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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 45, X[42]/47, XXX [8] 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
  1. Headings: Nr = patient number; 1at the time of reporting; 2most prominent clinical immunological presentation; 3other clinical presentations as requested in the survey (Additional file 1)
  2. Patients: (a) previously published in Seidel MG, Duerr C, Woutsas S, et al. J Med Genet 2014;51:254–263, (b) previously published in Celmeli F, et al. J Investig Allergol Clin Immunol. 2014;24(6):442–4, (c) previously published in Seppänen et al. J Clin Immunol 2014;34:114–118., (d) family members and previously published in Dostal et al. International Journal of Immu-genetics 2007;34: 143–147 : patient 17 as IV:4 and patient 20 as IV, (e) family members, together with excluded patient 2, 3 and 4, (f) publication in press, Calvo Campoverde K, et al. Allergologia et Immunopathologia 2016, (g) previously published in Fernandez-San Jose C, J Paediatr Child Health 2011;47(7):485–6, (h) previously published in Browning MJ, J Investig Allergol Clin Immu-l 2010;20(3):263–266, (i) previously published in Keller MD, et al. Am J Med Genet C Semin Med Genet. 2013;163C(1):50–4
  3. Clinical presentations: Airways = Recurrent ENT and airway infections; FTT = failure to thrive from early infancy; unusual infections = unusual infections or unusually severe course of infections; AI disease = autoimmune or chronic inflammatory disease, lymphoproliferation; pyogenic infections = recurrent pyogenic infections; same pathogen = recurrent infections with the same type of pathogen (de Vries E. Clin Exp Immunol 2012;167(1):108–19.)
  4. Other abbrevations: ALL acute lymphatic leukemia, ASD atrial septum defect, BCG Bacillus Calmette-Guérin, F female, HPV human papilloma virus, IUGR intra uterine growth retardation, JIA juvenile idiopathic arthritis, M male, na not available, PDA patent ductus arteriosus, PEG percutaneous endoscopic gastrostomy, PS pulmonary stenosis, VSD ventricular septum defect, yrs: years
  5. * Samter’s triad: asthma, aspirin and NSAID sensitivity, and nasal/ethmoidal polyposis