Infectious Disease Book

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Cell-Mediated Immunodeficiency

Aka: Cell-Mediated Immunodeficiency, Cell Mediated Immunity Disorder, T-Cell Disorder, Severe Combined Immunodeficiency, SCID, Ataxia Telangiectasia, Wiscott-Aldrich Syndrome, DiGeorge Syndrome, Velocardiofacial Syndrome, Congenital Thymic Aplasia
  1. See Also
    1. Primary Immunodeficiency
    2. Immune System
    3. Humoral Immunity (Immunoglobulin)
    4. T-Lymphocyte
    5. B-Lymphocyte
    6. Antigen Processing
    7. Complement Pathway
  2. Epidemiology
    1. T-Cell Disorders account for 9-10% of Primary Immunodeficiency in both Europe and U.S.
  3. Pathophysiology
    1. Most T-Cell Disorders are mixed T-Cell and B-Cell Disorders as B-Cells rely on T-Cells
    2. Contrast with Humoral Disorders which primarily affect B-Cells and Immunoglobulin
  4. Causes: Severe Combined Immunodeficiency (SCID)
    1. Severe T cell deficiency causes B Cell dysfunction
    2. X-Linked deficiency or Autosomal Recessive trait (1 in 100,000 live births in U.S.)
    3. Subtypes include X-Linked SCID, Autosomal Recessive SCID, Adenosine Deaminase Deficiency
    4. Onset before age 3 months
    5. Presents with Diarrhea, opportunistic infections, severe childhood infections and Failure to Thrive
    6. Specific infections include Otitis Media, Mononucleosis and Candidiasis
    7. Survival 90% with diagnosis and Stem Cell Transplant in first 3.5 months of life (contrast with 70% after that age)
      1. Added to routine Newborn Screening panels in about one third of U.S. States as of 2013-14
      2. False Positives 1.5% in term infants and 5% Preterm Infants in NICU (will requires re-testing)
  5. Causes: Ataxia Telangiectasia
    1. Combined humoral and cell-mediated Immunity deficiency
    2. Impaired DNA repair mechanisms result in IgA deficiency (and possibly IgG2 and IgE deficiency)
    3. Onset of telangiectasia by age 3-6 years old
    4. Progressive Ataxia affecting disordered ambulation by age 10-12 years old
    5. Recurrent sinus and lung infections, autoimmune disorders and malignancy (e.g. Non-Hodgkin Lymphoma)
  6. Causes: Wiscott-Aldrich Syndrome
    1. X-Linked disorder, typicalluy diagnosed around 21 months of age
    2. Classic triad of Thrombocytopenia, recurrent Otitis Media and Eczema (present in only 27% of cases)
    3. Thrombocytopenia with life threatening bleeding (GI Bleeding, Intracranial Bleeding) in up to 30% of children
  7. Causes: DiGeorge Syndrome (Velocardiofacial, Congenital Thymic Aplasia)
    1. Deletion at 22q11.2 results in incomplete development from third and fourth pharyngeal pouches
      1. Thymus hypoplasia
      2. Hypoparathyroidism with Hypocalcemia
      3. Cardiac abnormalities and altered facial features
    2. T Lymphocyte deficiency (low T-Cell numbers and decreased or absent T-Cell response)
      1. Severe Viral Infections from contagious spread or from Live Vaccine
      2. Persistent fungal infections (e.g. Thrush persists >12 months)
  8. Resources
    1. National Primary Immunodeficiency Resource Center
      1. http://npi.jmfworld.org
    2. Immune Deficiency Foundation
      1. http://www.primaryimmune.org
  9. References
    1. Mahmoudi (2014) Immunology Made Ridiculously Simple, MedMaster, Miami, FL
    2. Cooper (2003) Am Fam Physician 68:2001-11 [PubMed]
    3. Reust (2013) Am Fam Physician 87(11): 773-8 [PubMed]
    4. Rosen (1995) N Engl J Med 333(7):431-440 [PubMed]

Ataxia Telangiectasia (C0004135)

Definition (MEDLINEPLUS)

Ataxia-telangiectasia (AT) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include

  • Ataxia - trouble coordinating movements
  • Poor balance
  • Slurred speech
  • Tiny, red spider veins, called telangiectasias, on the skin and eyes
  • Lung infections
  • Delayed physical and sexual development

People with AT have an increased risk of developing diabetes and cancers, particularly lymphoma and leukemia. Although it affects the brain, people with AT usually have normal or above normal intelligence.

AT has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamin therapy.

NIH: National Institute of Neurological Disorders and Stroke

Definition (NCI) Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2% of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk for several types of cancer. The normal version of the gene that is defective in AT appears to activate the p53-dependent response to DNA damage.
Definition (NCI_NCI-GLOSS) A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an increased risk of cancer.
Definition (CSP) inherited disease characterized by onset in early childhood of progressive cerebellar ataxia, oculocutaneous telangiectasis, and severe sinopulmonary infections.
Definition (MSH) An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D001260
SnomedCT 68504005
English Ataxia Telangiectasia, Louis Bar Syndrome, Louis-Bar Syndrome, Syndrome, Louis-Bar, Ataxia-Telangiectasia, ATAXIA-TELANGIECTASIA, LOUIS-BAR SYNDROME, AT1, AT, Louis Bar syndrome, ataxia telangiectasia (diagnosis), Louis-Bar disease, ataxia telangiectasia (Louis-Bar disease), ataxia telangiectasia, Ataxia Telangiectasia Syndrome, Syndrome, Ataxia Telangiectasia, Ataxia Telangiectasia [Disease/Finding], louis bar syndrome, louis-bar syndrome, Telangiectasia, Cerebello-Oculocutaneous, Ataxia telangiectasia syndrome, ataxia-telangiectasia, Ataxia-telangiectasia syndrome, Ataxia telangiectasia, Louis-Bar syndrome, Ataxia-telangiectasia syndrome (disorder), ataxia telangiectasia (ATM), ATM, ataxia; telangiectasia, Louis-Bar, telangiectasia; ataxia, Ataxia-telangiectasia
Italian Atassia teleangectasica, Sindrome atassia teleangectasia, Sindrome di Louis-Bar, Atassia-teleangectasia, Atassia teleangectasia
Japanese 毛細血管拡張運動失調, モウサイケッカンカクチョウウンドウシッチョウ, ルイ・バール症候群, アタキシア・テランジエクタシア, ルイス・バール症候群, Louis-Bar症候群, 運動失調症-毛細血管拡張性, ルイス-バール症候群, ルイス-バー症候群, 毛細管拡張性運動失調, 毛細血管拡張性運動失調, 血管拡張性失調症, 血管拡張性運動失調症, 運動失調症-血管拡張性, アタキシア-テランジエクタシア, ルイ-バール症候群, 毛細血管拡張性失調症, 毛細血管拡張性運動失調症
Swedish Ataxia telangiektasia
Finnish Ataksia-teleangiektasia
Russian LUI-BAR SINDROM, ATAKSIIA-TELEANGIEKTAZIIA, АТАКСИЯ-ТЕЛЕАНГИЭКТАЗИЯ, ЛУИ-БАР СИНДРОМ
Czech Ataxia teleangiectasia, syndrom Louis-Barové, teleangiektatická ataxie, ataxie teleangiektatická
Croatian TELEANGIEKTATIČNA ATAKSIJA, ATAKSIJA, TELEANGIEKTATIČNA, LOUIS-BAROV SINDROM
Polish Zespół ataksja-teleangiektazja, Zespół A-T, Zespół Luisa-Bara
Hungarian Ataxia teleangiectasia
French Syndrome d'ataxie-télangiectasie, Ataxie-télangiectasies, Ataxie-télangiectasie, AT (Ataxie-Télangiectasie), Ataxie télangiectasie, Ataxie télangiectasique, Syndrome de Louis-Bar
Norwegian Ataksi-teleangiektasi, Ataxia telangiectasia, Ataksi med teleangiektasi, Louis-Bars syndrom
Spanish síndrome de Louis-Bar, síndrome de ataxia - telangiectasia (trastorno), síndrome de ataxia - telangiectasia, síndrome de ataxia-telangiectasia (trastorno), ataxia-telangiectasia, síndrome de Louis - Bar, síndrome de ataxia-telangiectasia, Ataxia telangiectasia, Ataxia Telangiectasia, Síndrome de Louis-Bar
Dutch atactisch; teleangiëctasie, teleangiëctatisch; ataxie, ataxie teleangiëctasie, Ataxia teleangiectatica, Louis-Bar-syndroom
Portuguese Ataxia telangiectásica, Ataxia Telangiectasia, Síndrome de Louis-Bar
German Ataxia teleangiectasia, Ataxia teleangiectatica, Louis-Bar-Syndrom, Teleangiektasie, zephalo-okulo-kutane
Sources
Derived from the NIH UMLS (Unified Medical Language System)


DiGeorge Syndrome (C0012236)

Definition (MSH) Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
Definition (MSHCZE) Vzácný závažný vrozený syndrom charakterizovaný aplazií thymu a příštítných tělísek a poruchou aortálního oblouku v důsledku poruchy vývoje 3. a 4. žaberní výchlipky. Mohou být přítomny ještě další anomálie (čelisti, obličeje, boltců apod). U některých postižených je defekt na 22. chromozomu (lokus 22q11). Po narození bývají tetanie z hypokalcemie a projevy srdeční vady. Později se začínají objevovat infekční komplikace charakteru buněčné imunodeficience. Při parciálním D. s. je variabilní nález hypoplazie thymu, děti nemusejí mít vážné problémy s infekty ani s růstem, mohou být projevy hypokalcemie. Klinický obraz kompletního D. s. odpovídá SCID. Léčba spočívá v transplantaci kostní dřeně a thymu. Prognóza je dána včasnou a úspěšnou léčbou, bez které je infaustní. (cit. Velký lékařský slovník online, 2012 http://lekarske.slovniky.cz/ )
Definition (NCI) A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.
Definition (CSP) congenital syndrome with the absence of the thymus and parathyroids causing impairment of cellular immunity; immunoglobulin levels are normal.
Concepts Disease or Syndrome (T047)
MSH D004062
ICD9 279.11
ICD10 D82.1
SnomedCT 190991007, 77128003
English DiGeorge's syndrome, Third and fourth pharyngeal pouch syndrome, 3rd+4th pharyngeal pouch syndr, Syndrome, DiGeorge, Di George's syndrome, HYPOPLASIA OF THYMUS AND PARATHYROIDS, CATCH22, DIGEORGE SYNDROME, DGS, THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME, DiGeorge Syndrome, DiGeorge's syndrome (diagnosis), DiGeorge's Syndrome, CHROMOSOME 22q11.2 DELETION SYNDROME, 22q11.2 Deletion Syndrome, DiGeorge Syndrome [Disease/Finding], di georges syndrome, digeorge syndromes, thymic aplasia syndrome, digeorge's syndrome, digeorges syndrome, di george's syndrome, digeorge sequence, di george syndrome, digeorge syndrome, thymic hypoplasia, digeorge anomaly, syndrome di george, Digeorge's syndrome, Autosomal Dominant Opitz G Bbb Syndrome, Familial Third and Fourth Pharyngeal Pouch Syndrome, Thymic Aplasia Syndrome, DiGeorge Anomaly, Autosomal Dominant Opitz G-Bbb Syndrome, Pharyngeal Pouch Syndrome, Catch22, DiGeorge Sequence, Third and Fourth Pharyngeal Pouch Syndrome, DiGeorge syndrome (disorder), Pharyngeal pouch syndrome, Thymic hypoplasia syndrome, DiGeorge sequence, DiGeorge syndrome, Thymic-parathyroid aplasia, Branchial arch syndrome, DiGeorge anomaly, DiGeorge sequence (disorder), Agenesis of the parathyroid AND thymus glands, Third AND fourth pharyngeal arch syndrome, Third AND fourth pharyngeal pouch syndrome, pharyngeal pouch syndrome, parathyroid-thymic; aplasia, pharyngeal pouch; syndrome, syndrome; pharyngeal pouch, DiGeorge, aplasia; parathyroid-thymic, Agenesis of the parathyroid and thymus glands, Third and fourth pharyngeal arch syndrome, Hypoplasia of Thymus and Parathyroids
Dutch thymus-bijschildklieraplasie, aplasie; bijschildklier en thymus, bijschildklier en thymus; aplasie, farynxdivertikel; syndroom, syndroom; farynxdivertikel, Syndroom van Di George, syndroom van DiGeorge, DiGeorge, DiGeorge, syndroom van, Syndroom van DiGeorge
German Thymus-Nebenschilddruesenaplasie, DiGeorge Syndrom, Di-George-Syndrom, Hypoplasie von Thymus und Parathyreoidea
Italian Aplasia di timo e paratiroidi, Ipoplasia del timo e delle paratiroidi, Sindrome di DiGeorge
Portuguese Aplasia timoparatiroideia, Síndrome de Shprintzen, Agenesia do Timo, Displasia do Timo, Aplasia do Timo, Síndrome de DiGeorge
Spanish Aplasia tímica y paratiroidea, Agenesia del Timo, Displasia del Timo, Aplasia del Timo, agenesia de las glándulas paratiroides y tímicas, aplasia tímica - paratiroides, sucesión de DiGeorge, síndrome de DiGeorge (trastorno), síndrome de DiGeorge, síndrome de hipoplasia tímica, síndrome del saco faríngeo, síndrome del tercer y cuarto arco faríngeo, síndrome del tercer y cuarto saco faríngeo, Síndrome de DiGeorge
Japanese 胸腺−副甲状腺無形成, キョウセンフクコウジョウセンムケイセイ, ディジョージショウコウグン, 第三・四鰓嚢症候群, ディ・ジョージ症候群, ディ・ジョルジ症候群, 第3・第4鰓嚢症候群, DiGeorge症候群, 第三・第四鰓嚢症候群, ディジョルジー症候群, ディジョージ症候群, 咽頭嚢症候群
Swedish DiGeorges syndrom
Finnish DiGeorgen oireyhtymä
Russian DIDZHORDZHE SINDROM, DIGEORGE SINDROM, ВЕЛО-КАРДИО-ФАЦИАЛЬНЫЙ СИНДРОМ, 22Q11.2 ДЕЛЕЦИИ СИНДРОМ, 22Q11.2 DELETSII SINDROM, VELO-KARDIO-FATSIAL'NYI SINDROM, ДЕЛЕЦИОННЫЙ СИНДРОМ 22Q11.2, ВЕЛО-КАРДИО-ЛИЦЕВОЙ СИНДРОМ, VELO-KARDIO-LITSEVOI SINDROM, DELETSIONNYI SINDROM 22Q11.2, ДИГЕОРГЕ СИНДРОМ, ДИДЖОРДЖЕ СИНДРОМ
Czech Aplazie thymu a příštitných tělísek, hypoplázie brzlíku a příštitných tělísek, DiGeorgeův syndrom
Korean 디 죠지 증후군
Hungarian Thymus-parathyreoid aplasia, DiGeorge-syndroma
Polish Zespół di George`a, Zespół podniebienno-sercowo-twarzowy
French Cardiac anomaly, Abnormal face, Thymus hypoplasia, Cleft palate, Hypocalcaemia, 22 chromosome, Syndrome de Di George, Syndrome de DiGeorge, CATCH 22, SDG (Syndrome de DiGeorge), Syndrome de délétion du chromosome 22q11
Norwegian Shprintzens syndrom, DiGeorges syndrom
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Wiskott-Aldrich Syndrome (C0043194)

Definition (MSH) A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
Definition (NCI) A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common.
Definition (NCI_NCI-GLOSS) An inherited immune disorder that occurs in young boys. It causes eczema (a type of skin inflammation), a decrease in the number of platelets (blood cells that help prevent bleeding), and frequent bacterial infections. People with Wiskott-Aldrich syndrome are at increased risk of developing leukemia and lymphoma.
Definition (CSP) rare x-linked immunodeficiency syndrome of young boys characterized by eczema, thrombocytopenic purpura and recurrent pyogenic infection; IGM levels are low and IGA and IGE levels are elevated; lymphoreticular malignancies are common.
Concepts Disease or Syndrome (T047)
MSH D014923
ICD9 279.12
ICD10 D82.0
SnomedCT 36070007
English Aldrich Syndrome, Wiskott Aldrich Syndrome, Syndrome, Aldrich, Syndrome, Wiskott-Aldrich, Wiskott Aldrich syndrome, Eczema+thromb'paenia+imundefic, ECZEMA-THROMBOCYTOPENIA-IMMUNODEFICIENCY SYNDROME, WISKOTT-ALDRICH SYNDROME, IMD2, IMMUNODEFICIENCY 2, ALDRICH SYNDROME, WAS, Wiskott-Aldrich Syndrome, eczema thromocytopenia diarrhea syndrome, eczema thromocytopenia immunodeficiency syndrome, eczema thromocytopenia syndrome, Wiskott syndrome, Wiskott-Aldrich syndrome (diagnosis), Immunodeficiency with thrombocytopenia and eczema, Wiskott-Aldrich Syndrome [Disease/Finding], wiskott syndrome, aldrich syndrome wiskott, aldrich syndrome, wiskott aldrich syndrome, wiskott-aldrich syndrome, Syndrome, Eczema-Thrombocytopenia-Immunodeficiency, Eczema-Thrombocytopenia-Immunodeficiency Syndrome, Syndromes, Eczema-Thrombocytopenia-Immunodeficiency, Eczema Thrombocytopenia Immunodeficiency Syndrome, Eczema-Thrombocytopenia-Immunodeficiency Syndromes, WAS1, WISKOTT-ALDRICH SYNDROME 1, Wiskott-aldrich syndrome, Wiskott Syndrome, Immunodeficiency 2, Imd2, Aldrich syndrome, Wiskott-Aldrich syndrome, Eczema, thrombocytopenia, immunodeficiency syndrome, WAS - Wiskott-Aldrich syndrome, Immunodeficiency with thrombocytopenia AND eczema, Wiskott-Aldrich syndrome (disorder), Aldrich, Wiskott-Aldrich, familial; eczema-thrombocytopenia, immunodeficiency; thrombocytopenia and eczema, thrombocytopenia; eczema, immunodeficiency
Dutch syndroom van Aldrich, familiaal; eczeem-trombocytopeniesyndroom, immunodeficiëntie; trombocytopenie en eczeem, trombocytopenie; eczeem, immunodeficiëntie, syndroom van Wiskott-Aldrich, Aldrich-syndroom, Syndroom van Wiskott-Aldrich
Japanese ウィスコット・オルドリック症候群, オルドリック症候群, オルドリックショウコウグン, ウィスコットオルドリックショウコウグン, ウィスコット・アルドリック症候群, ヴィスコット・オールドリッチ症候群, ウィスコット・オールドリッチ症候群, Aldrich症候群, Wiskott-Aldrich症候群, ウィスコット-アルドリッチ症候群, オールドリッチ症候群, ウィスコット-アルドリック症候群, ヴィスコット-オールドリッチ症候群
Swedish Wiskott-Aldrichs syndrom
Czech Wiskottův-Aldrichův syndrom, Aldrichův syndrom, Wiskott-Aldrichův syndrom
Finnish Wiskott-Aldrichin oireyhtymä
Russian OLDRICHA SINDROM, VISKOTTA-OLDRICHA SINDROM, ВИСКОТТА-ОЛДРИЧА СИНДРОМ, ОЛДРИЧА СИНДРОМ
Italian WAS, Sindrome di Aldrich, Sindrome di Wiskott-Aldrich
Korean 비스코트-올드리치 증후군
Polish Zespół Wiskotta-Aldricha
Hungarian Aldrich syndroma, Wiskott-Aldrich-syndroma
French WAS (Wiskott-Aldrich Syndrome), Eczéma-thrombocytopénie-immunodéficience, Syndrome de Wiskott-Aldrich, Maladie de Wiskott-Aldrich, Syndrome d'Aldrich
Norwegian Immunsvikt med trombocytopeni og eksem, Wiskott-Aldrich-syndromet, Wiskott-Aldrichs syndrom
Spanish inmunodeficiencia con trombocitopenia Y eccema, síndrome de Wiskott - Aldrich (trastorno), síndrome de Wiskott - Aldrich, Síndrome de Aldrich, Síndrome de Wiskott-Aldrich
German Wiskott-Aldrich Syndrom, Aldrich-Syndrom, Wiskott-Aldrich-Syndrom
Portuguese Síndrome de Aldrich, Síndrome de Wiskott-Aldrich
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Severe Combined Immunodeficiency (C0085110)

Definition (MSH) Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).
Definition (NCI_NCI-GLOSS) A rare, inherited disease that is marked by a lack of B lymphocytes (white blood cells that make antibodies and help fight infections) and a lack of T lymphocytes (white blood cells that attack virus-infected cells, foreign cells, and cancer cells). Patients with this disease have a high risk of developing viral, bacterial, and fungal infections.
Definition (NCI) X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004
Definition (LNC) Severe combined immunodeficiency (SCID) is an inherited disorder of the immune system resulting from a defect in both T and B lymphocytes. Beginning in the first few months of life, affected individuals are prone to recurrent and persistent infections caused by opportunistic bacteria, viruses, and fungi. These infections are often serious or life-threatening. Researchers have described several different types of severe combined immunodeficiency, which are caused by mutations in multiple genes.
Definition (CSP) group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels; it is inherited as an X-linked or autosomal recessive defect; about half of the patients with autosomal recessive SCID are deficient in the enzyme adenosine deaminase.
Concepts Disease or Syndrome (T047)
MSH D016511
SnomedCT 190994004, 31323000
LNC LP111254-1, MTHU036640, LA12566-8
English Combined Immunodeficiencies, Severe, Combined Immunodeficiency, Severe, Immunodeficiencies, Severe Combined, Immunodeficiency Syndrome, Severe Combined, Immunodeficiency, Severe Combined, Immunologic Deficiency, Severe Combined, Severe Combined Immunodeficiencies, Severe Combined Immunodeficiency, Severe Combined Immunodeficiency Syndrome, Severe Combined Immunologic Deficiency, severe combined immunodeficiency, Comb T-cell + B-cell immunodef, SCID - Sev combin immunodefic, Severe combined immunodefic, SEVERE COMBINED IMMUNOL DEFIC, IMMUNOL DEFIC SEVERE COMBINED, SEVERE COMBINED IMMUNODEFIC, SEVERE COMBINED IMMUNODEFIC SYNDROME, IMMUNODEFIC SEVERE COMBINED, IMMUNODEFIC SYNDROME SEVERE COMBINED, severe combined immunodeficiency disease (diagnosis), severe combined immunodeficiency disease, Severe combined immunodeficiency syndrome, Severe Combined Immunodeficiency [Disease/Finding], combined immunodeficiency severe, scid, combined immunodeficiencies severe, scids, Severe Combined Immune Deficiency, SCID, Combined T-cell and B-cell immunodeficiency, SCID - Severe combined immunodeficiency, Severe combined immunodeficiency, Severe combined immunodeficiency disease (disorder), Severe combined immunodeficiency disease, combined T and B cell inborn immunodeficiency, combined; immunodeficiency, severe (SCID), immunodeficiency; combined, severe (SCID), SCID, NOS, Severe combined immunodeficiency disease, NOS
Swedish Svår kombinerad immunbrist
Czech imunodeficience kombinovaná těžká, Syndrom těžkého kombinovaného imunodeficitu
Finnish SCID-oireyhtymä
Russian IMMUNODEFITSIT TIAZHELYI KOMBINIROVANNYI, IMMUNOLOGICHESKAIA NEDOSTATOCHNOST' TIAZHELAIA KOMBINIROVANNAIA, SCID, ИММУНОДЕФИЦИТ ТЯЖЕЛЫЙ КОМБИНИРОВАННЫЙ, ИММУНОЛОГИЧЕСКАЯ НЕДОСТАТОЧНОСТЬ ТЯЖЕЛАЯ КОМБИНИРОВАННАЯ
Japanese 重症複合型免疫不全症, 免疫不全症-重症複合, ベアリンホサイト症候群, 免疫不全-重症複合型, スキッド, 免疫不全-重症複合, 重症複合免疫不全, 免疫不全症-重症複合型, ジュウショウフクゴウメンエキフゼンショウコウグン, 重症複合免疫不全症候群, 重症複合免疫不全症, 重症複合型免疫不全
Italian SCID, Sindrome da immunodeficienza combinata grave, Immunodeficienze combinate gravi
Spanish Síndrome de inmunodeficiencia combinada grave, Inmunodeficiencia Combinada Grave, Inmunodeficiencia Combinada Severa, Inmunodeficiencia Combinada Grave (IDCG), Inmunodeficiencia Combinada Grave (SCID), Inmunodeficiencia Combinada Severa (IDCS), inmunodeficiencia combinada severa (trastorno), inmunodeficiencia combinada severa
Portuguese Síndrome da imunodeficiência grave combinada, Imunodeficiência Combinada Grave, Imunodeficiência Combinada Severa (IDCS), Imunodeficiência Severa Combinada, Imunodeficiência Combinada Grave (IDCG), Imunodeficiência Combinada Grave (SCID), Imunodeficiência Combinada Severa
French Syndrome de l'immunodéficience sévère combinée, Déficit immunitaire combiné sévère, Immunodéficience combinée grave, DICS
German Schweres kombiniertes Immundefizienz-Syndrom, Immuninsuffizienz, schwere kombinierte, SCID, Schwerer kombinierter Immundefekt
Dutch ernstig gecombineerd immunodeficiëntiesyndroom, gecombineerd; immunodeficiëntie, ernstig (SCID), immunodeficiëntie; gecombineerd, ernstig (SCID), SCID, Ernstige gecombineerde immunodeficiëntie, Immunodeficiëntie, ernstige gecombineerde
Polish Niedobory immunologiczne złożone ciężkie, Zespół nagiego limfocytu, SCID
Hungarian Súlyos összetett immunhiány syndroma
Norwegian Alvorlig kombinert immunsvikt, SCID
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Deficiency of cell-mediated immunity (C1533651)

Concepts Pathologic Function (T046)
ICD9 279.1
SnomedCT 190989004, 190990008, 103076008, 190992000, 398293003
English Cell-mediated immune defic, Cell-mediated immune defic.NOS, Cell-mediated immune deficienc, Deficiency of cell-mediated immunity NOS, deficiency of cell-mediated immunity, deficiency of cell-mediated immunity (diagnosis), Deficiencies of cell-mediated immunity (disorder), Cellular immunity syndrome, Deficiency of cell-mediated immunity NOS (finding), Cell-mediated immune deficiency, Cellular immune defect, Deficiencies of cell-mediated immunity, Cellular immune defect (finding), Deficiency of cell-mediated immunity
Italian Immunodeficienza cellulomediata, Deficit dell'immunità cellulare
Dutch deficiëntie van cel-gemedieerde immuniteit, cel-gemedieerde immunodeficiëntie
Japanese 細胞性免疫不全症, サイボウセイメンエキフゼンショウ
Czech Porucha buněčné imunity, Deficit buňkami zprostředkované imunity
Hungarian Sejt-közvetített immunhiány, Sejt-mediált immunitas hiánya
Spanish deficiencia de la inmunidad celular, SAI, defecto inmunitario celular, deficiencia de la inmunidad celular, SAI (hallazgo), defecto inmunológico celular, defecto inmunológico celular (hallazgo), defecto celular inmunitario (hallazgo), defecto celular inmunitario, defecto celular inmunológico, defecto inmune celular (hallazgo), defecto inmune celular, Deficiencia de la inmunidad celular
Portuguese Imunodeficiência de mediação celular
French Déficit de l'immunité à médiation cellulaire
German zellvermittelter Immunmangel
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Defective cellular immunity (C1855752)

Concepts Finding (T033)
English Defective cellular immunity
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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