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Table 1 Clinical phenotypes and gene mutation sites in two patients

From: Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1

Age at genetic diagnosis/sex

Patient 1 (1 year, male)

Patient 2 (4 year, male)

Respiratory infections

√

√

Hepatomegaly

√

N

Splenomegaly

√

N

Lymphadenectasis

√

N

Thrombocytopenia

N

√

ANA

−

 + 

dsDNA

−

 + 

Immunoglobulins

IgM ↑ IgG ↓ IgA nl

IgM ↑ IgG ↑ IgA ↑

Complement

nl

C3 ↓ C4 ↓

Mutation site

c.3061 G > A

c.2314G > A

New mutation site

N

√

Diagnosis

APDS1

SLE/APDS1

  1. √, present; + , positive; −, negative; ↑, increased abundance; ↓, decreased abundance; nl, normal; N, none
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Allergy, Asthma & Clinical Immunology

ISSN: 1710-1492

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