Table 1 Clinical characteristics of the included patients
From: Primary immunodeficiency associated with chromosomal aberration – an ESID survey
Nr | Sex | Age (yrs)1 | Genetics | Immunological presentation2 | Other clinical presentations3 | Other symptoms |
|---|---|---|---|---|---|---|
1 | M | 15.2 | 46, XY, dup(6) (p12.2p21.31) | Airways | Developmental delay Dysmorphic features Microcephaly | Prematurity 36 weeks Tracheostomy Feeding difficulties Infantile pyloric stenosis Pulmonary congestion Intractable diarrhoea |
2(a) | M | 3.4 | 46, XY.ish der(16)t(16;19) (p13.3;p13.3) arr[hg19] 16p13.3(106 271–1 024 153)x1, 19p13.3 (327 273–6 887 622)x3 | Failure to thrive | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features Microcephaly Growth retardation | Bilateral inguinal hernia Horse shoe kidney Hypospadia, hydrocele Maldescensus testis |
3(a) | M | 9.4 | 46, XY.ish der(14)t(14;19) (p11.2;p13.2) de novo; arr[hg19] 19p13.3p13.2(90 897–7 300 043)x3 | Unusual infections | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features Microcephaly Growth retardation | Bilateral incarcerated inguinal hernia Congenital hip dysplasia Perineal hypospadia/penoscrotal fistula Severe osteopenia Sensorineurinal hearing loss Epilepsy |
4 | M | 5.6 | 46, XY, del(18) (p11.2) | Airways | Ataxia, paresis or other motor disability Growth retardation | na |
5 | M | 12.0 | 47, XY, +13 | Airways | Developmental delay Growth retardation | Sepsis Seizures Gastroesophageal reflux disease Loss of vision |
6 | F | 6.1 | 46, XX, del(16) (p11.2) | Airways | Developmental delay Dysmorphic features | Obesity Autism BCGosis |
7 | M | 5.1 | 46, XY, del(2) (q33.2) | AI disease | Developmental delay Dysmorphic features | Cleft palate PDA Splenomegaly Auto-immune hemolytic anemia |
8 | M | 1.0 | No full karyotype available Array CGH : gain of 144kB in 9p24.3 and loss of 15MB in 10q26.11.q26.3 | Unusual infections | Developmental delay Dysmorphic features Microcephaly Growth retardation | Duodenal atresia PDA Micropenis, gonadal agenesia |
9 | F | 5.2 | 46, XX, del(18) (q22) | AI disease | Developmental delay Dysmorphic features | Auto-immune polyendocrine syndrome type II with: Thyroiditis Vitiligo Pernicious anemia Type 1 diabetes mellitus |
10 | F | 1.4 | 46, XX, arr[hg19] 16p11.2 (29, 567, 295-30, 177, 916)x1 dn | Failure to thrive | Developmental delay Growth retardation | Recurrent fever |
11 | F | 69.2 | 45, X | Airways | Dysmorphic features Growth retardation | Schwannoma Hearing loss |
12 | F | 6.5 | Airways | Developmental delay Growth retardation | Currarino syndrome | |
13 | F | 41.6 | 45, X | Unusual infections | Growth retardation | na |
14 | M | 20.1 | 46, XY, der(X)t(X;18) (q28;q23) (MECP2 duplication) | Airways | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features | Vitiligo Bronchiectasis Small intestinal villous atrophy |
15(b) | M | 7.5 | 46, XY, r(18)(p11.2q23) [97]/45, XY, -18 [3] | Airways | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features Microcephaly Growth retardation | ASD II, VSD Micropenis |
16(c) | F | 47.7 | arr[hg19] 11q24.2q25 (126, 074, 297-134, 927, 114)x1 | Airways | Developmental delay Dysmorphic features Atopic eczema | VSD Infertility HPV associated giant condylomata Hypothyroid Idiopathic angio-edema Severe asthma Hypersplenism Obesity, type II diabetes Bronchiectasis |
17(d) | M | 22.3 | 46, XY, der(18)t(10p;18q) with 18q22.3–q23 deletion and partial trisomy of 10pter | Airways | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features Growth retardation | Hypothyroid (subclinical) Pulmonary valve stenosis |
18(e) | F | 29.3 | 46, XX, t(12;14) (p11.2;q13) | AI disease | Atopic eczema | Samter's triad* ALL Migraine Recurrent herpes labialis HPV associated condylomata Multiple allergies |
19(e) | F | 4.9 | 46, XX, t(12;14) (p11.2;q13) | Airways | None | na |
20(d) | F | 28.2 | 46, XX, der(18)t(10p;18q) with 18q22.3–q23 deletion and partial trisomy of 10pter | Airways | Ataxia, paresis or other motor disability Dysmorphic features Atopic eczema | Thymus hyperplasia Atopy Polyarticular JIA |
21 | F | 31.3 | 46, XX, arr[hg19] 15q25.2 (83, 214, 012-84, 776, 990)x1 | Airways | None | Allergy Epilepsy Asthma Cholesteatoma Recurrent monoarthritis |
22 | M | 34.3 | 46, XY, inv(10)(q21q23) | AI disease | None | Asymptomatic |
23(f) | F | 6.9 | 46, XX, del(19)(p13.13) | Airways | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features Microcephaly Growth retardation | IUGR Epilepsy |
24(f) | M | 9.6 | 46, XY, r(18) | AI disease | Developmental delay Dysmorphic features Growth retardation Hypopigmentation | Panniculitis with lipodystrophy Auto-immune hypothyroidism Vitiligo Chronic urticaria Subaortic stenosis |
25(g) | M | 16.8 | 46, XY, der(11)dup(11) (q22q23)del(q24.3) | Airways | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features Atopic eczema Hair and/or nail abnormalities | na |
26 | M | 3.7 | No full karyotype available arr[hg19]11p12-p11.12 (38.090.281-49.257.082)x1 | Airways | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features | Defective absorption folinic acid |
27 | F | 10.3 | 46, XX, del(11)(q11) | Failure to thrive | Developmental delay Dysmorphic features Growth retardation Atopic eczema | na |
28 | F | 5.9 | 49, XXXXX | Pyogenic infections | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features | PS and ASD Hypermobility Radio-ulnar synosthosis |
29 | M | 15.1 | 46, XY.ish del(X) (p11.3p11.3) (RP4-628F15+, RP11-245M24 dim, RP6-99M1-, RP4-689N3-, RP11-1409+)mat | Failure to thrive | Developmental delay Microcephaly Growth retardation | Visual impairment Retinitis pigmentosa |
30 | M | 9.4 | 46, XY, r(6) | Airways | Developmental delay Dysmorphic features Microcephaly Growth retardation | Gastro-oesofageal reflux Dilated cardiomyopathy and small VSD |
31(h) | F | 12.8 | 46, XX, del(18)(p11.1) | Airways | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features Growth retardation | Type I diabetes mellitus Growth hormone deficiency Autoimmune thyroiditis Pectus excavatum Retrognathia with absent maxillary chondyles |
32 | M | 6.8 | 46, XY, del(7)(q22.3 q31.3) | Airways | Developmental delay Dysmorphic features | na |
33 | F | 14.7 | 47, XX, +der(22)t(11;22) (q23;q11) mat (partial trisomy 11q) | Airways | Developmental delay Ataxia, paresis or other motor disability | Palatoschizis, preauricular tags Anus atresia Urolithiasis |
34 | F | 7.9 | 46, XX.arr snp 2p23.1 (SNP_A-2078092->SNP_A-2248377)x1 mat | Same pathogen | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features | Mitochondrial dysfunction Acracyanosis Bronchiectasis Hyposplenia |
35 | M | 11.3 | 46, XY.arr[hg19] 3p14.3 (57, 994, 310-58, 071, 249)x1 pat | Airways | Developmental delay Dysmorphic features | Submucosal palatal schisis Transient neonatal macroglossi Hepatosplenomegaly |
36 | F | 6.8 | 45, X | Airways | None | na |
37 | F | 20.2 | 46, XX, der(2)t(2;10)(q37.3;q26.3)mat.arr snp 2q37.2q37.3(SNP_A-1957498->SNP_A-2027809)x1,10q26.3 (SNP_A-2264115->SNP_A-1934598)x3 | Airways | Developmental delay Ataxia, paresis or other motor disability | Autistiform developmental delay Splenomegaly Cytopenias Granulomata Gastroparesis Obesitas |
38(i) | M | 6.5 | 49, XXXXY | Airways | Developmental delay Dysmorphic features | na |
39(i) | M | 10.6 | 49, XXXXY | Airways | Developmental delay Dysmorphic features | na |
40(i) | M | 14.6 | 49, XXXXY | Airways | None | na |
41(i) | M | 13.3 | 49, XXXXY | Airways | Developmental delay Dysmorphic features | na |
42(i) | M | 11.7 | 49, XXXXY | Airways | Developmental delay Dysmorphic features Atopic eczema | na |
43 | M | 12.2 | 47, XYY, dup(22) (q11.21) | Pyogenic infections | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features Microcephaly | Asthma |
44 | F | 3.8 | 46, XX.arr snp 1q44 (SNP_A-2136114->SNP_A-4223408)x1 dn, 11p11.2p11.12 (SNP_A-1817808->SNP_A-4198132)x3 pat | Airways | Developmental delay Dysmorphic features Microcephaly Growth retardation Atopic eczema | Epilepsy Rocker bottom foot Cow’s milk allergy Feeding difficulties |
45 | F | 6.7 | 46, X, idic(X) (p11.21).arr snp 22q11.21 (SNP_A-2108791->SNP_A-2160861)x3 mat, Xp22.33p11.21(SNP_A-4207883->2247707)x1 dn, Xp11.21q28(SNP_A-4201150->SNP_A-2267820)x3 dn | Airways | Developmental delay Growth retardation | Prematurity; gestational age 30 weeks Bone anchored hearing aid Periorbital hemangioma |
46 | F | 12.9 | 46, XX, arr cgh 16p13.11p13.12 (14, 687, 636-16, 452, 200) x3. | Airways | Developmental delay Ataxia, paresis or other motor disability Dysmorphic features Microcephaly Growth retardation Atopic eczema | Severe scoliosis Seizures Myopathy of unknown etiology Chronic progressive external ophthalmoplegia Contractures; wheelchair bound |