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Table 4 Clinical and laboratory parameters for our patients at last follow-up

From: Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic

Case

Age at last follow-up

Height at last

follow-up

(cm, percentile)

Hematologic symptoms

CKD

Stage

at last follow-up

Age at ESKD

(years)

Dialysis

Infection

complications

Neurologic

complications

Autoimmune diseases

1

5 y 8 ma

78,  < 3rd

Leucopenia WBC 2.2 × 109/L, Evans syndrome, bone marrow failure

1

-

No

Mycoplasma pneumoniae pneumonia, Candida albicans sepsis, protracted EBV systemic infection, Enterococcus cloacae sepsis

Recurrent headaches, convulsions, cerebral ischemic events, triplegia with expressive aphasia

Yes

2

17 y 9 m

123,  < 3rd

Leucopenia

WBC 3.4 × 109/L

5

6

Yes

Recurrent herpes zoster skin infection, repeated peritoneal catheter exit site Pseudomonas aeruginosa and Staphylococccus aureus infections

No

No

3

7 y 3 m

80, < 3rd

Leucopenia

WBC 3.0 × 109/L

5

2.5

Yes

No

Recurrent headaches, transient ischemic attacks presenting as right upper limb palsy and expressive aphasia

No

4

7y

86, < 3rd

Leucopenia

WBC 2.4 × 109/L

5

3.3

Yes

Recurrent upper respiratory infections, aphthous stomatitis

Recurrent headaches, transient ischemic attacks, right upper limb palsy

No

5

2 y 6 m

74, < 3rd

Leucopenia

WBC 3.4 × 109/L

5

3.3

Yes

Severe course of COVID-19 infection

No

No

  1. aPatient died at this age