Table 2.

Comparison of the clinical phenotype of the index patients to other LRBA-deficient patients.

Manifestation	Index patient	LRBA-deficient patients (%)
Autoimmunity	+	82
Enteropathy	+	63
Splenomegaly	Mild (13.6 cm on ultrasonography)	57
Recurrent pneumonias	–	49
Chronic diarrhea	+	48
Lymphadenopathy	–	43
Hepatomegaly	+ (17 cm on ultrasonography)	40
Failure to thrive	–	37
Interstitial lung disease	–	28
Sinusitis	+	24
Bronchiectasis	–	23
Otitis media	–	21
Clubbing	+	19
Arthritis	+	18
Granulomatous lesions	–	14
Allergy and asthma	–	14
Candidiasis	–	10
Septicemia	+ (following perforated appendicitis)	9
Abscess	–	6
Malignancy	–	6
Meningitis	–	5
Osteomyelitis	–	1

The clinical manifestations of the reported patient were compared to 103 patients with LRBA deficiency reported elsewhere (37).