Aller au contenu
Utilisez vos fonds HSA ou FSA

Rapport sur les affections · Immunologique

Immunodéficience primitive

Le séquençage du génome entier analyse simultanément plus de 450 gènes de déficit immunitaire primitif, du SCID (une urgence néonatale) à la CVID (la forme symptomatique de DIP la plus fréquente chez l'adulte), et fournit le diagnostic moléculaire qui détermine un traitement curatif ou un traitement de soutien.

Un rapport sur les affections recherche des variants rares dont on sait qu'ils provoquent les affections couvertes par ce rapport.

Inclus avec chaque kit

À partir de 449 $Livraison gratuite · Résultats sous 6 à 8 semaines

Obtenir mon Genome Test

À propos de ce condition

Maladies héréditaires qui affaiblissent ou dérèglent le système immunitaire, entraînant des infections fréquentes, graves ou inhabituelles, des maladies auto-immunes ou une inflammation. Ce rapport porte sur les erreurs innées de l'immunité qui ne disposent pas de leur propre rapport dédié. Des rapports distincts couvrent le déficit immunitaire combiné sévère, l'agammaglobulinémie, l'immunodéficience commune variable, les syndromes hyper-IgM, le syndrome activé de PI3K-delta, le syndrome de Wiskott-Aldrich, IPEX et les autres Tregopathies, l'ALPS, la maladie lymphoproliférative liée à l'X, l'ataxie-télangiectasie, le MSMD, le gain de fonction de STAT1 et STAT3, le syndrome d'hyper-IgE, la granulomatose septique chronique, le déficit d'adhérence leucocytaire, les déficits du complément, la HLH familiale et d'autres affections immunitaires nommées.

Les déficits immunitaires primitifs (DIP, également appelés erreurs innées de l'immunité) regroupent plus de 450 affections définies génétiquement, qui touchent le développement et/ou le fonctionnement du système immunitaire. La Société internationale des sociétés d'immunologie (IUIS) classe les DIP en 10 catégories, notamment les immunodéficiences combinées (SCID), les déficits essentiellement en anticorps (CVID, XLA), les défauts des phagocytes (CGD), les déficits du complément et les affections auto-inflammatoires. La prévalence des DIP est estimée à 1 sur 1 200, bien supérieure à ce qui était admis jusqu'ici, et la majorité des cas reste non diagnostiquée.

Le déficit immunitaire combiné sévère (SCID) est une urgence néonatale causée par des variants dans IL2RG (lié à l'X, le plus fréquent), ADA, JAK3, RAG1/RAG2, IL7R et d'autres gènes. Les nourrissons atteints ne possèdent pratiquement aucun lymphocyte T fonctionnel et meurent d'infections opportunistes au cours de la première année de vie en l'absence de traitement définitif. Le dépistage néonatal du SCID (par le test TREC) est désormais pratiqué dans tous les États américains, permettant d'identifier les nourrissons atteints avant la première infection. Une greffe de cellules souches hématopoïétiques (HSCT) réalisée avant l'âge de 3,5 mois, sans infection préalable, donne une survie supérieure à 95 %, ce qui fait du SCID un modèle de réussite thérapeutique présymptomatique.

Au-delà du SCID, le spectre des DIP comprend l'immunodéficience commune variable (CVID, la forme symptomatique de DIP la plus fréquente chez l'adulte, touchant environ 1 sur 25 000), l'agammaglobulinémie liée à l'X (XLA, BTK), la granulomatose septique chronique (CGD, CYBB), ainsi que des centaines d'affections plus rares. Des thérapies ciblées se développent : le léniolisib (FDA 2023) pour le syndrome activé de PI3Kδ (APDS), la thérapie génique pour le SCID-ADA et le SCID lié à l'X, et les inhibiteurs de JAK pour certains sous-types de DIP. Un diagnostic moléculaire est nécessaire pour toutes les thérapies ciblées et est essentiel pour le choix du donneur de HSCT et la planification du schéma de conditionnement.

Le léniolisib (Joenja, FDA 2023) est la première thérapie ciblée du syndrome activé de PI3Kδ (APDS), causé par des variants de gain de fonction dans PIK3CD ou PIK3R1. La confirmation moléculaire est requise pour la prescription. Le WGS identifie tous les variants de l'APDS.

Les 2 maladies que nous analysons

Déficit immunitaire

Maladie caractérisée par une déficience ou une anomalie des mécanismes de l'immunité, qu'elle soit cellulaire ou humorale.

Ce que change un diagnostic

HSCT pour le SCID et les DIP sévères ; traitement substitutif par immunoglobulines (IVIG/SCIG) pour les déficits en anticorps ; leniolisib (Joenja, FDA 2023) pour l'APDS ; thérapie génique pour l'ADA-SCID ; abatacept pour le déficit en CTLA4/LRBA ; antibioprophylaxie ; G-CSF pour la CGD

Gènes analysés

Également connu sous le nom de

immuno-deficiency; immunodeficiency; immunodeficiency disorder; immunodeficiency syndrome

Inclut 332 sous-types associés ↓
  • activated PI3K-delta syndrome
  • agammaglobulinemia
  • agammaglobulinemia 10, autosomal dominant
  • agammaglobulinemia 2, autosomal recessive
  • agammaglobulinemia 3, autosomal recessive
  • agammaglobulinemia 4, autosomal recessive
  • agammaglobulinemia 5, autosomal dominant
  • agammaglobulinemia 6, autosomal recessive
  • agammaglobulinemia 7, autosomal recessive
  • agammaglobulinemia 8, autosomal dominant
  • agammaglobulinemia 8b, autosomal recessive
  • agammaglobulinemia 9, autosomal recessive
  • agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
  • agammaglobulinemia, autosomal recessive, due to BOB1 deficiency
  • AIDS
  • anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
  • ataxia telangiectasia
  • ataxia-telangiectasia with generalized skin pigmentation and early death
  • atypical hemolytic uremic syndrome with complement gene abnormality
  • atypical hemolytic-uremic syndrome
  • atypical hemolytic-uremic syndrome with anti-factor H antibodies
  • atypical hemolytic-uremic syndrome with B factor anomaly
  • atypical hemolytic-uremic syndrome with C3 anomaly
  • atypical hemolytic-uremic syndrome with DGKE deficiency
  • atypical hemolytic-uremic syndrome with H factor anomaly
  • atypical hemolytic-uremic syndrome with I factor anomaly
  • atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
  • atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
  • autoinflammatory disease, familial, Behcet-like-3
  • autosomal agammaglobulinemia
  • autosomal dominant combined immunodeficiency due to ERBIN deficiency
  • autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
  • autosomal recessive agammaglobulinemia 1
  • autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
  • autosomal recessive combined immunodeficiency due to IL6R deficiency
  • autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
  • autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
  • B cell deficiency
  • Bruton-type agammaglobulinemia
  • C1 inhibitor deficiency
  • C1Q deficiency
  • C1Q deficiency 1
  • C1Q deficiency 2
  • C1Q deficiency 3
  • Cernunnos-XLF deficiency
  • chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency
  • classic complement early component deficiency
  • combined immunodeficiency
  • combined immunodeficiency due to CD3gamma deficiency
  • combined immunodeficiency due to CRAC channel dysfunction
  • combined immunodeficiency due to CTPS1 deficiency
  • combined immunodeficiency due to dimerization defective IKAROS mutation
  • combined immunodeficiency due to DOCK8 deficiency
  • combined immunodeficiency due to GINS1 deficiency
  • combined immunodeficiency due to LRBA deficiency
  • combined immunodeficiency due to MALT1 deficiency
  • combined immunodeficiency due to moesin deficiency
  • combined immunodeficiency due to ORAI1 deficiency
  • combined immunodeficiency due to OX40 deficiency
  • combined immunodeficiency due to partial RAG1 deficiency
  • combined immunodeficiency due to POLE2 deficiency
  • combined immunodeficiency due to STIM1 deficiency
  • combined immunodeficiency due to STK4 deficiency
  • combined immunodeficiency due to TBX1 deficiency
  • combined immunodeficiency due to ZAP70 deficiency
  • combined immunodeficiency syndrome
  • combined immunodeficiency with faciooculoskeletal anomalies
  • combined immunodeficiency with low Ig due to BCL10 deficiency
  • combined immunodeficiency with skin granulomas
  • combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency
  • combined immunodeficiency, X-linked
  • common variable immunodeficiency
  • complement component 2 deficiency
  • complement component 3 deficiency
  • complement component 4a deficiency
  • complement component 4b deficiency
  • complement component 5 deficiency
  • complement component 6 deficiency
  • complement component 7 deficiency
  • complement component 9 deficiency
  • complement component C1r/C1s deficiency
  • complement component C1s deficiency
  • complement deficiency
  • complement factor I deficiency
  • complement receptor deficiency
  • congenital agammaglobulinemia
  • congenital T-cell immunodeficiency
  • cryptosporidiosis-chronic cholangitis-liver disease syndrome
  • deafness-lymphedema-leukemia syndrome
  • deficiency in anterior pituitary function - variable immunodeficiency syndrome
  • DiGeorge syndrome
  • disorder of lectin complement activation pathway
  • DNA ligase IV deficiency
  • DNAJC21-related Shwachman Diamond syndrome
  • DOCK2 deficiency
  • dysgammaglobulinemia
  • early-onset combined immunodeficiency with low ig due to dominant negative IKAROS mutation
  • ectodermal dysplasia and immunodeficiency 1
  • FADD-related immunodeficiency
  • familial severe combined immunodeficiency
  • FASLG-related immunodeficiency
  • FNIP1-associated syndrome
  • GATA2 deficiency with susceptibility to MDS/AML
  • Good syndrome
  • granulocytopenia with immunoglobulin abnormality
  • hatipoglu immunodeficiency syndrome
  • HELIOS deficiency
  • hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • hyper-IgE recurrent infection syndrome 3, autosomal recessive
  • hyper-IgE recurrent infection syndrome 4, autosomal recessive
  • hyper-IgE recurrent infection syndrome 4A, autosomal dominant
  • hyper-IgE recurrent infection syndrome 5, autosomal recessive
  • hyper-IgE syndrome
  • hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
  • hyper-IgM syndrome
  • hyper-IgM syndrome type 1
  • hyper-IgM syndrome type 2
  • hyper-IgM syndrome type 3
  • hyper-IgM syndrome type 4
  • hyper-IgM syndrome type 5
  • hyperimmunoglobulin syndrome
  • hypoproteinemia, hypercatabolic
  • idiopathic CD4 lymphocytopenia
  • idiopathic CD4-positive T-lymphocytopenia
  • IgAD1
  • IKBKG-related immunodeficiency with or without ectodermal dysplasia
  • IKZF2-related combined immunodeficiency
  • IL21-related infantile inflammatory bowel disease
  • immune deficiency due to impaired neutrophil phagocytosis and migration
  • immune deficiency, familial variable
  • immunodeficiency 101 (varicella zoster virus-specific)
  • immunodeficiency 102
  • immunodeficiency 104
  • immunodeficiency 105
  • immunodeficiency 106, susceptibility to viral infections
  • immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
  • immunodeficiency 109 with lymphoproliferation
  • immunodeficiency 112
  • immunodeficiency 113 with autoimmunity and autoinflammation
  • immunodeficiency 114, folate-responsive
  • immunodeficiency 115 with autoinflammation
  • immunodeficiency 117
  • immunodeficiency 118
  • immunodeficiency 119
  • immunodeficiency 11b with atopic dermatitis
  • immunodeficiency 120
  • immunodeficiency 121 with autoinflammation
  • immunodeficiency 122
  • immunodeficiency 123 with HPV-related verrucosis
  • immunodeficiency 125
  • immunodeficiency 126, susceptibility to
  • immunodeficiency 127
  • immunodeficiency 131
  • immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy
  • immunodeficiency 134 (Epstein-Barr virus-specific)
  • immunodeficiency 14
  • immunodeficiency 14b, autosomal recessive
  • immunodeficiency 15a
  • immunodeficiency 18
  • immunodeficiency 19
  • immunodeficiency 23
  • immunodeficiency 25
  • immunodeficiency 28
  • immunodeficiency 31B
  • immunodeficiency 32B
  • immunodeficiency 33
  • immunodeficiency 35
  • immunodeficiency 36 with lymphoproliferation
  • immunodeficiency 37
  • immunodeficiency 39
  • immunodeficiency 45
  • immunodeficiency 47
  • immunodeficiency 49
  • immunodeficiency 51
  • immunodeficiency 53
  • immunodeficiency 57
  • immunodeficiency 60
  • immunodeficiency 61
  • immunodeficiency 62
  • immunodeficiency 63 with lymphoproliferation and autoimmunity
  • immunodeficiency 64
  • immunodeficiency 65, susceptibility to viral infections
  • immunodeficiency 66
  • immunodeficiency 67
  • immunodeficiency 69
  • immunodeficiency 70
  • immunodeficiency 72 with autoinflammation
  • immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
  • immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
  • immunodeficiency 74, COVID-19-related, X-linked
  • immunodeficiency 75
  • immunodeficiency 76
  • immunodeficiency 77
  • immunodeficiency 78 with autoimmunity and developmental delay
  • immunodeficiency 79
  • immunodeficiency 80 with or without congenital cardiomyopathy
  • immunodeficiency 81
  • immunodeficiency 82 with systemic inflammation
  • immunodeficiency 84
  • immunodeficiency 85 and autoimmunity
  • immunodeficiency 86
  • immunodeficiency 87 and autoimmunity
  • immunodeficiency 88
  • immunodeficiency 89 and autoimmunity
  • immunodeficiency 91 and hyperinflammation
  • immunodeficiency 92
  • immunodeficiency 94 with autoinflammation and dysmorphic facies
  • immunodeficiency 95
  • immunodeficiency 96
  • immunodeficiency 97 with autoinflammation
  • immunodeficiency 98 with autoinflammation, X-linked
  • immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
  • immunodeficiency due to a classical component pathway complement deficiency
  • immunodeficiency due to a late component of complement deficiency
  • immunodeficiency due to CD25 deficiency
  • immunodeficiency due to ficolin3 deficiency
  • immunodeficiency due to MASP-2 deficiency
  • immunodeficiency due to selective anti-polysaccharide antibody deficiency
  • immunodeficiency, common variable, 1
  • immunodeficiency, common variable, 10
  • immunodeficiency, common variable, 12
  • immunodeficiency, common variable, 14
  • immunodeficiency, common variable, 15
  • immunodeficiency, common variable, 2
  • immunodeficiency, common variable, 3
  • immunodeficiency, common variable, 4
  • immunodeficiency, common variable, 5
  • immunodeficiency, common variable, 6
  • immunodeficiency, common variable, 7
  • immunodeficiency, common variable, due to APRIL deficiency
  • Immunoerythromyeloid hypoplasia
  • immunoglobulin A deficiency 2
  • immunoglobulin beta deficiency
  • IRF4-related combined immunodeficiency
  • IRF4-related immune disorder
  • isolated agammaglobulinemia
  • ITPKB deficiency
  • janus kinase-3 deficiency
  • late-onset combined immunodeficiency due to ICOSL deficiency
  • lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
  • lymphoproliferative syndrome 1
  • MAN2B2 deficiency
  • mannose-binding lectin deficiency
  • MHC class I deficiency
  • MHC class I deficiency 1
  • MHC class I deficiency 2
  • MHC class I deficiency 3
  • MHC class II deficiency
  • MHC class II deficiency 1
  • MHC class II deficiency 2
  • MHC class II deficiency 3
  • MHC class II deficiency 4
  • MHC class II deficiency 5
  • monocytopenia with susceptibility to infections
  • myalgic encephalomeyelitis/chronic fatigue syndrome
  • Netherton syndrome
  • neutrophil immunodeficiency syndrome
  • Nezelof syndrome
  • NFATC1-related combined immunodeficiency
  • NIK deficiency
  • non-SCID combined immunodeficiency
  • non-severe combined immunodeficiency due to COPG1 deficiency
  • non-severe combined immunodeficiency due to polymerase delta deficiency
  • Omenn syndrome
  • pancytopenia due to IKZF1 mutations
  • PAX5-related B lymphopenia and autism spectrum disorder
  • Pelger-Huet-like anomaly and episodic fever with abdominal pain
  • platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
  • POLD2-related combined immunodeficiency
  • POLD3-related combined immunodeficiency
  • primary immunodeficiency due to calcium channel deficiency
  • primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
  • primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
  • PTEN harmartoma tumor syndrome with immune disorder
  • pulmonary alveolar proteinosis with hypogammaglobulinemia
  • pyogenic bacterial infections due to MyD88 deficiency
  • RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome
  • recombinase activating gene 1 deficiency
  • recombinase activating gene 2 deficiency
  • recurrent Neisseria infections due to factor D deficiency
  • reticular dysgenesis
  • reticular dysgenesis-like severe combined immunodeficiency
  • secretory component deficiency
  • selective IgA deficiency disease
  • selective IgD deficiency disease
  • selective IgE deficiency disease
  • selective IgG immunodeficiency
  • selective IgG subclass deficiency
  • selective IgM deficiency
  • selective immunoglobulin deficiency disease
  • severe combined immunodeficiency
  • severe combined immunodeficiency due to CARD11 deficiency
  • severe combined immunodeficiency due to CARMIL2 deficiency
  • severe combined immunodeficiency due to CD70 deficiency
  • severe combined immunodeficiency due to CORO1A deficiency
  • severe combined immunodeficiency due to DCLRE1C deficiency
  • severe combined immunodeficiency due to DNA-PKcs deficiency
  • severe combined immunodeficiency due to IKK2 deficiency
  • severe combined immunodeficiency due to LAT deficiency
  • severe combined immunodeficiency due to LCK deficiency
  • severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
  • short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
  • short-limb skeletal dysplasia with severe combined immunodeficiency
  • Shwachman-Diamond syndrome 1
  • syndromic agammaglobulinemia
  • T-B- severe combined immunodeficiency
  • T-B+ severe combined immunodeficiency
  • T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
  • T-B+ severe combined immunodeficiency due to CD45 deficiency
  • T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • T-cell immunodeficiency
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • T+ B+ severe combined immunodeficiency
  • TCR-alpha-beta-positive T-cell deficiency
  • TFRC-related combined immunodeficiency
  • TNFRSF9-related immunodeficiency
  • TRAF3 haploinsufficiency
  • transient hypogammaglobulinemia
  • transient hypogammaglobulinemia of infancy
  • type I complement component 8 deficiency
  • type II complement component 8 deficiency
  • Wiskott-Aldrich syndrome
  • Wiskott-Aldrich syndrome 2
  • Wiskott-Aldrich syndrome, autosomal dominant form
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
  • X-linked lymphoproliferative disease due to SH2D1A deficiency
  • X-linked lymphoproliferative disease due to XIAP deficiency
  • X-linked lymphoproliferative syndrome
MONDO:0021094MedGen 7034

Erreur innée de l'immunité

Maladies héréditaires du système immunitaire causées par des modifications de gènes uniques, qui affectent la manière dont l'organisme combat les infections ou régule l'inflammation.

Gènes analysés

Également connu sous le nom de

antibody deficiency syndrome; immunologic deficiency syndrome; immunological deficiency syndrome; IEI; inborn errors of immunity; primary immunodeficiency disease

Inclut 235 sous-types associés ↓
  • A20 haploinsufficiency
  • activated PI3K-delta syndrome
  • agammaglobulinemia
  • agammaglobulinemia 10, autosomal dominant
  • agammaglobulinemia 2, autosomal recessive
  • agammaglobulinemia 3, autosomal recessive
  • agammaglobulinemia 4, autosomal recessive
  • agammaglobulinemia 5, autosomal dominant
  • agammaglobulinemia 6, autosomal recessive
  • agammaglobulinemia 7, autosomal recessive
  • agammaglobulinemia 8, autosomal dominant
  • agammaglobulinemia 8b, autosomal recessive
  • agammaglobulinemia 9, autosomal recessive
  • agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
  • agammaglobulinemia, autosomal recessive, due to BOB1 deficiency
  • Aicardi-Goutieres syndrome
  • Aicardi-Goutieres syndrome 1
  • Aicardi-Goutieres syndrome 2
  • Aicardi-Goutieres syndrome 3
  • Aicardi-Goutieres syndrome 4
  • Aicardi-Goutieres syndrome 5
  • Aicardi-Goutieres syndrome 6
  • Aicardi-Goutieres syndrome 7
  • Aicardi-Goutieres syndrome 8
  • Aicardi-Goutieres syndrome 9
  • atypical hemolytic uremic syndrome with complement gene abnormality
  • atypical hemolytic-uremic syndrome
  • atypical hemolytic-uremic syndrome with anti-factor H antibodies
  • atypical hemolytic-uremic syndrome with B factor anomaly
  • atypical hemolytic-uremic syndrome with C3 anomaly
  • atypical hemolytic-uremic syndrome with DGKE deficiency
  • atypical hemolytic-uremic syndrome with H factor anomaly
  • atypical hemolytic-uremic syndrome with I factor anomaly
  • atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
  • atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • atypical lymphoproliferative disorder
  • autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
  • autoimmune lymphoproliferative syndrome
  • autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • autoimmune lymphoproliferative syndrome type 1
  • autoimmune lymphoproliferative syndrome type 2A
  • autoimmune lymphoproliferative syndrome type 2B
  • autoimmune lymphoproliferative syndrome type 4
  • autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
  • autosomal agammaglobulinemia
  • autosomal dominant combined immunodeficiency due to ERBIN deficiency
  • autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
  • autosomal recessive agammaglobulinemia 1
  • autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
  • autosomal recessive combined immunodeficiency due to IL6R deficiency
  • autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
  • autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
  • B cell deficiency
  • basal ganglia calcification, idiopathic, childhood-onset
  • BENTA disease
  • Bruton-type agammaglobulinemia
  • C1 inhibitor deficiency
  • C1Q deficiency
  • C1Q deficiency 1
  • C1Q deficiency 2
  • C1Q deficiency 3
  • candidiasis, familial, 1
  • candidiasis, familial, 3
  • candidiasis, familial, 4
  • candidiasis, familial, 6
  • candidiasis, familial, 8
  • candidiasis, familial, 9
  • cartilage-hair hypoplasia
  • Castleman disease
  • Castleman-Kojima disease
  • Chediak-Higashi syndrome
  • chronic granulomatous disease
  • chronic mucocutaneous candidiasis
  • chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation
  • chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation
  • chronic mucocutaneous candidiasis due to lymphokine deficiency
  • chronic mucocutaneous candidiasis due to monocyte chemotactic disorder
  • classic complement early component deficiency
  • combined immunodeficiency due to DOCK8 deficiency
  • combined immunodeficiency due to LRBA deficiency
  • combined immunodeficiency due to moesin deficiency
  • combined immunodeficiency with faciooculoskeletal anomalies
  • combined immunodeficiency with low Ig due to BCL10 deficiency
  • common variable immunodeficiency
  • complement component 2 deficiency
  • complement component 3 deficiency
  • complement component 4a deficiency
  • complement component 4b deficiency
  • complement component 5 deficiency
  • complement component 6 deficiency
  • complement component 7 deficiency
  • complement component 9 deficiency
  • complement component C1r/C1s deficiency
  • complement component C1s deficiency
  • complement deficiency
  • complement factor I deficiency
  • complement receptor deficiency
  • congenital agammaglobulinemia
  • congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
  • deficiency in anterior pituitary function - variable immunodeficiency syndrome
  • dendritic cell deficiency
  • Dianzani autoimmune lymphoproliferative disease
  • disorder of lectin complement activation pathway
  • dysgammaglobulinemia
  • ectodermal dysplasia and immune deficiency
  • ectodermal dysplasia and immunodeficiency 1
  • ectodermal dysplasia and immunodeficiency 2
  • familial hemophagocytic lymphohistiocytosis 2
  • familial hemophagocytic lymphohistiocytosis 3
  • familial hemophagocytic lymphohistiocytosis 4
  • familial hemophagocytic lymphohistiocytosis 5
  • familial hemophagocytic lymphohistiocytosis type 1
  • familial isolated congenital asplenia
  • FAS-related autoimmune lymphoproliferative immune disorder
  • Good syndrome
  • granulomatous disease with defect in neutrophil chemotaxis
  • granulomatous disease, chronic, autosomal recessive, 5
  • granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
  • granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
  • granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
  • granulomatous disease, chronic, X-linked
  • Griscelli syndrome type 2
  • hemophagocytic lymphohistiocytosis due to RhoG deficiency
  • hemophagocytic lymphohistiocytosis, familial, 6
  • hepatic veno-occlusive disease-immunodeficiency syndrome
  • hereditary hemophagocytic lymphohistiocytosis
  • Hermansky-Pudlak syndrome 2
  • Hermansky-Pudlak syndrome 9
  • hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • hyper-IgE recurrent infection syndrome 3, autosomal recessive
  • hyper-IgE recurrent infection syndrome 4, autosomal recessive
  • hyper-IgE recurrent infection syndrome 4A, autosomal dominant
  • hyper-IgE recurrent infection syndrome 5, autosomal recessive
  • hyper-IgE syndrome
  • hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
  • hyper-IgM syndrome
  • hyper-IgM syndrome type 1
  • hyper-IgM syndrome type 2
  • hyper-IgM syndrome type 3
  • hyper-IgM syndrome type 4
  • hyper-IgM syndrome type 5
  • hyperimmunoglobulin syndrome
  • idiopathic multicentric Castleman disease
  • IgAD1
  • IL10-related early-onset inflammatory bowel disease
  • IL21-related infantile inflammatory bowel disease
  • immune deficiency, familial variable
  • immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
  • immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
  • immuno-osseous dysplasia
  • immunodeficiency 14
  • immunodeficiency 28
  • immunodeficiency 33
  • immunodeficiency 36 with lymphoproliferation
  • immunodeficiency 37
  • immunodeficiency 39
  • immunodeficiency 47
  • immunodeficiency 49
  • immunodeficiency 51
  • immunodeficiency 61
  • immunodeficiency 94 with autoinflammation and dysmorphic facies
  • immunodeficiency due to a classical component pathway complement deficiency
  • immunodeficiency due to a late component of complement deficiency
  • immunodeficiency due to ficolin3 deficiency
  • immunodeficiency due to MASP-2 deficiency
  • immunodeficiency with defective T-cell response to interleukin 1
  • immunodeficiency, common variable, 1
  • immunodeficiency, common variable, 10
  • immunodeficiency, common variable, 12
  • immunodeficiency, common variable, 14
  • immunodeficiency, common variable, 15
  • immunodeficiency, common variable, 2
  • immunodeficiency, common variable, 3
  • immunodeficiency, common variable, 4
  • immunodeficiency, common variable, 5
  • immunodeficiency, common variable, 6
  • immunodeficiency, common variable, 7
  • immunodeficiency, common variable, due to APRIL deficiency
  • immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein
  • immunodysregulation with variable immunodeficiency and autoimmunity
  • immunoglobulin A deficiency 2
  • immunoglobulin beta deficiency
  • immunoglobulin heavy chain deficiency
  • inflammatory bowel disease 25
  • inflammatory bowel disease 28
  • inflammatory bowel disease-recurrent sinopulmonary infections syndrome
  • isolated agammaglobulinemia
  • localized Castleman disease
  • lymphoproliferative syndrome
  • lymphoproliferative syndrome 1
  • lymphoproliferative syndrome 2
  • mannose-binding lectin deficiency
  • metaphyseal dysplasia without hypotrichosis
  • multicentric Castleman disease
  • Netherton syndrome
  • NK cell deficiency
  • pancytopenia due to IKZF1 mutations
  • PAX5-related B lymphopenia and autism spectrum disorder
  • pediatric Castleman disease
  • phagocyte bactericidal dysfunction
  • primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
  • properdin deficiency, X-linked
  • recurrent infections associated with rare immunoglobulin isotypes deficiency
  • recurrent Neisseria infections due to factor D deficiency
  • Say-Barber-Miller syndrome
  • Schimke immuno-osseous dysplasia
  • secretory component deficiency
  • selective IgA deficiency disease
  • selective IgD deficiency disease
  • selective IgE deficiency disease
  • selective IgG immunodeficiency
  • selective IgG subclass deficiency
  • selective IgM deficiency
  • selective immunoglobulin deficiency disease
  • severe combined immunodeficiency due to CD70 deficiency
  • short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
  • skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
  • STAT5 haploinsufficiency
  • syndromic agammaglobulinemia
  • T cell and NK cell immunodeficiency
  • T-cell immunodeficiency with epidermodysplasia verruciformis
  • transient hypogammaglobulinemia
  • transient hypogammaglobulinemia of infancy
  • TREX1-related autosomal dominant Aicardi-Goutieres syndrome
  • trichohepatoenteric syndrome
  • trichohepatoenteric syndrome 1
  • trichohepatoenteric syndrome 2
  • type 3 autoimmune lymphoproliferative syndrome
  • type I complement component 8 deficiency
  • type II complement component 8 deficiency
  • X-linked immunoneurologic disorder
  • X-linked lymphoproliferative disease due to SH2D1A deficiency
  • X-linked lymphoproliferative disease due to XIAP deficiency
  • X-linked lymphoproliferative syndrome
MONDO:0003778Orphanet 101997MedGen 585013

Pourquoi séquencer l’intégralité du génome ?

Les plus de 450 gènes de DIP ne peuvent être évalués par aucun test immunologique isolé. Les taux d'immunoglobulines et les sous-populations lymphocytaires permettent de détecter un déficit immunitaire, mais pas sa cause génétique ; un diagnostic moléculaire est nécessaire pour une prise en charge définitive.

Le SCID est curable s'il est diagnostiqué avant la première infection : une HSCT réalisée avant 3,5 mois permet une survie supérieure à 95 %

Le gène SCID concerné détermine le schéma de conditionnement optimal de la HSCT, le choix du donneur et la faisabilité de la thérapie génique comme alternative. Le SCID lié à IL2RG (lié à l'X) fait l'objet d'un programme actif de thérapie génique. Le SCID-ADA dispose d'une thérapie génique approuvée (Strimvelis). Le SCID RAG1/RAG2 nécessite un conditionnement myéloablatif pour la prise de greffe. Ces décisions de greffe propres à chaque gène exigent un diagnostic moléculaire rapide en période néonatale, idéalement dans les premières semaines de vie. Le WGS offre une évaluation complète des gènes du SCID plus rapidement que des tests successifs gène par gène.

La CVID touche 1 adulte sur 25 000, et de nombreux patients porteurs de variants monogéniques peuvent bénéficier de thérapies ciblées spécifiques

La CVID était auparavant considérée comme un diagnostic d'exclusion, dont la base génétique était inconnue. Les études génomiques ont identifié des causes monogéniques chez 25 à 30 % des patients atteints de CVID, notamment TNFRSF13B (TACI), NFKB1, CTLA4, PIK3CD, PIK3R1, LRBA et d'autres. Plusieurs de ces causes disposent de thérapies ciblées spécifiques : l'abatacept pour le déficit en CTLA4/LRBA, le léniolisib pour le gain de fonction de PIK3CD. Les patients qui ne reçoivent qu'un traitement substitutif standard par immunoglobulines peuvent bénéficier d'une thérapie ciblée supplémentaire une fois leur cause génétique précise identifiée par le WGS.

Autres conditions de la catégorie immunologique

Toutes les conditions →

Un seul test. Des réponses pour toute la vie.

Un kit, livré à votre domicile. L’intégralité de votre génome séquencée selon la norme clinique utilisée pour les décisions diagnostiques. Des rapports prêts à être utilisés par votre médecin, disponibles dans votre Genome Manager sous 6 à 8 semaines — conservés de façon permanente et mis à jour au fil des avancées scientifiques.

À partir de 449 $

Livraison gratuite · Résultats sous 6 à 8 semaines

Obtenir mon Genome Test