 8 (33%) | 5 (21%) | 24 (100%) | 24 |
| HLH, including XLP and pigmentary disorders | 2 (12%) | 5 (31%) | 12 (75%) | 0 (0%) | 0 (0%) | 1 (6%) | 0 (0%) | 1 (6%) | 3 (19%) | 2 (12%) | 13 (81%) | 16 |
| Hyper IgE syndrome | 18 (19%) | 84 (88%) | 88 (92%) | 1 (1%) | 3 (3%) | 4 (4%) | 7 (7%) | 5 (5%) | 19 (20%) | 7 (7%) | 91 (95%) | 96 |
| Hyper IgM syndrome | 3 (6%) | 12 (26%) | 43 (91%) | 0 (0%) | 1 (2%) | 4 (9%) | 0 (0%) | 3 (6%) | 11 (23%) | 5 (11%) | 44 (94%) | 47 |
| Hypogammaglobulinemia | 34 (16%) | 56 (27%) | 162 (78%) | 0 (0%) | 2 (1%) | 10 (5%) | 3 (1%) | 1 (0%) | 23 (11%) | 6 (3%) | 173 (83%) | 209 |
| IgA deficiency | 8 (12%) | 15 (22%) | 63 (93%) | 0 (0%) | 0 (0%) | 4 (6%) | 1 (1%) | 3 (4%) | 16 (24%) | 1 (1%) | 66 (97%) | 68 |
| IgG subclass deficiency | 7 (27%) | 6 (23%) | 25 (96%) | 0 (0%) | 2 (8%) | 1 (4%) | 1 (4%) | 1 (4%) | 2 (8%) | 0 (0%) | 25 (96%) | 26 |
| Immune deficiency with syndromic features (not otherwise listed) | 4 (50%) | 3 (38%) | 6 (75%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (12%) | 1 (12%) | 8 (100%) | 8 |
| Immune dysregulation | 15 (20%) | 40 (53%) | 66 (88%) | 1 (1%) | 5 (7%) | 9 (12%) | 1 (1%) | 5 (7%) | 20 (27%) | 9 (12%) | 69 (92%) | 75 |
| Immunodeficiency unknown cause | 2 (11%) | 5 (26%) | 12 (63%) | 2 (11%) | 0 (0%) | 0 (0%) | 1 (5%) | 2 (11%) | 3 (16%) | 1 (5%) | 16 (84%) | 19 |
| Immunodeficiency with myelodysplasia (GATA2 and others) | 7 (26%) | 14 (52%) | 16 (59%) | 1 (4%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 3 (11%) | 1 (4%) | 22 (81%) | 27 |
| Interferonopathy (Aicardi-Goutières and others) | 0 (0%) | 2 (29%) | 3 (43%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (14%) | 0 (0%) | 1 (14%) | 4 (57%) | 7 |
| Leukocyte adhesion deficiency | 3 (33%) | 9 (100%) | 8 (89%) | 1 (11%) | 2 (22%) | 2 (22%) | 1 (11%) | 0 (0%) | 4 (44%) | 1 (11%) | 9 (100%) | 9 |
| Mucocutaneous candidiasis | 10 (23%) | 37 (86%) | 32 (74%) | 1 (2%) | 0 (0%) | 3 (7%) | 3 (7%) | 3 (7%) | 11 (26%) | 4 (9%) | 42 (98%) | 43 |
| Neutropenia | 0 (0%) | 0 (0%) | 2 (100%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (100%) | 2 |
| NK cell defect | 1 (25%) | 3 (75%) | 4 (100%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (25%) | 4 (100%) | 4 |
| Omenn syndrome | 0 (0%) | 1 (100%) | 1 (100%) | 0 (0%) | 0 (0%) | 1 (100%) | 0 (0%) | 0 (0%) | 1 (100%) | 1 (100%) | 1 (100%) | 1 |
| Other immune deficiency - known cause | 6 (11%) | 13 (24%) | 44 (81%) | 0 (0%) | 0 (0%) | 4 (7%) | 1 (2%) | 1 (2%) | 11 (20%) | 3 (6%) | 46 (85%) | 54 |
| Other T-cell problems | 0 (0%) | 3 (43%) | 4 (57%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (14%) | 0 (0%) | 1 (14%) | 0 (0%) | 6 (86%) | 7 |
| Predisposition to severe viral infections | 11 (37%) | 21 (70%) | 26 (87%) | 0 (0%) | 2 (7%) | 4 (13%) | 3 (10%) | 3 (10%) | 7 (23%) | 3 (10%) | 26 (87%) | 30 |
| Severe combined immune deficiency (SCID) | 9 (14%) | 23 (35%) | 45 (68%) | 0 (0%) | 2 (3%) | 4 (6%) | 3 (5%) | 2 (3%) | 17 (26%) | 8 (12%) | 51 (77%) | 66 |
| Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells | 19 (20%) | 29 (30%) | 96 (99%) | 0 (0%) | 1 (1%) | 6 (6%) | 0 (0%) | 2 (2%) | 16 (16%) | 3 (3%) | 96 (99%) | 97 |
| Susceptibility to mycobacteria (MSMD) | 3 (38%) | 5 (62%) | 4 (50%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (12%) | 2 (25%) | 2 (25%) | 1 (12%) | 7 (88%) | 8 |
| TLR pathway abnormality | 0 (0%) | 1 (50%) | 1 (50%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (100%) | 2 (100%) | 0 (0%) | 2 (100%) | 2 |
| Transient hypogammaglobulinemia of infancy with normal numbers of b cells | 3 (21%) | 2 (14%) | 13 (93%) | 0 (0%) | 0 (0%) | 2 (14%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (14%) | 14 (100%) | 14 |
| Wiskott-Aldrich syndrome | 0 (0%) | 20 (37%) | 33 (61%) | 0 (0%) | 1 (2%) | 6 (11%) | 3 (6%) | 2 (4%) | 9 (17%) | 5 (9%) | 39 (72%) | 54 |
Table 3.
Infection types in IEI
| Immunodeficiency | Bacterial | Viral | Fungal | Parasitic | Any Infection | Total count (N = 3511) |
|---|---|---|---|---|---|---|
| Agammaglobulinemia | 129 (50%) | 81 (32%) | 23 (9%) | 12 (5%) | 235 (91%) | 257 |
| Ataxia telangiectasia | 8 (31%) | 7 (27%) | 3 (12%) | 0 (0%) | 24 (92%) | 26 |
| Autoimmune lymphoproliferative syndrome (ALPS) | 17 (27%) | 22 (34%) | 39 (61%) | 3 (5%) | 54 (84%) | 64 |
| Autoinflammatory disease | 1 (8%) | 2 (17%) | 0 (0%) | 0 (0%) | 9 (75%) | 12 |
| CHARGE syndrome | 1 (33%) | 1 (33%) | 0 (0%) | 0 (0%) | 3 (100%) | 3 |
| Chronic granulomatous disease | 98 (68%) | 33 (23%) | 75 (52%) | 2 (1%) | 143 (99%) | 145 |
| Combined immune deficiency | 25 (48%) | 28 (54%) | 12 (23%) | 2 (4%) | 43 (83%) | 52 |
| Common variable immune deficiency (CVID) | 503 (36%) | 332 (23%) | 218 (15%) | 35 (2%) | 1265 (89%) | 1416 |
| Complement deficiency | 14 (54%) | 5 (19%) | 3 (12%) | 0 (0%) | 23 (88%) | 26 |
| DiGeorge syndrome | 51 (10%) | 53 (11%) | 29 (6%) | 0 (0%) | 171 (34%) | 496 |
| Dyskeratosis congenita | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (100%) | 1 |
| Ectodermal dysplasia with immunodeficiency (nemo and others) | 19 (79%) | 10 (42%) | 3 (12%) | 0 (0%) | 24 (100%) | 24 |
| HLH, including XLP and pigmentary disorders | 5 (31%) | 5 (31%) | 2 (12%) | 0 (0%) | 13 (81%) | 16 |
| Hyper IgE syndrome | 72 (75%) | 29 (30%) | 63 (66%) | 4 (4%) | 91 (95%) | 96 |
| Hyper IgM syndrome | 14 (30%) | 16 (34%) | 19 (40%) | 4 (9%) | 44 (94%) | 47 |
| Hypogammaglobulinemia | 70 (33%) | 51 (24%) | 26 (12%) | 0 (0%) | 173 (83%) | 209 |
| IgA deficiency | 24 (35%) | 13 (19%) | 5 (7%) | 0 (0%) | 66 (97%) | 68 |
| IgG subclass deficiency | 6 (23%) | 5 (19%) | 7 (27%) | 0 (0%) | 25 (96%) | 26 |
| Immune deficiency with syndromic features (not otherwise listed) | 7 (88%) | 4 (50%) | 0 (0%) | 0 (0%) | 8 (100%) | 8 |
| Immune dysregulation | 44 (59%) | 39 (52%) | 23 (31%) | 3 (4%) | 69 (92%) | 75 |
| Immunodeficiency unknown cause | 11 (58%) | 8 (42%) | 4 (21%) | 0 (0%) | 16 (84%) | 19 |
| Immunodeficiency with myelodysplasia (GATA2 and others) | 16 (59%) | 10 (37%) | 8 (30%) | 0 (0%) | 22 (81%) | 27 |
| Interferonopathy (Aicardi-Goutières and others) | 2 (29%) | 3 (43%) | 1 (14%) | 0 (0%) | 4 (57%) | 7 |
| Leukocyte adhesion deficiency | 9 (100%) | 6 (67%) | 4 (44%) | 0 (0%) | 9 (100%) | 9 |
| Mucocutaneous candidiasis | 23 (53%) | 20 (47%) | 38 (88%) | 1 (2%) | 42 (98%) | 43 |
| Neutropenia | 1 (50%) | 0 (0%) | 0 (0%) | 1 (50%) | 2 (100%) | 2 |
| NK cell defect | 2 (50%) | 3 (75%) | 2 (50%) | 0 (0%) | 4 (100%) | 4 |
| Omenn syndrome | 1 (100%) | 1 (100%) | 0 (0%) | 0 (0%) | 1 (100%) | 1 |
| Other immune deficiency - known cause | 26 (48%) | 23 (43%) | 6 (11%) | 1 (2%) | 46 (85%) | 54 |
| Other T-cell problems | 2 (29%) | 3 (43%) | 2 (29%) | 0 (0%) | 6 (86%) | 7 |
| Predisposition to severe viral infections | 17 (57%) | 21 (70%) | 13 (43%) | 3 (10%) | 26 (87%) | 30 |
| Severe combined immune deficiency (SCID) | 26 (39%) | 29 (44%) | 23 (35%) | 1 (2%) | 51 (77%) | 66 |
| Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells | 49 (51%) | 27 (28%) | 18 (19%) | 1 (1%) | 96 (99%) | 97 |
| Susceptibility to mycobacteria (MSMD) | 7 (88%) | 2 (25%) | 3 (38%) | 1 (12%) | 7 (88%) | 8 |
| TLR pathway abnormality | 1 (50%) | 1 (50%) | 1 (50%) | 0 (0%) | 2 (100%) | 2 |
| Transient hypogammaglobulinemia of infancy with normal numbers of b cells | 6 (43%) | 3 (21%) | 1 (7%) | 0 (0%) | 14 (100%) | 14 |
| Wiskott-Aldrich syndrome | 18 (33%) | 15 (28%) | 6 (11%) | 0 (0%) | 39 (72%) | 54 |
| Immunodeficiency | Bacterial | Viral | Fungal | Parasitic | Any Infection | Total count (N = 3511) |
|---|---|---|---|---|---|---|
| Agammaglobulinemia | 129 (50%) | 81 (32%) | 23 (9%) | 12 (5%) | 235 (91%) | 257 |
| Ataxia telangiectasia | 8 (31%) | 7 (27%) | 3 (12%) | 0 (0%) | 24 (92%) | 26 |
| Autoimmune lymphoproliferative syndrome (ALPS) | 17 (27%) | 22 (34%) | 39 (61%) | 3 (5%) | 54 (84%) | 64 |
| Autoinflammatory disease | 1 (8%) | 2 (17%) | 0 (0%) | 0 (0%) | 9 (75%) | 12 |
| CHARGE syndrome | 1 (33%) | 1 (33%) | 0 (0%) | 0 (0%) | 3 (100%) | 3 |
| Chronic granulomatous disease | 98 (68%) | 33 (23%) | 75 (52%) | 2 (1%) | 143 (99%) | 145 |
| Combined immune deficiency | 25 (48%) | 28 (54%) | 12 (23%) | 2 (4%) | 43 (83%) | 52 |
| Common variable immune deficiency (CVID) | 503 (36%) | 332 (23%) | 218 (15%) | 35 (2%) | 1265 (89%) | 1416 |
| Complement deficiency | 14 (54%) | 5 (19%) | 3 (12%) | 0 (0%) | 23 (88%) | 26 |
| DiGeorge syndrome | 51 (10%) | 53 (11%) | 29 (6%) | 0 (0%) | 171 (34%) | 496 |
| Dyskeratosis congenita | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (100%) | 1 |
| Ectodermal dysplasia with immunodeficiency (nemo and others) | 19 (79%) | 10 (42%) | 3 (12%) | 0 (0%) | 24 (100%) | 24 |
| HLH, including XLP and pigmentary disorders | 5 (31%) | 5 (31%) | 2 (12%) | 0 (0%) | 13 (81%) | 16 |
| Hyper IgE syndrome | 72 (75%) | 29 (30%) | 63 (66%) | 4 (4%) | 91 (95%) | 96 |
| Hyper IgM syndrome | 14 (30%) | 16 (34%) | 19 (40%) | 4 (9%) | 44 (94%) | 47 |
| Hypogammaglobulinemia | 70 (33%) | 51 (24%) | 26 (12%) | 0 (0%) | 173 (83%) | 209 |
| IgA deficiency | 24 (35%) | 13 (19%) | 5 (7%) | 0 (0%) | 66 (97%) | 68 |
| IgG subclass deficiency | 6 (23%) | 5 (19%) | 7 (27%) | 0 (0%) | 25 (96%) | 26 |
| Immune deficiency with syndromic features (not otherwise listed) | 7 (88%) | 4 (50%) | 0 (0%) | 0 (0%) | 8 (100%) | 8 |
| Immune dysregulation | 44 (59%) | 39 (52%) | 23 (31%) | 3 (4%) | 69 (92%) | 75 |
| Immunodeficiency unknown cause | 11 (58%) | 8 (42%) | 4 (21%) | 0 (0%) | 16 (84%) | 19 |
| Immunodeficiency with myelodysplasia (GATA2 and others) | 16 (59%) | 10 (37%) | 8 (30%) | 0 (0%) | 22 (81%) | 27 |
| Interferonopathy (Aicardi-Goutières and others) | 2 (29%) | 3 (43%) | 1 (14%) | 0 (0%) | 4 (57%) | 7 |
| Leukocyte adhesion deficiency | 9 (100%) | 6 (67%) | 4 (44%) | 0 (0%) | 9 (100%) | 9 |
| Mucocutaneous candidiasis | 23 (53%) | 20 (47%) | 38 (88%) | 1 (2%) | 42 (98%) | 43 |
| Neutropenia | 1 (50%) | 0 (0%) | 0 (0%) | 1 (50%) | 2 (100%) | 2 |
| NK cell defect | 2 (50%) | 3 (75%) | 2 (50%) | 0 (0%) | 4 (100%) | 4 |
| Omenn syndrome | 1 (100%) | 1 (100%) | 0 (0%) | 0 (0%) | 1 (100%) | 1 |
| Other immune deficiency - known cause | 26 (48%) | 23 (43%) | 6 (11%) | 1 (2%) | 46 (85%) | 54 |
| Other T-cell problems | 2 (29%) | 3 (43%) | 2 (29%) | 0 (0%) | 6 (86%) | 7 |
| Predisposition to severe viral infections | 17 (57%) | 21 (70%) | 13 (43%) | 3 (10%) | 26 (87%) | 30 |
| Severe combined immune deficiency (SCID) | 26 (39%) | 29 (44%) | 23 (35%) | 1 (2%) | 51 (77%) | 66 |
| Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells | 49 (51%) | 27 (28%) | 18 (19%) | 1 (1%) | 96 (99%) | 97 |
| Susceptibility to mycobacteria (MSMD) | 7 (88%) | 2 (25%) | 3 (38%) | 1 (12%) | 7 (88%) | 8 |
| TLR pathway abnormality | 1 (50%) | 1 (50%) | 1 (50%) | 0 (0%) | 2 (100%) | 2 |
| Transient hypogammaglobulinemia of infancy with normal numbers of b cells | 6 (43%) | 3 (21%) | 1 (7%) | 0 (0%) | 14 (100%) | 14 |
| Wiskott-Aldrich syndrome | 18 (33%) | 15 (28%) | 6 (11%) | 0 (0%) | 39 (72%) | 54 |
Table 4.
Malignancy in IEI
| Immunodeficiency | Hematologic | Solid / Lymphoma | Any Malignancy | Total count (N = 3511) |
|---|---|---|---|---|
| Agammaglobulinemia | 2 (1%) | 0 (0%) | 2 (1%) | 257 |
| Ataxia telangiectasia | 4 (15%) | 2 (8%) | 5 (19%) | 26 |
| Autoimmune lymphoproliferative syndrome (ALPS) | 3 (5%) | 1 (2%) | 4 (6%) | 64 |
| Autoinflammatory disease | 1 (8%) | 0 (0%) | 1 (8%) | 12 |
| CHARGE syndrome | 0 (0%) | 0 (0%) | 0 (0%) | 3 |
| Chronic granulomatous disease | 3 (2%) | 0 (0%) | 3 (2%) | 145 |
| Combined immune deficiency | 4 (8%) | 0 (0%) | 4 (8%) | 52 |
| Common variable immune deficiency (CVID) | 126 (9%) | 14 (1%) | 135 (10%) | 1416 |
| Complement deficiency | 0 (0%) | 0 (0%) | 0 (0%) | 26 |
| DiGeorge syndrome | 1 (0%) | 0 (0%) | 1 (0%) | 496 |
| Dyskeratosis congenita | 0 (0%) | 0 (0%) | 0 (0%) | 1 |
| Ectodermal dysplasia with immunodeficiency (nemo and others) | 0 (0%) | 0 (0%) | 0 (0%) | 24 |
| HLH, including XLP and pigmentary disorders | 0 (0%) | 0 (0%) | 0 (0%) | 16 |
| Hyper IgE syndrome | 7 (7%) | 1 (1%) | 8 (8%) | 96 |
| Hyper IgM syndrome | 3 (6%) | 0 (0%) | 3 (6%) | 47 |
| Hypogammaglobulinemia | 14 (7%) | 2 (1%) | 16 (8%) | 209 |
| IgA deficiency | 2 (3%) | 1 (1%) | 2 (3%) | 68 |
| IgG subclass deficiency | 2 (8%) | 0 (0%) | 2 (8%) | 26 |
| Immune deficiency with syndromic features (not otherwise listed) | 0 (0%) | 0 (0%) | 0 (0%) | 8 |
| Immune dysregulation | 6 (8%) | 1 (1%) | 6 (8%) | 75 |
| Immunodeficiency unknown cause | 3 (16%) | 1 (5%) | 3 (16%) | 19 |
| Immunodeficiency with myelodysplasia (GATA2 and others) | 9 (33%) | 9 (33%) | 15 (56%) | 27 |
| Interferonopathy (Aicardi-Goutières and others) | 1 (14%) | 0 (0%) | 1 (14%) | 7 |
| Leukocyte adhesion deficiency | 0 (0%) | 0 (0%) | 0 (0%) | 9 |
| Mucocutaneous candidiasis | 3 (7%) | 0 (0%) | 3 (7%) | 43 |
| Neutropenia | 0 (0%) | 1 (50%) | 1 (50%) | 2 |
| NK cell defect | 1 (25%) | 0 (0%) | 1 (25%) | 4 |
| Omenn syndrome | 0 (0%) | 0 (0%) | 0 (0%) | 1 |
| Other immune deficiency - known cause | 3 (6%) | 0 (0%) | 3 (6%) | 54 |
| Other T-cell problems | 0 (0%) | 0 (0%) | 0 (0%) | 7 |
| Predisposition to severe viral infections | 4 (13%) | 0 (0%) | 4 (13%) | 30 |
| Severe combined immune deficiency (SCID) | 11 (17%) | 0 (0%) | 11 (17%) | 66 |
| Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells | 9 (9%) | 0 (0%) | 9 (9%) | 97 |
| Susceptibility to mycobacteria (MSMD) | 0 (0%) | 0 (0%) | 0 (0%) | 8 |
| TLR pathway abnormality | 0 (0%) | 0 (0%) | 0 (0%) | 2 |
| Transient hypogammaglobulinemia of infancy with normal numbers of b cells | 0 (0%) | 0 (0%) | 0 (0%) | 14 |
| Wiskott-Aldrich syndrome | 4 (7%) | 2 (4%) | 6 (11%) | 54 |
| Immunodeficiency | Hematologic | Solid / Lymphoma | Any Malignancy | Total count (N = 3511) |
|---|---|---|---|---|
| Agammaglobulinemia | 2 (1%) | 0 (0%) | 2 (1%) | 257 |
| Ataxia telangiectasia | 4 (15%) | 2 (8%) | 5 (19%) | 26 |
| Autoimmune lymphoproliferative syndrome (ALPS) | 3 (5%) | 1 (2%) | 4 (6%) | 64 |
| Autoinflammatory disease | 1 (8%) | 0 (0%) | 1 (8%) | 12 |
| CHARGE syndrome | 0 (0%) | 0 (0%) | 0 (0%) | 3 |
| Chronic granulomatous disease | 3 (2%) | 0 (0%) | 3 (2%) | 145 |
| Combined immune deficiency | 4 (8%) | 0 (0%) | 4 (8%) | 52 |
| Common variable immune deficiency (CVID) | 126 (9%) | 14 (1%) | 135 (10%) | 1416 |
| Complement deficiency | 0 (0%) | 0 (0%) | 0 (0%) | 26 |
| DiGeorge syndrome | 1 (0%) | 0 (0%) | 1 (0%) | 496 |
| Dyskeratosis congenita | 0 (0%) | 0 (0%) | 0 (0%) | 1 |
| Ectodermal dysplasia with immunodeficiency (nemo and others) | 0 (0%) | 0 (0%) | 0 (0%) | 24 |
| HLH, including XLP and pigmentary disorders | 0 (0%) | 0 (0%) | 0 (0%) | 16 |
| Hyper IgE syndrome | 7 (7%) | 1 (1%) | 8 (8%) | 96 |
| Hyper IgM syndrome | 3 (6%) | 0 (0%) | 3 (6%) | 47 |
| Hypogammaglobulinemia | 14 (7%) | 2 (1%) | 16 (8%) | 209 |
| IgA deficiency | 2 (3%) | 1 (1%) | 2 (3%) | 68 |
| IgG subclass deficiency | 2 (8%) | 0 (0%) | 2 (8%) | 26 |
| Immune deficiency with syndromic features (not otherwise listed) | 0 (0%) | 0 (0%) | 0 (0%) | 8 |
| Immune dysregulation | 6 (8%) | 1 (1%) | 6 (8%) | 75 |
| Immunodeficiency unknown cause | 3 (16%) | 1 (5%) | 3 (16%) | 19 |
| Immunodeficiency with myelodysplasia (GATA2 and others) | 9 (33%) | 9 (33%) | 15 (56%) | 27 |
| Interferonopathy (Aicardi-Goutières and others) | 1 (14%) | 0 (0%) | 1 (14%) | 7 |
| Leukocyte adhesion deficiency | 0 (0%) | 0 (0%) | 0 (0%) | 9 |
| Mucocutaneous candidiasis | 3 (7%) | 0 (0%) | 3 (7%) | 43 |
| Neutropenia | 0 (0%) | 1 (50%) | 1 (50%) | 2 |
| NK cell defect | 1 (25%) | 0 (0%) | 1 (25%) | 4 |
| Omenn syndrome | 0 (0%) | 0 (0%) | 0 (0%) | 1 |
| Other immune deficiency - known cause | 3 (6%) | 0 (0%) | 3 (6%) | 54 |
| Other T-cell problems | 0 (0%) | 0 (0%) | 0 (0%) | 7 |
| Predisposition to severe viral infections | 4 (13%) | 0 (0%) | 4 (13%) | 30 |
| Severe combined immune deficiency (SCID) | 11 (17%) | 0 (0%) | 11 (17%) | 66 |
| Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells | 9 (9%) | 0 (0%) | 9 (9%) | 97 |
| Susceptibility to mycobacteria (MSMD) | 0 (0%) | 0 (0%) | 0 (0%) | 8 |
| TLR pathway abnormality | 0 (0%) | 0 (0%) | 0 (0%) | 2 |
| Transient hypogammaglobulinemia of infancy with normal numbers of b cells | 0 (0%) | 0 (0%) | 0 (0%) | 14 |
| Wiskott-Aldrich syndrome | 4 (7%) | 2 (4%) | 6 (11%) | 54 |
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