Table 1 Reported neurological manifestations in LRBA deficiency

Neuroinflammatory disease of the CNS

 Cerebral granuloma with strabismus and hemiplegia

Arabian

1y

Young adult (± 20y)

Yes

M

[2]

P1

[1] (P1)

 Cerebral granuloma with seizures^a

Sicilian

12y

26y

Yes

M

[2]

P3

[1] (P3)

 Cerebral granuloma-like lesion with unilateral optic nerve demyelination and atrophy^b

Iranian

5y

12y

Yes

F

[1]

P31

[17] (P9), [13] (P2)

 Cerebral granuloma-like lesions (multiple frontal)

-

7y

19y

-

M

[18]

P6

-

 Parietal lobe lesion with seizures

Lebanese

3y

4y

Yes

F

[1]

P29

-

 Multiple scattered focal bilateral T2/FLAIR hyperintense lesions in cortex and white matter

Caucasian

3y

6y

No

F

[19]

Index patient

-

 Cerebral and cerebellar atrophy

Turkish

6 m

13y

Yes

F

[20]

Index patient

[11] (P1), [1] (P14)

 Optic nerve atrophy, unilateral

Iranian

2y

5y

Yes

M

[1]

P28

[17] (P7)

 MS (Optic neuritis and enhancing plaque on the corpus callosum)

-

1y

-

Yes

F

[17]

P12

[15] (N2)

 Optic neuritis with demyelinating disease and multiple plaques in the brain

-

3.5y

 > 17y

Yes

M

[16]

P12

-

 Facial nerve palsy (unilateral, right-sided)

Turkish

7y

13y

Yes

M

[21]

Index patient

[22] (P1), [14] (P18)

 ADEM

14y

 LETM

Italian

6 m

5y

No

F

[10]

Index patient

-

Seizures

 Seizures, no further details nor CNS imaging

-

6 m

-

Yes

M

[18]

P9

-

 Seizures, no further details nor CNS imaging

Egyptian

6y

-

-

M

[23]

P10

-

 Seizures, no further details nor CNS imaging

Egyptian

4 m

-

-

M

[23]

P11

-

 Seizures, no further details nor CNS imaging

Egyptian

9 m

-

Yes

M

[12]

P6

-

Neuromuscular disease

 Demyelinating polyneuropathy

Turkish

6 m

13y

Yes

F

[20]

Index patient

[11] (P1), [1] (P14)

 Myasthenia gravis

Iranian

2y

17y?

Yes

F

[2]

P5

[24] (P3), [1] (P5), [17] (P16), [15] (N15)

Hearing loss

 Sensorineural hearing loss

Sicilian

12y

26y

Yes

M

[2]

P3

[1] (P3), [25] (P1)

 Sensorineural hearing loss

Caucasian (German)

4y

11y

No

F

[9]

P1 (105–1)

[25] (P2)

 Sensorineural hearing loss

Egyptian

9 m

-

M

[23]

P6

-

 Sensorineural hearing loss

-

12y

-

-

F

[18]

P4

-

Cerebrovascular disease

 Cerebral hemorrhage due to ITP

Turkish

7w

4y

No

M

[12]

P1

-

 Cerebral hemorrhage due to ITP

Asian (Japan)

9y

15y

No

M

[9]

P11 (553–2)

-

 Cerebral hemorrhage due to ITP

Turkish

Neonatal

4y

No

M

[11]

P3

-

 Multiple cerebral infarctions

Egyptian

9 m

-

Yes

M

[12]

P6

-

Intracranial hypertension

 Pseudotumor cerebri

-

13y

-

Yes

F

[26]

P14

-