Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes

Bayram, Özlem; Haskoloğlu, Şule; Bayrakoğlu, Deniz; Bal, Sevgi Köstel; İslamoğlu, Candan; Çipe, Funda; Kendirli, Tanıl; Kurşun, Nazmiye; Güner, Şükrü Nail; Yıldıran, Alişan; Bozdoğan, Günseli; Yüksek, Mutlu; Reisli, İsmail; Dalva, Klara; Aytekin, Caner; Boztuğ, Kaan; Doğu, Figen; İkincioğulları, Aydan

doi:10.1007/s10875-021-01062-y

Cited by 8 publications

(11 citation statements)

References 18 publications

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“…The mean survival time after HSCT was 38.46 ± 52.20 months, with a median of 12.00 (0-168) months. Bayram et al reported that HSCT was performed in 61 of 72 their patients and that only 12 of them died, with an overall survival rate of 80.3% (14). In a cohort study conducted by İkinciogulları et al, the overall survival rate was 65.7%, similar to our ndings, and this rate was found to be 54% for the rst 10 years and 69% for the second 10 years (13).…”

Section: Discussionsupporting

confidence: 88%

“…In societies where cousin marriage is quite common, such as our country, we observe a higher number of SCID with AR inheritance (7,10,11) . Three recent studies from our country have reported that the most common SCID phenotypes include T-B-and T-B+, among which the most frequent genetic defects with AR inheritance leading to SCID are RAG1/2, JAK3 and ADA enzyme de ciency in our country (12)(13)(14). These studies also noted that the median age at admission to the hospital ranged from 3.5 to 5 months, with the most common complaints being oral moniliasis and lung infection, while the most frequently detected laboratory abnormalities were lymphopenia (12)(13)(14).…”

Section: Introductionmentioning

confidence: 83%

“…Three recent studies from our country have reported that the most common SCID phenotypes include T-B-and T-B+, among which the most frequent genetic defects with AR inheritance leading to SCID are RAG1/2, JAK3 and ADA enzyme de ciency in our country (12)(13)(14). These studies also noted that the median age at admission to the hospital ranged from 3.5 to 5 months, with the most common complaints being oral moniliasis and lung infection, while the most frequently detected laboratory abnormalities were lymphopenia (12)(13)(14). In our study, we retrospectively evaluated the clinical and laboratory results of patients diagnosed with SCID at our clinic over the past 20 years and developed an algorithm to help diagnosis of SCID for the countries which high ratio of consanguineous marriage and haven't started TREC assay in their newborn screening program.…”

Section: Introductionmentioning

confidence: 83%

“…Further if the patients died with severe life treating infection under 2 years of age they also accepted as SCID despite absolute lymphocyte count upper than 3000/mm 3 if they had not checked for presence of maternal T cells. On the other hand, if the patients had molecularly defect or mutation in the genes which classi ed as CID by IUIS, they accepted as CID even if they admitted with lymphopenia at under 2 years of age (12)(13)(14).…”

Section: Methodsmentioning

confidence: 99%

“…If the genetic mutation is unknown, ESID accepts the patients as probable SCID and recommends that they should be treated accordingly until a de nitive diagnosis has been established, thus avoiding any scenarios where such cases go unnoticed. However, there is no diagnostic criteria for other T-cell de ciencies in ESID, which may lead to delay diagnosis and treatment of such patients (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20).…”

Section: Introductionmentioning

confidence: 99%

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Retrospective analysis of patients with severe combined immune deficiency: A 20-year Single center experience

Korkmaz¹,

Aytekin²,

Tokgöz³

et al. 2022

Preprint

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Severe combined immune deficiency (SCID) is a primary immunodeficiency characterized by impairment in the development and function of lymphocytes and could be a fatal disease if not treated with hematopoietic stem cell transplant in the first 2 years of life. There are differences in SCID diagnostic criteria between different primary immunodeficiency societies. This study aimed to retrospectively evaluate clinical and laboratory findings of the patients followed up with the diagnosis of 59 SCID at our clinic over the past 20 years to develop an algorithm to help diagnosis of SCID for the countries which high ratio of consanguineous marriage and haven’t started TREC assay in their newborn screening program. The mean age at diagnosis was 5.80 ± 4.90 months, delay in diagnosis was 3.29 ± 3.99 months. The most common complaint and physical examination findings were cough and eczematous rash (63%)/organomegaly (61%), respectively. ADA, Artemis, RAG1/2 deficiency were the most common genetic defects. Lymphopenia (87.5%) was the most frequent abnormal laboratory finding and below 3000/mm³ in 95% of the patients. CD3+ T cell count was 300/mm3and below in 83% of the patients. Although the diagnostic criterion for SCID is specified as a CD3+ T lymphocyte count below 300/mm3 by IUIS and lower total lymphocyte counts (under 3000/mm3) together with determination of genetic defects leading to SCID by ESID, profound lymphopenia might not occur in some genetic defects. Combination of ESID and IUIS criteria for diagnosis of SCID would be safety for the countries with high ratio of consanguineous marriage. Physicians should consider diagnosis of SCID in the patient under 2 years with severe infections together with lymphocyte count under of 3000/mm3.

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Section: Discussionsupporting

confidence: 88%