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Table 1 Summary of the patient’s clinical manifestations

From: X-linked SCID with a rare mutation

 

Clinical presentations

Age of presentation

Paraclinical findings

Allergy

Food allergy presenting with chronic and bloody diarrhea

Starting at 12 months disappearing at 24 months

Stool exam

WBC: many (NR: 0–5/HPF)

RBC: 30–35 (NR: 0–5/HPF)

Stool α1 antitrypsin: 125 mg/dl (NR: < 54 mg/dl)

calprotectin: 850 mcg/g (NR: < 50 mcg/g)

SPTƗ: significantly positive for pistachio, egg white, wheat flour, ray flour, and milk

tTG IgG±: 1.3 IU/ml (Negative range: < 10 IU/ml)

anti-gliadin IgG:10.4 U/ml (Negative range: < 12 IU/ml)

Infectious

Frequent upper and lower respiratory tract infections

Recurrent otitis media

Cervical lymphadenopathies

Herpetic lesions on the hand fingers

emerging at 7 months continuing until a few months after starting of the IVIG therapy

Sputum sample PCR$: negative for EBV, HIV, meningococcus, pneumococcus, and influenza virus

positive for haemophilus influenza on one occasion

Anti-toxoplasma IgG and IgM antibodies: negative

anti-cytomegalovirus (CMV) IgM antibody: negative

  1. NR: Normal range
  2. ƗSkin prick test using Inmunotek extracts (Inmunotek Co., LTD, Spain)
  3. ±IgG antibody to tissue transglutaminase
  4. $Polymerase chain reaction