Neurocutaneous disorders, also known as phakomatoses, are congenital and acquired
syndromes resulting in simultaneous neurologic and cutaneous involvement. In several of …

Background Combined immune deficiencies (CIDs) with associated or syndromic features
are a highly heterogeneous subgroup of inherited immune disorders. These patients …

Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder
associated with early onset ataxia and oculomotor apraxia. The genetic determination of …

Mutations in Ataxia-Telangiectasia Mutated (ATM) gene are prominently responsible for the
condition. ATM gene encodes a serine/threonine protein kinase, a crucial component in …

Ataxia telangiectasia (AT), caused by biallelic variants in the ATM gene, is a multisystemic
and severe syndrome characterized by progressive ataxia, telangiectasia, hyperkinesia …

Objective: The clinical manifestations of Ataxia-Telangiectasia (AT) are very complex and
are easy misdiagnosed and missed. The purpose of this study was to explore the clinical …

Steroid 5α‐reductase type 3 congenital disorder of glycosylation (SRD5A3‐CDG) is an
extremely rare congenital disease. Common manifestations are developmental delay …

Inborn errors of immunity include multiple genetic abnormalities affecting different
components of the innate and adaptive immune systems. More than 450 genes have been …

Ataxia-telangiectasia-like disorder 1 (ATLD1; OMIM# 604391) is an extremely rare disease
with only 25 confirmed cases worldwide (1), with the largest recognized cohort in Saudi …

مقدمه: نقایص ایمنی اولیه اختلالات نسبتاً نادر و هتروژنی هستند که یک یا چندین عضو از سیستم
ایمنی دچار اختلال عملکرد می‌شود. اکثریت این افراد با توجه به نوع اختلالی که دارند دچار …‎