{"id":22317,"date":"2022-08-31T08:50:07","date_gmt":"2022-08-31T08:50:07","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22317"},"modified":"2023-05-03T11:07:08","modified_gmt":"2023-05-03T11:07:08","slug":"severe-combined-immunodeficiency-scid-26-genes-ada-ak2-cd247-cd3d-cd3e-cd3g-ciita-coro1a-dclre1c-dock2-foxn1","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/severe-combined-immunodeficiency-scid-26-genes-ada-ak2-cd247-cd3d-cd3e-cd3g-ciita-coro1a-dclre1c-dock2-foxn1\/","title":{"rendered":"Severe Combined Immunodeficiency (SCID)"},"content":{"rendered":"

26 genes – ADA, AK2, CD247, CD3D, CD3E, CD3G, CIITA, CORO1A, DCLRE1C, DOCK2, FOXN1, IL2RG, IL7R, JAK3, LAT, LCK, LIG4, PRKDC, PTPRC, RAC2, RAG1, RAG2, RFX5, RFXANK, RFXAP, ZAP70<\/p>\n

Also includes: ADA-SCID and other types of SCID or SCID-like; IL2RG-SCID (X-linked SCID), LIG4 syndrome; etc<\/strong><\/p>\n

OMIM#102700 <\/strong>https:\/\/omim.org\/entry\/102700<\/p>\n

OMIM#267500 <\/strong>https:\/\/omim.org\/entry\/267500<\/p>\n

OMIM#610163 <\/strong>https:\/\/omim.org\/entry\/610163<\/p>\n

OMIM#615617 <\/strong>https:\/\/omim.org\/entry\/615617<\/p>\n

OMIM#615615 <\/strong>https:\/\/omim.org\/entry\/615615<\/a><\/p>\n

OMIM#615607 <\/strong>https:\/\/omim.org\/entry\/615607<\/a><\/p>\n

OMIM#209920 <\/strong>https:\/\/omim.org\/entry\/209920<\/a><\/p>\n

OMIM#615401 <\/strong>https:\/\/omim.org\/entry\/615401<\/a><\/p>\n

OMIM#602450 <\/strong>https:\/\/omim.org\/entry\/602450<\/a><\/p>\n

OMIM#616433 <\/strong>https:\/\/omim.org\/entry\/616433<\/a><\/p>\n

OMIM#618806 <\/strong>https:\/\/omim.org\/entry\/618806<\/a><\/p>\n

OMIM#300400 <\/strong>https:\/\/omim.org\/entry\/300400<\/a><\/p>\n

OMIM#608971 <\/strong>https:\/\/omim.org\/entry\/608971<\/a><\/p>\n

OMIM#600802 <\/strong>https:\/\/omim.org\/entry\/600802<\/a><\/p>\n

OMIM#617514 <\/strong>https:\/\/omim.org\/entry\/617514<\/a><\/p>\n

OMIM#615758 <\/strong>https:\/\/omim.org\/entry\/615758<\/a><\/p>\n

OMIM#606593 <\/strong>https:\/\/omim.org\/entry\/606593<\/a><\/p>\n

OMIM#615966 <\/strong>https:\/\/omim.org\/entry\/615966<\/a><\/p>\n

OMIM#608971 <\/strong>https:\/\/omim.org\/entry\/608971<\/a><\/p>\n

OMIM#618986 <\/strong>https:\/\/omim.org\/entry\/618986<\/a><\/p>\n

OMIM#601457 <\/strong>https:\/\/omim.org\/entry\/601457<\/a><\/p>\n

OMIM#269840 <\/strong>https:\/\/omim.org\/entry\/269840<\/a><\/p>\n

1. The disease<\/h4>\n

Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.<\/p>\n

Overall incidence is estimated at about 1\/50,000 live births, with regional differences and higher incidences among populations with a higher consanguinity rate. The disease affects more males because of the X-linked variant (SCID T-B+ due to gamma chain deficiency; see this term) that represents about 30% of SCID cases in Western countries.<\/p>\n

2. The symptoms<\/h4>\n

SCID usually presents within the first few months of life with failure to thrive, severe infections (pneumonia, gastrointestinal infections, sepsis), recurrent or persistent thrush, chronic diarrhoea, and\/or absent lymph nodes.<\/p>\n

Patients have an increased susceptibility to opportunistic infections (usually in the respiratory tract and the gut) most often due to\u00a0P. jiroveci<\/em>, some viruses (e.g.\u00a0cytomegalovirus, adenovirus) and fungi. Alopecia and skin rash may be present depending on the form (e.g. SCID due to gamma chain deficiency or SCID due to JAK3<\/em> deficiency).<\/p>\n

Patients are unable to produce specific antibodies after vaccination or natural infection.<\/p>\n

They may also present with extra immune manifestations like neurodevelopmental deficit, sensorineural deafness, and hepatic abnormalities (SCID due to adenosine deaminase (ADA) deficiency;) with sensorineural deafness (reticular dysgenesis). Others may show microcephaly with neurodevelopmental delay (e.g. LIG4 syndrome).<\/p>\n

Infants are usually initially asymptomatic<\/u> at birth and in the neonatal period. Lack of early signs or symptoms does not exclude the diagnosis.<\/p>\n

3. Actions to take in case of early diagnosis<\/h4>\n