1 (264) | 5.0 | f | Chronic wet cough Recurrent serous otitis media Recurrent Haemophilus influenzae infections Less symptoms on antibiotics | 214¶ | Inconclusive | Suspicious for PCD | DNALI1 missing or strongly reduced (ALI) | IDA defect & tubular disorganisation >50% (ALI) class 1 defect, diagnostic for PCD | No likely pathogenic or pathogenic variant in 43 genes tested (2020), negative | 7855 | PCD diagnosed hallmark (class 1) TEM defect | PCD positive HSVM repeatedly suggestive hallmark (class 1) TEM defect | PCD positive HSVM suggestive class 1 TEM defect | Clinics TEM cell culture |
2 (290) | 17.4 | f | Recurrent rhinitis Rhinopolyps Recurrent infections with Haemophilus influenza Serous otitis media | 2 2 0.5 1.6 | High evidence for PCD | High evidence for PCD | DNAH11 repeatedly missing (ALI) | Non-diagnostic (ALI) | Monoallelic DNAH11 mutation, non-diagnostic, classified likely pathogenic (4) if biallelic | 6855 | PCD diagnosed suggestive clinics nNO repeatedly low | PCD highly likely nNO repeatedly low HSVM repeatedly suggestive | PCD highly likely nNO repeatedly low HSVM suggestive IF with DNAH11 missing | Clinics low nNO HSVM cell culture IF |
3 (284) | 15.0 | m | Situs inversus totalis Chronic rhinitis Chronic wet cough | 40 40 | High evidence for PCD | High evidence for PCD | DNAH11 missing (ALI) | Non-diagnostic (fresh & ALI) | Biallelic DNAH11 mutation, non-diagnostic, classified unknown significance (3) | 7855 | PCD diagnosed suggestive clinics nNO repeatedly low | PCD highly likely nNO repeatedly low HSVM repeatedly suggestive | PCD highly likely HSVM suggestive IF with DNAH11 missing | Clinics HSVM cell culture IF |
5 (266) | 15.0 | m | Serous otitis media Chronic rhinitis Recurrent low nNO | 21 6 10 9.5+ | High evidence for PCD | High evidence for PCD | DNAH11 missing (ALI) | Non-diagnostic (fresh & ALI) | Biallelic DNAH11 mutation, compound heterozygous, diagnostic, classified pathogenic (5) & likely pathogenic (4) | 7908 | PCD diagnosed suggestive clinics nNO repeatedly low genetics | PCD highly likely nNO repeatedly low HSVM repeatedly suggestive genetics | PCD highly likely HSVM suggestive IF with DNAH11 missing genetics | Clinics low nNO HSVM cell culture IF genetics |
6 (267) | 1.4 | m | Situs inversus totalis Chronic rhinitis | 4.5 ¶,+,§,f | Inconclusive | High evidence for PCD | DNAH11 missing (fresh) | Non-diagnostic | Biallelic DNAH11 mutation, diagnostic, classified pathogenic (5) | 5855 | PCD diagnosed (nNO low) confirmed genetics | PCD positive HSVM suggestive confirmed genetics | PCD positive HSVM suggestive IF with DNAH11 missing confirmed genetics | Clinics HSVM cell culture IF genetics |
7 (298) | 2.8 | m | Situs inversus totalis NRDS Nasal secretion Productive cough | 5 29.5¶,+ | PCD likely | Cell culture not successful | Inconclusive | - | Biallelic DNAH5 mutation, diagnostic, classified pathogenic (5) | 3925 | PCD diagnosed nNO repeatedlylow¶ confirmed genetics | PCD positive HSVM suggestive confirmed genetics | PCD positive HSVM suggestive confirmed genetics | Clinics genetics |
8 (318) | 16.9 | f | Situs inversus totalis Chronic wet cough | 205 163 | PCD likely | High evidence for PCD | DNAH11 missing (ALI) | - | Biallelic DNAH11 mutation, diagnostic, classified pathogenic (5) & likely pathogenic (4) | 4855 | PCD diagnosed suggestive clinics confirmed genetics | PCD positive suggestive clinics HSVM repeatedly suggestive confirmed genetics | PCD positive suggestive clinics HSVM pathological IF with DNAH11 missing confirmed genetics | Clinics IF cell culture genetics |
10 (338) | 14.1 | f | Chronic purulent cough Chronic rhinitis obstructive & restrictive ventilation disorder NRDS Positive family history (mother 11, brother 12) | 7+,§ | High evidence for PCD | High evidence for PCD | DNAH5 completely missing (fresh and ALI) | ODA & IDA missing >50% (ALI) class 1 defect, diagnostic for PCD | - | 2877 | PCD diagnosed nNO low hallmark (class 1) TEM defect | PCD positive nNO low HSVM repeatedly suggestive hallmark (class 1) TEM defect | PCD positive HSVM suggestive class 1 TEM defect IF with DNAH5 missing | HSVM cell culture IF TEM |
11 (339) | 42.4 | f | Chronic purulent cough Situs inversus totalis Bronchiectasis (mother of patients 10 & 12) | - | Inconclusive | High evidence for PCD | DNAH5 completely missing (fresh and ALI) | ODA & IDA missing >50% (ALI) class 1 defect, diagnostic for PCD | - | 2802 | PCD diagnosed hallmark (class 1) TEM defect | PCD positive HSVM repeatedly suggestive hallmark (class 1) TEM defect | PCD positive HSVM suggestive class 1 TEM defect IF with DNAH5 missing | HSVM cell culture IF TEM |
12 (354) | 9.6 | m | Chronic purulent cough Chronic rhinitis Positive family history (mother 11, sister 10) | 7+,§ | High evidence for PCD | Cell culture not successful | Inconclusive | ODA & IDA missing >50% (fresh) class 1 defect, diagnostic for PCD | - | 2925 | PCD diagnosed nNO low hallmark (class 1) TEM defect | PCD positive nNO low HSVM repeatedly suggestive hallmark (class 1) TEM defect | PCD positive HSVM suggestive class 1 TEM defect | HSVM TEM |
13 (343) | 17.4 | m | Chronic wet cough Chronic rhinitis and nasal obstruction Positive family history | 5 9 2+ | PCD likely | PCD likely | All proteins present## | - | Biallelic HYDIN mutation, diagnostic, classified pathogenic (5) | 4855 | PCD diagnosed nNO repeatedly low confirmed genetics | PCD positive nNO low HSVM repeatedly suggestive confirmed genetics | PCD positive nNO low HSVM suggestive confirmed genetics | Clinics nNO genetics |
20 (346) | 66.0 | f | Situs inversus totalis Positive family history (sister of 21, 22 & 23) Chronic rhinitis Chronic wet cough Nasal polyposis Recurrent sinusitis Bronchiectasis Shortness of breath | 9+,§ | High evidence for PCD | High evidence for PCD | DNAH11 missing (ALI) | Non-diagnostic | Biallelic DNAH11 mutation, diagnostic, classified likely pathogenic (4) | 5855 | PCD diagnosed suggestive clinics nNO low confirmed genetics | PCD positive nNO low HSVM repeatedly suggestive confirmed genetics | PCD positive nNO low HSVM suggestive IF with DNAH11 missing confirmed genetics | HSVM cell culture IF genetics |
21 (347) | 65.0 | f | Positive family history (sister of 20, 22 & 23) Chronic rhinitis Chronic cough Subfertility | 9+,§ | High evidence for PCD | High evidence for PCD | DNAH11 missing (ALI) | Non-diagnostic (ALI) | Biallelic DNAH11 mutation, diagnostic, classified likely pathogenic (4) | 5855 | PCD diagnosed suggestive clinics nNO low confirmed genetics | PCD positive nNO low HSVM repeatedly suggestive confirmed genetics | PCD positive nNO low HSVM suggestive IF with DNAH11 missing confirmed genetics | HSVM cell culture IF genetics |
22 (348) | 67.8 | m | Positive family history (sister of 20, 21 & 23) Chronic wet cough Nasal polyposis Chronic rhinitis | 1+,§ | High evidence for PCD | High evidence for PCD | DNAH11 missing (ALI) | Non-diagnostic (ALI) | Biallelic DNAH11 mutation, diagnostic, classified likely pathogenic (4) | 5855 | PCD diagnosed suggestive clinics nNO low confirmed genetics | PCD positive nNO low HSVM repeatedly suggestive confirmed genetics | PCD positive nNO low HSVM suggestive IF with DNAH11 missing confirmed genetics | HSVM cell culture IF genetics |
23 (349) | 68.9 | f | Positive family history (sister of 20, 21 & 22) Chronic rhinitis Chronic wet cough | 5.5+,§ | High evidence for PCD | High evidence for PCD | DNAH11 missing (ALI) | Non-diagnostic (ALI) | Biallelic DNAH11 mutation, diagnostic, classified likely pathogenic (4) | 5855 | PCD diagnosed suggestive clinics nNO low confirmed genetics | PCD positive nNO low HSVM repeatedly suggestive confirmed genetics | PCD positive nNO low HSVM suggestive IF with DNAH11 missing confirmed genetics | HSVM cell culture IF genetics |
24 (359) | 0.1 | f | Situs inversus totalis NRDS Chronic nasal secretion Chronic productive cough | <1+,§,□ | High evidence for PCD | High evidence for PCD | DNAH5, DNAH9, DNAH11, DNAI1, DNAI2 missing (ALI) | - | Not yet performed, brother with diagnostic, biallelic DNAH5-mutation | 2014 | PCD diagnosed suggestive clinics (nNO low) genetics unclear (brother with confirmed mutation) | PCD highly likely HSVM suggestive | PCD highly likely HSVM suggestive IF with proteins missing | HSVM cell culture IF (genetics) |