Demographic and clinical characteristics of MyD88- and IRAK-4–deficient patients with SARS-CoV-2 infection
| Kindred/Patient . | Age (yr) and gender . | Ancestry/country . | IEI . | Pre-existing comorbidities . | Feverb (d/peak)/symptoms . | Hospital admissionc (d) . | ARDS/ICU admissiond (d) . | Oxygen therapye/days on oxygen therapy (BA)f . | Other treatments . | Severity grade (CHGE score) . | Death . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P1 | 17 (F) | Roma/Spain | MyD88 | Lung calcifications | Yes (9/38.3°C)/Dry cough, odynophagia | Yes (7) | No/No | No/(NA) | Antibiotics, sGC | Moderate | No |
| A/P2 | 19 (M) | Roma/Spain | MyD88 | Obesity (RF)a | Yes (4/38.2°C)/Dry cough, odynophagia | Yes (5) | No/No | cNC (max. 2 Lpm)/(4/3) | Antibiotics, remdesivir, sGC | Severe | No |
| B/P3 | 6 (M) | Roma/Spain | MyD88 | No | No/Dry cough | No | No/No | No/(NA) | No | Mild/Non-confirmed pneumonia | No |
| C/P4 | 1.5 (M) | Roma/Spain | MyD88 | No | Yes (1/38°C)/No | Yes (5) | No/No | No/(NA) | Antibiotics | Mild/Non-confirmed pneumonia | No |
| D/P5 | 6.5 (M) | Roma/Belgium | MyD88 | No | Yes (4/ND)/Cough, rhinorrhea, headache, diarrhea | Yes (9) | No/No | cNC (max. 2 Lpm)/(5/4) | Antibiotics | Severe | No |
| E/P6 | 16 (F) | White, not Hispanic/USA | MyD88 | Overweight | Yes (8/39.4°C)/ND | Yes (21) | Yes/Yes (19) | iMV/(3/11) | Antibiotics, hydroxychloroquine, sGC, tocilizumab, remdesivir | Critical | No |
| E/P7 | 15 (F) | White, not Hispanic/USA | MyD88 | Overweight | Yes (5/40.9°C)/ND | Yes (30) | Yes/Yes (28) | iMV, ECMO/(3/13) | Antibiotics, antifungal drugs, remdesivir, hydroxychloroquine, sGC, tocilizumab | Critical | No |
| E/P8 | 12 (M) | White, not Hispanic/USA | MyD88 | Obesity (RF) | Yes (3/39.0°C)/ND | Yes (7) | No/Yes (5, for observation) | No/(NA) | Antibiotics, hydroxychloroquine | Moderate | No |
| F/P9 | 14 (M) | White, not Hispanic/USA | MyD88 | Overweight | Yes (5/40.0°C)/ND | Yes (7) | No/Yes (1) | hfNC/(3/5) | Antibiotics, remdesivir, sGC | Critical | No |
| F/P10 | 9 (M) | White, not Hispanic/USA | MyD88 | No | Yes (3/39.5°C)/ND | Yes (11) | No/No | cNC (max. 3 Lpm)/(6/3) | Antibiotics, remdesivir sGC, baricitinib | Severe | No |
| G/P11 | 8 (M) | Roma/Italy | MyD88 | No | No/NA | No | No/No | No/(NA) | No | Silent | No |
| H/P12 | 8 (M) | Roma/Germany | MyD88 | No | Yes (4/39.8 °C)/Cough | Yes (10) | No/No | Indirect oronasal oxygen (max. 3 Lpm)/(2/3) | Antibiotics, sGC, IgRT | Severe | No |
| I/P13 | 13 (M) | Roma/Switzerland | MyD88 | Epilepsy | Yes (4/39°C)/Cough, sore throat, headache | Yes (4) | No/No | No/(NA) | Antibiotics | Moderate | No |
| J/P14 | 1.2 (M) | Roma/Spain | MyD88 | No | Yes (10/38.2°C)/ Diarrhea | Yes (25) | Yes/Yes (17) | iMV/(7/16) | Antibiotics, sGC | Critical | No |
| J/P15 | 0.17 (M) | Roma/Spain | MyD88 | No | Yes (3/38°C) | Yes (17) | Yes/Yes (10) | iMV/(4/13) | Antibiotics, remdesivir, sGC | Critical | No |
| L/P16 | 24 (M) | White, not Hispanic/Spain | IRAK4 | Eosinophilic esophagitis, allergic rhinosinusitis, nasal polyposis | Yes (7/39°C)/Arthromyalgia, cough, dyspnea | Yes (5) | No/No | No/(NA) | Antibiotics, tenofovir, sGC | Moderate | No |
| M/P17 | 23 (M) | White, not Hispanic/USA | IRAK4 | Restrictive lung disease Neurocognitive delay (RF) | Yes (94/ND)/Hypothermia (34.8°C on admission) | Yes (94) | Yes/Yes (23) | iMV (family declined ECMO)/ (ND/94) | Antibiotics, remdesivir, sGC | Critical | Yes |
| N/P18 | 15 (M) | White, not Hispanic/Morocco | IRAK4 | No | No (1/37.5°C)/ND | Yes (3) | No/No | No/(NA) | Antibiotics, hydroxychloroquine | Moderate | No |
| O/P19 | 14 (M) | White, not Hispanic/Germany | IRAK4 | Neutropenia (700–1,540/mm3 baseline) | Yes (3/39.4°C)/Cough, nasal congestion | Yes (4) | No | No/(NA) | Antibiotics, casirivimab + imdevimab | Moderate | No |
| P/P20 | 6 (M) | South Asian/Canada | IRAK4 | No | Yes (2/38.5°C) | No | No/No | No/(NA) | No | Mild/Non-confirmed pneumonia | No |
| P/P21 | 3 (M) | South Asian/Canada | IRAK4 | No | Yes (2/38.5°C) | No | No/No | No/(NA) | No | Mild/Non-confirmed pneumonia | No |
| Q/P22 | 8 (F) | South Asian/Belgium | IRAK4 | No | No | No | No/No | No (NA) | No | Mild/Non-confirmed pneumonia | No |
| Kindred/Patient . | Age (yr) and gender . | Ancestry/country . | IEI . | Pre-existing comorbidities . | Feverb (d/peak)/symptoms . | Hospital admissionc (d) . | ARDS/ICU admissiond (d) . | Oxygen therapye/days on oxygen therapy (BA)f . | Other treatments . | Severity grade (CHGE score) . | Death . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P1 | 17 (F) | Roma/Spain | MyD88 | Lung calcifications | Yes (9/38.3°C)/Dry cough, odynophagia | Yes (7) | No/No | No/(NA) | Antibiotics, sGC | Moderate | No |
| A/P2 | 19 (M) | Roma/Spain | MyD88 | Obesity (RF)a | Yes (4/38.2°C)/Dry cough, odynophagia | Yes (5) | No/No | cNC (max. 2 Lpm)/(4/3) | Antibiotics, remdesivir, sGC | Severe | No |
| B/P3 | 6 (M) | Roma/Spain | MyD88 | No | No/Dry cough | No | No/No | No/(NA) | No | Mild/Non-confirmed pneumonia | No |
| C/P4 | 1.5 (M) | Roma/Spain | MyD88 | No | Yes (1/38°C)/No | Yes (5) | No/No | No/(NA) | Antibiotics | Mild/Non-confirmed pneumonia | No |
| D/P5 | 6.5 (M) | Roma/Belgium | MyD88 | No | Yes (4/ND)/Cough, rhinorrhea, headache, diarrhea | Yes (9) | No/No | cNC (max. 2 Lpm)/(5/4) | Antibiotics | Severe | No |
| E/P6 | 16 (F) | White, not Hispanic/USA | MyD88 | Overweight | Yes (8/39.4°C)/ND | Yes (21) | Yes/Yes (19) | iMV/(3/11) | Antibiotics, hydroxychloroquine, sGC, tocilizumab, remdesivir | Critical | No |
| E/P7 | 15 (F) | White, not Hispanic/USA | MyD88 | Overweight | Yes (5/40.9°C)/ND | Yes (30) | Yes/Yes (28) | iMV, ECMO/(3/13) | Antibiotics, antifungal drugs, remdesivir, hydroxychloroquine, sGC, tocilizumab | Critical | No |
| E/P8 | 12 (M) | White, not Hispanic/USA | MyD88 | Obesity (RF) | Yes (3/39.0°C)/ND | Yes (7) | No/Yes (5, for observation) | No/(NA) | Antibiotics, hydroxychloroquine | Moderate | No |
| F/P9 | 14 (M) | White, not Hispanic/USA | MyD88 | Overweight | Yes (5/40.0°C)/ND | Yes (7) | No/Yes (1) | hfNC/(3/5) | Antibiotics, remdesivir, sGC | Critical | No |
| F/P10 | 9 (M) | White, not Hispanic/USA | MyD88 | No | Yes (3/39.5°C)/ND | Yes (11) | No/No | cNC (max. 3 Lpm)/(6/3) | Antibiotics, remdesivir sGC, baricitinib | Severe | No |
| G/P11 | 8 (M) | Roma/Italy | MyD88 | No | No/NA | No | No/No | No/(NA) | No | Silent | No |
| H/P12 | 8 (M) | Roma/Germany | MyD88 | No | Yes (4/39.8 °C)/Cough | Yes (10) | No/No | Indirect oronasal oxygen (max. 3 Lpm)/(2/3) | Antibiotics, sGC, IgRT | Severe | No |
| I/P13 | 13 (M) | Roma/Switzerland | MyD88 | Epilepsy | Yes (4/39°C)/Cough, sore throat, headache | Yes (4) | No/No | No/(NA) | Antibiotics | Moderate | No |
| J/P14 | 1.2 (M) | Roma/Spain | MyD88 | No | Yes (10/38.2°C)/ Diarrhea | Yes (25) | Yes/Yes (17) | iMV/(7/16) | Antibiotics, sGC | Critical | No |
| J/P15 | 0.17 (M) | Roma/Spain | MyD88 | No | Yes (3/38°C) | Yes (17) | Yes/Yes (10) | iMV/(4/13) | Antibiotics, remdesivir, sGC | Critical | No |
| L/P16 | 24 (M) | White, not Hispanic/Spain | IRAK4 | Eosinophilic esophagitis, allergic rhinosinusitis, nasal polyposis | Yes (7/39°C)/Arthromyalgia, cough, dyspnea | Yes (5) | No/No | No/(NA) | Antibiotics, tenofovir, sGC | Moderate | No |
| M/P17 | 23 (M) | White, not Hispanic/USA | IRAK4 | Restrictive lung disease Neurocognitive delay (RF) | Yes (94/ND)/Hypothermia (34.8°C on admission) | Yes (94) | Yes/Yes (23) | iMV (family declined ECMO)/ (ND/94) | Antibiotics, remdesivir, sGC | Critical | Yes |
| N/P18 | 15 (M) | White, not Hispanic/Morocco | IRAK4 | No | No (1/37.5°C)/ND | Yes (3) | No/No | No/(NA) | Antibiotics, hydroxychloroquine | Moderate | No |
| O/P19 | 14 (M) | White, not Hispanic/Germany | IRAK4 | Neutropenia (700–1,540/mm3 baseline) | Yes (3/39.4°C)/Cough, nasal congestion | Yes (4) | No | No/(NA) | Antibiotics, casirivimab + imdevimab | Moderate | No |
| P/P20 | 6 (M) | South Asian/Canada | IRAK4 | No | Yes (2/38.5°C) | No | No/No | No/(NA) | No | Mild/Non-confirmed pneumonia | No |
| P/P21 | 3 (M) | South Asian/Canada | IRAK4 | No | Yes (2/38.5°C) | No | No/No | No/(NA) | No | Mild/Non-confirmed pneumonia | No |
| Q/P22 | 8 (F) | South Asian/Belgium | IRAK4 | No | No | No | No/No | No (NA) | No | Mild/Non-confirmed pneumonia | No |
P, patient; M, male, F, female; cNC, conventional nasal cannula; iMV, invasive mechanical ventilation; hfNC, high flow nasal cannula; Lpm, liters per minute; BA, before admission; sGC, systemic glucocorticoids; NA, not applicable; ND, no data.
RF indicates when the documented comorbidity is a recognized risk factor for severe COVID-19.
Fever: Yes or no (days of fever/maximum temperature registered).
Hospital admission: Yes or no (days of hospital stay [including general ward and ICU]).
Patient with ARDS: Yes or no/Admitted to ICU: Yes or no (total number of days hospitalized in the ICU).
Oxygen support: Type of oxygen support (higher support) or no.
(Days from the onset of the first symptoms until the patient needed oxygen therapy/total number of days with oxygen therapy).