Table 1.

Clinical presentation

IDSexInitial neurologic findingsInitial I+ and AID+ symptomsType of initial presentationI+ present age, moN+ present age, moAID+ present age, moPNP diagnose age, moHSCT at age, mo
1∗  F Tremor, ataxia, DL RTI, GI (Giardia) N 30 6  30 35 
2 F DL in motor skills None, VZV (treated with acyclovir) N 15 6  15 26 
3 M DL RTI, OM, diarrhea I 1 30  47 51 
4∗  F DL, microcephalus/brachycephalus, encephalitis/meningitis (at 2 y): subsequent hydrocephalus, ataxia, spastic paresis of upper limbs Diarrhea RTI, OM I 4 24  24 35 
5 M DL, generalized hypotonia Diarrhea, VZV/pneumonia, OM I 6 9  9 14 
6 F Ataxia neck/trunk, choreatic movements, polymicrogyria (like sibling not suffering from PNP) RTI N 6 3  6 10 
7 M DL, spastic paresis Family history (brother had CID) N  12  12 27 
8 F DL in motor skills, mild truncal hypotonia Severe VZV I 11 12  12 16 
9 F DL RTI, GI, thrush I 5 11  11 14 
10 F DL, spastic paraparesis, MRI: global atrophy, corpus callosum atrophy RTI, VZV (pneumonia/myocarditis) N 23 6  23 25 
11 F Hypotonia, insufficient head control Severe VZV, septicemia I 3 7  3 6 
12 M Motoric coordination disorder, spastic paresis RTI, impetigo, GI (RV) I 12 24  71 72 
13 F Ataxia (MRI: normal), after first HSCT ability to walk; deterioration before second HSCT, motoric DL Thrush, RTI (RSV), GI (RV), AIHA I 7 20 20 22 24 
14 M Lower limb/truncal hypotonia; spastic paresis; motor DL with impaired balance OM, RTI, severe VZV, zoster N 20 9  9 47 
15 M SNHL unrelated to PNP (other cause; a cochlear implant); mild gross motor DL, consanguinity AIHA, ITP, URT, RTI/bronchiectasis; intussusception A/I 23 None 23 23 39 
16 F Normal Family history† (newborn diagnosis) None  None  0 2 
17 F Generalized hypotonia, DL RTI, OM; CMV (including CNS) I/N 15 15  15 39 
18 F DL of motor and speech function AIHA, ITP, pyelonephritis; sepsis I/N 18 18  18 25 
19 M Spastic paresis, mild spastic dysplasia, DL AIN, RTI I/N 19 19 19 19 22 
20 F Cerebral palsy and spastic paraparesis, DL RTI, VZV, bronchiectasis, thrush N 72 8  72 168 
21 M Ataxia, spastic paraparesis, mild DL RTI, thrush, dermatitis I 1 18  26 28 
22 F Normal Thrush, GI (Campylobacter) (sibling died from EBV/lymphoma) I 24 None  24 25 
23 M DL, motor retardation with spastic paresis of lower extremities, progressed to spastic tetraparesis RTI, OM I/N 12 12  12 42 
24 F Normal AIHA, ITP A 6 None 6 6 12 
25∗  M Hemiplegia, gross motor DL; MRI brain: delayed myelination/thin corpus callosum; bilateral lower motor neuron signs in both lower limbs RTI, paronychia, AIN, CMV/EBV N 11 6 11 6 31 
26 F Upper motor signs at HSCT; motor DL present with asymmetry of tone increased in lower limbs and posturing of upper limbs/head Family history: sibling had severe neurologic disease and died without HSCT (newborn diagnosis) N  5  0 7 
27 F DL, atactic, unstable gait, motor DL; after severe VZV; central motor paralysis AIHA; severe VZV N 18 12 18 18 36 
28 M Normal Severe VZV I 36 None  38 40 
29∗  M Mild DL, hypotonia Recurrent thrush I 14 10  21 22 
30 F Severe DL with no sitting/crawling/running RTI, tracheomalacia N 12 8  12 20 
31 F Generalized hypotonia
Ataxia (noted after general anesthesia). Unsafe swallow 		RTI (influenza A). GI (NV, SP, RV) I 4 16  4 18 
32 M Choreoathetosis, motor DL VZV (at 48 mo of age), DLBCL (EBV-related at 186 mo of age) N 48 20  186 192 
33 M Ataxia Thrush I 12 14  18 43 
34 M Stiffness both lower extremities and ankles; mild, nonprogressive gait difficulty Atopic dermatitis asthma; sinusitis, vaccine related VZV (via sibling) N 48 12  108 119 
35 M Motor DL, ataxia, spastic diplegia; MRI: normal Asthma, cow's milk/peanut allergy, vaccine related VZV, RTI N 18 18  84 92 
36∗  M Hypotonia, motor and speech delay OM, thrush, zoster (VZV); CMV/ADV N 48 9  48 52 
37 F Normal Family history† (newborn diagnosis) None  None  0 2 
38‡  F Normal Family history† (newborn diagnosis) None  None  0 4 
39‡  M Grossly normal examination; ataxia, hemi spastic paresis; motor delay RTI, AIHA, dermatitis, zoster (VZV) I 1 11 11 35 41 
40‡  M Motor DL, axial hypotonia Family history (patient 39); cleft palate; OM with conductive hearing loss I/N 12 12  17 26 
41‡  M Normal Family history (sibling of patient 39/40) (antenatal diagnosis)†  None  None  0 4 
42 M Generalized hypotonia RTI (ADV/CV) diarrhea, thrush I 5 7  11 12 
43 F Motor DL, generalized hypotonia Aphthous stomatitis, EBV-LGN (CNS, kidney, spleen, liver) I 3 17  17 22 
44∗  F Spastic diplegia, DL MAS and arthritis N  5 31 33 37 
45 F Motor DL, spastic tendency, ataxia, hypotonia Vaccine related VZV I/N 21 6  21 23 
46 F Normal Family history† (newborn diagnosis) None  None  0 3 
IDSexInitial neurologic findingsInitial I+ and AID+ symptomsType of initial presentationI+ present age, moN+ present age, moAID+ present age, moPNP diagnose age, moHSCT at age, mo
1∗  F Tremor, ataxia, DL RTI, GI (Giardia) N 30 6  30 35 
2 F DL in motor skills None, VZV (treated with acyclovir) N 15 6  15 26 
3 M DL RTI, OM, diarrhea I 1 30  47 51 
4∗  F DL, microcephalus/brachycephalus, encephalitis/meningitis (at 2 y): subsequent hydrocephalus, ataxia, spastic paresis of upper limbs Diarrhea RTI, OM I 4 24  24 35 
5 M DL, generalized hypotonia Diarrhea, VZV/pneumonia, OM I 6 9  9 14 
6 F Ataxia neck/trunk, choreatic movements, polymicrogyria (like sibling not suffering from PNP) RTI N 6 3  6 10 
7 M DL, spastic paresis Family history (brother had CID) N  12  12 27 
8 F DL in motor skills, mild truncal hypotonia Severe VZV I 11 12  12 16 
9 F DL RTI, GI, thrush I 5 11  11 14 
10 F DL, spastic paraparesis, MRI: global atrophy, corpus callosum atrophy RTI, VZV (pneumonia/myocarditis) N 23 6  23 25 
11 F Hypotonia, insufficient head control Severe VZV, septicemia I 3 7  3 6 
12 M Motoric coordination disorder, spastic paresis RTI, impetigo, GI (RV) I 12 24  71 72 
13 F Ataxia (MRI: normal), after first HSCT ability to walk; deterioration before second HSCT, motoric DL Thrush, RTI (RSV), GI (RV), AIHA I 7 20 20 22 24 
14 M Lower limb/truncal hypotonia; spastic paresis; motor DL with impaired balance OM, RTI, severe VZV, zoster N 20 9  9 47 
15 M SNHL unrelated to PNP (other cause; a cochlear implant); mild gross motor DL, consanguinity AIHA, ITP, URT, RTI/bronchiectasis; intussusception A/I 23 None 23 23 39 
16 F Normal Family history† (newborn diagnosis) None  None  0 2 
17 F Generalized hypotonia, DL RTI, OM; CMV (including CNS) I/N 15 15  15 39 
18 F DL of motor and speech function AIHA, ITP, pyelonephritis; sepsis I/N 18 18  18 25 
19 M Spastic paresis, mild spastic dysplasia, DL AIN, RTI I/N 19 19 19 19 22 
20 F Cerebral palsy and spastic paraparesis, DL RTI, VZV, bronchiectasis, thrush N 72 8  72 168 
21 M Ataxia, spastic paraparesis, mild DL RTI, thrush, dermatitis I 1 18  26 28 
22 F Normal Thrush, GI (Campylobacter) (sibling died from EBV/lymphoma) I 24 None  24 25 
23 M DL, motor retardation with spastic paresis of lower extremities, progressed to spastic tetraparesis RTI, OM I/N 12 12  12 42 
24 F Normal AIHA, ITP A 6 None 6 6 12 
25∗  M Hemiplegia, gross motor DL; MRI brain: delayed myelination/thin corpus callosum; bilateral lower motor neuron signs in both lower limbs RTI, paronychia, AIN, CMV/EBV N 11 6 11 6 31 
26 F Upper motor signs at HSCT; motor DL present with asymmetry of tone increased in lower limbs and posturing of upper limbs/head Family history: sibling had severe neurologic disease and died without HSCT (newborn diagnosis) N  5  0 7 
27 F DL, atactic, unstable gait, motor DL; after severe VZV; central motor paralysis AIHA; severe VZV N 18 12 18 18 36 
28 M Normal Severe VZV I 36 None  38 40 
29∗  M Mild DL, hypotonia Recurrent thrush I 14 10  21 22 
30 F Severe DL with no sitting/crawling/running RTI, tracheomalacia N 12 8  12 20 
31 F Generalized hypotonia
Ataxia (noted after general anesthesia). Unsafe swallow 		RTI (influenza A). GI (NV, SP, RV) I 4 16  4 18 
32 M Choreoathetosis, motor DL VZV (at 48 mo of age), DLBCL (EBV-related at 186 mo of age) N 48 20  186 192 
33 M Ataxia Thrush I 12 14  18 43 
34 M Stiffness both lower extremities and ankles; mild, nonprogressive gait difficulty Atopic dermatitis asthma; sinusitis, vaccine related VZV (via sibling) N 48 12  108 119 
35 M Motor DL, ataxia, spastic diplegia; MRI: normal Asthma, cow's milk/peanut allergy, vaccine related VZV, RTI N 18 18  84 92 
36∗  M Hypotonia, motor and speech delay OM, thrush, zoster (VZV); CMV/ADV N 48 9  48 52 
37 F Normal Family history† (newborn diagnosis) None  None  0 2 
38‡  F Normal Family history† (newborn diagnosis) None  None  0 4 
39‡  M Grossly normal examination; ataxia, hemi spastic paresis; motor delay RTI, AIHA, dermatitis, zoster (VZV) I 1 11 11 35 41 
40‡  M Motor DL, axial hypotonia Family history (patient 39); cleft palate; OM with conductive hearing loss I/N 12 12  17 26 
41‡  M Normal Family history (sibling of patient 39/40) (antenatal diagnosis)†  None  None  0 4 
42 M Generalized hypotonia RTI (ADV/CV) diarrhea, thrush I 5 7  11 12 
43 F Motor DL, generalized hypotonia Aphthous stomatitis, EBV-LGN (CNS, kidney, spleen, liver) I 3 17  17 22 
44∗  F Spastic diplegia, DL MAS and arthritis N  5 31 33 37 
45 F Motor DL, spastic tendency, ataxia, hypotonia Vaccine related VZV I/N 21 6  21 23 
46 F Normal Family history† (newborn diagnosis) None  None  0 3 

ADV, adenovirus; CV, coronavirus; DL, developmental delay; DLBCL, diffuse large B-cell lymphoma; LGN, lymphoid granulomatosis; GI, gastrointestinal infection; I+, immunodeficiency; MAS, macrophage activation syndrome; N+, neurologic abnormalities; OM, otitis media; NV, norovirus; RV, rotavirus; RTI, respiratory tract infection; SP, sapovirus; URT, urinary tract infection.

∗

Deceased patient.

†

Erythrocyte exchange transfusion after birth.

‡

Siblings of 1 family.

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