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ErkrankungImmundefizienz, primäre; Differentialdiagnose

Zusammenfassung

Kurzinformation

IP7756_KI

ID
IP7755
Anzahl Gene
1 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1.000,0 kb (Core-/Basis-Gene)
- (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[[Sanger]]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
TecExom999999
  • Keine OMIM-Gs verknüpft
K-a

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

 

Synonyme
  • Alias: Agammaglobulinaemia
  • Alias: Agranulocytosis
  • Alias: Combined B + T cell defect
  • Alias: Congenital neutopenia
  • Alias: Familial hemophagocytic lymphohistiocytic disorders
  • Alias: Hypogammaglobulinemia
  • Alias: Immunodeficiencies affecting cellular + humoral immunity
  • Alias: Inherited complement deficiency
  • Alias: PIDD, primary immunodeficiency disease
  • Alias: Severe combined immunodeficiency
  • Allelic: Amyloidosis, familial visceral (B2M)
  • Allelic: Aplastic anemia (PRF1)
  • Allelic: Aplastic anemia, susceptibility to (SBDS)
  • Allelic: Basal laminar drusen (CFH)
  • Allelic: Blood group Cromer (CD55)
  • Allelic: Blood group, Rodgers (C4A)
  • Allelic: Congenital disorder of glycosylation, type Icc (MAGT1)
  • Allelic: Cowden syndrome 1 (PTEN)
  • Allelic: Defects with susceptibility to mycobacterial infection [panelapp] (ISG15)
  • Allelic: Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
  • Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
  • Allelic: Facioscapulohumeral muscular dystrophy 4, digenic (DNMT3B)
  • Allelic: Factor XII deficiency (F12)
  • Allelic: Gastric cancer risk after H. pylori infection (IL1RN)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: H. pylori infection, susceptibility to (IFNGR1)
  • Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 5 (C3)
  • Allelic: Hepatitis B virus infection, susceptibility to (IFNGR1)
  • Allelic: Hepatitis B virus, susceptibility to (IL10RB)
  • Allelic: Hyperuricemic nephropathy, familial juvenile, 4 [panelapp] (SEC61A1)
  • Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Allelic: Idiopathic basal ganglia calcification [panelapp] (ISG15)
  • Allelic: IgE, elevated level of (IL21R)
  • Allelic: Keratosis linearis with ichthyosis congenita + sclerosing keratoderma (POMP)
  • Allelic: Lhermitte-Duclos disease (PTEN)
  • Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
  • Allelic: Lymphoma, mantle cell, somatic (ATM)
  • Allelic: Lymphoma, non-Hodgkin (PRF1)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Macular degeneration, age-related, 14, reduced risk of (C2)
  • Allelic: Macular degeneration, age-related, 15, susceptibility to (C9)
  • Allelic: Macular degeneration, age-related, 9 (C3)
  • Allelic: Meningioma (PTEN)
  • Allelic: Microvascular complications of diabetes 4 (IL1RN)
  • Allelic: Multiple myeloma, resistance to (LIG4)
  • Allelic: Myeloid maturation arrest, osteopenia [panelapp] (JAGN1)
  • Allelic: Myopathy, tubular aggregate, 1 (STIM1)
  • Allelic: Myopathy, tubular aggregate, 2 (ORAI1)
  • Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTHFD1)
  • Allelic: Neutropenia, nonimmune chronic idiopathic, of adults (GFI1)
  • Allelic: Parkinson disease 13 (HTRA2)
  • Allelic: Porokeratosis 3, multiple types (MVK)
  • Allelic: Retinitis pigmentosa + erythrocytic microcytosis (TRNT1)
  • Allelic: Rheumatoid arthritis, susceptibility to (CIITA)
  • Allelic: SEC61A1 deficiency
  • Allelic: Severe recurrent respiratory tract infections
  • Allelic: Singleton-Merten syndrome 1 (IFIH1)
  • Allelic: Squamous cell carcinoma, burn scar-related, somatic (FAS)
  • Allelic: Susceptibility to mycobacteria, brain calcifications [panelapp] (ISG15)
  • Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
  • Allelic: Thrombocytopenia, XL (WAS)
  • Allelic: Thrombocytopenia, XL, intermittent (WAS)
  • Allelic: Tuberculosis infection, protection against (IFNGR1)
  • Allelic: Tuberculosis, susceptibility to (IFNGR1)
  • Allelic: Tubulointerstitial kidney disease, AD, 5 (SEC61A1)
  • Allelic: Van Esch-O'Driscoll s: ID, short stature, microceph., hypogonad., cong. malform. (POLA1)
  • Allelic: Van Maldergem syndrome 2 (FAT4)
  • 3-methylglutaconic aciduria, type VIIA, AD (CLPB)
  • 3-methylglutaconic aciduria, type VIIB, AR (CLPB)
  • 3-methylglutaconic aciduria, type VIII (HTRA2)
  • ARHGEF1 deficiency [panelapp] (ARHGEF1)
  • Activated PI3K-delta syndrome [panelapp] (PIK3CD)
  • Activated PI3K-delta syndrome [panelapp] (PIK3R1)
  • Adenosine deaminase deficiency, partial (ADA)
  • Agammaglobulinemia 1 (IGHM)
  • Agammaglobulinemia 2 (IGLL1)
  • Agammaglobulinemia 3 (CD79A)
  • Agammaglobulinemia 4 (BLNK)
  • Agammaglobulinemia 6 (CD79B)
  • Agammaglobulinemia 7, AR (PIK3R1)
  • Agammaglobulinemia 8A, AD (TCF3)
  • Agammaglobulinemia 8B, AR (TCF3)
  • Agammaglobulinemia 9, AR (SLC39A7)
  • Agammaglobulinemia with AR inheritance [panelapp] (CD79A)
  • Agammaglobulinemia with AR inheritance [panelapp] (CD79B)
  • Agammaglobulinemia, XL 1 (BTK)
  • Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
  • Aicardi-Goutieres syndrome 2 (RNASEH2B)
  • Aicardi-Goutieres syndrome 3 (RNASEH2C)
  • Aicardi-Goutieres syndrome 4 (RNASH2A)
  • Aicardi-Goutieres syndrome 5 (SAMHD1)
  • Aicardi-Goutieres syndrome 6 (ADAR)
  • Aicardi-Goutieres syndrome 7 (IFIH1)
  • Anauxetic dysplasia 1 (RMRP)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Angioedema, hereditary, 1 + 2 (SERPING1)
  • Angioedema, hereditary, 3 (F12)
  • Anhidrotic ectodermal dysplasia, infections, colitis, T cell + monocyte dysfunct [panelapp] (NFKBIA)
  • Asplenia, isolated congenital (RPSA)
  • Ataxia-telangiectasia (ATM)
  • Atypical hemolytic-uremic syndrome, infections, preeclampsia [panelapp] (CD46)
  • Atypical severe combined immunodeficiency [panelapp] (JAK3)
  • Autoantibodies common, chronic skin ulcers, eczema, infections [panelapp] (PEPD)
  • Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
  • Autoimmune disease, multisystem, with facial dysmorphism (ITCH)
  • Autoimmune interstitial lung, joint + kidney disease (COPA)
  • Autoimmune lymphoproliferative syndrome, type IA (FAS)
  • Autoimmune lymphoproliferative syndrome, type IB (FASLG)
  • Autoimmune lymphoproliferative syndrome, type II (CASP10)
  • Autoimmune lymphoproliferative syndrome, type III (PRKCD)
  • Autoimmune lymphoproliferative syndrome, type V (CTLA4)
  • Autoimmune polyendocrinopathy syndrome , type I, with/+out reversible metaphyseal dysplasia (AIRE)
  • Autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy, APECED (panelapp] (ITCH)
  • Autoinflammation with episodic fever + lymphadenopathy (RIPK1)
  • Autoinflammation with infantile enterocolitis (NLRC4)
  • Autoinflammation, antibody deficiency + immune dysregulation syndrome (PLCG2)
  • Autoinflammation, panniculitis + dermatosis syndrome (OTULIN)
  • Autoinflammatory disorders [panelapp] (ADA2 ADAR CARD14 IL1RN IL36RN LPIN2)
  • Autoinflammatory syndrome, familial, Behcet-like 1 (TNFAIP3)
  • Autoinflammatory-pancytopenia syndrome (DNASE2)
  • B-cell expansion with NFKB + T-cell anergy (CARD11)
  • B-cell immunodeficiency, distal limb anomalies + urogenital malformations (TOP2B)
  • Bacterial + viral infections, severe neurologic disease, CDG-IIb [panelapp] (MOGS)
  • Bacterial infections, enlarged lymph nodes + germinal centers [panelapp] (AICDA)
  • Bare lymphocyte syndrome, type I (TAP1)
  • Bare lymphocyte syndrome, type I, due to TAP2 deficiency (TAP2)
  • Bare lymphocyte syndrome, type II, complementation group A (CIITA)
  • Bare lymphocyte syndrome, type II, complementation group B (RFXANK)
  • Bare lymphocyte syndrome, type II, complementation group C (RFX5)
  • Bare lymphocyte syndrome, type II, complementation group D (RFXAP)
  • Bare lymphocyte syndrome, type II, complementation group E (RFX5)
  • Barth syndrome (TAFAZZIN)
  • Blau syndrome (NOD2)
  • Bloom syndrome (BLM)
  • Bone marrow failure syndrome 2 (ERCC6L2)
  • Bone marrow failure syndrome 3 (DNAJC21)
  • Bone marrow failure syndrome 4 (MYSM1)
  • C1q deficiency (C1QA, C1QB, C1QC)
  • C1r/C1s deficiency, combined, Lupus [panelapp] (C1R)
  • C1s deficiency (C1S)
  • C2 deficiency (C2)
  • C3 deficiency (C3)
  • C4B deficiency (C4B)
  • C4a deficiency (C4A)
  • C5 deficiency (C5)
  • C6 deficiency (C6)
  • C7 deficiency (C7)
  • C8 deficiency, type I (C8A)
  • C8 deficiency, type II (C8B)
  • C9 deficiency (C9)
  • CD40 deficiency [panelapp] (CD40)
  • CD79A deficiency [panelapp] (CD79A)
  • CD79B deficiency [panelapp] (CD79B)
  • CD81 deficiency [panelapp] (CD81)
  • CHARGE syndrome (CHD7)
  • CINCA syndrome (NLRP3)
  • CSR defects + hyper IgM syndromes [panelapp] (AICDA, CD40)
  • Candidiasis, familial, 2, AR (CARD9)
  • Candidiasis, familial, 9 (IL17RC)
  • Cartilage-hair hypoplasia (RMRP)
  • Caspase 8 lymphadenopathy syndrome (CASP8)
  • Central adrenal insufficiency [panelapp] (NFKB2)
  • Chediak-Higashi syndrome (LYST)
  • Chilblain lupus 2 (SAMHD1, TREX1)
  • Cholestasis, progressive familial intrahepatic, 10 (MYO5B)
  • Chronic granulomatous disease 1, AR (NCF1)
  • Chronic granulomatous disease 2, AR (NCF2)
  • Chronic granulomatous disease 3, AR (NCF4)
  • Chronic granulomatous disease 4, AR (CYBA)
  • Chronic granulomatous disease, XL (CYBB)
  • Chronic mucocutaneous candidiasis [panelapp] (IL17RC)
  • Chronic rec. multifocal osteomyel./transfusion-dep. anemia/cutan. inflamm. dis. [panelapp] (LPIN2)
  • Cogn. + neurol. defects in patients with both HAX1 isoforms, suscept MDS/leukemia [panelapp] (HAX1)
  • Cohen syndrome (VPS13B)
  • Combined C6/C7 deficiency (C6, C7)
  • Combined immunodeficiencies + associated/syndromic features ( RNF168, SLC46A1, SPINK5)
  • Combined immunodeficiencies + associated/syndromic features (ATM, BLM, CCBE1, CHD7, HELLS, RMRP)
  • Combined immunodeficiency [panelapp] (ICOS, LIG4, MALT1, NFKBIA, PIK3CD, PIK3R1)
  • Combined immunodeficiency, XL moderate (IL2RG)
  • Combined immunodeficiency, megaloblastic anemia +/- hyperhomocysteinemia (MTHFD1)
  • Common variable immunodeficiency disorders [panelapp] (CR2)
  • Complement component 1 deficiency [panelapp] (C1R)
  • Complement component 4, partial deficiency of (SERPING1)
  • Complement deficiencies [panelapp] (CD46)
  • Complement factor D deficiency (CFD)
  • Complement factor H deficiency (CFH)
  • Complement factor I deficiency (CFI)
  • Complement hyperactivation, angiopathic thrombosis + protein-losing enteropathy (CD55)
  • Congenital defects of phagocyte number or function [panelapp] ( )
  • Congenital defects of phagocyte number or function [panelapp] (CSF2RA CTSC HAX1 JAGN1 LAMTOR2 RAC2)
  • Congenital disorder of glycosylation, type IIb (MOGS)
  • Congenital disorder of glycosylation, type IIc (SLV35C1)
  • Congenital disorder of glycosylation, type IIw (SLC37A4)
  • Congenital ichthyosis, bamboo hair, atopy, bacterial infects, failure to thrive [panelapp] (SPINK5)
  • Congenital neutropenia [panelapp] (LAMTOR2)
  • Congenital pulmonary alveolar proteinosis [panelapp] (CSF2RA)
  • DNA ligase IV deficiency [panelapp] (LIG4)
  • Defects in intrinsic + innate immunity [panelapp] (IL17RC, ISG15, SPPL2A, RPSA, TMC6, TMC8)
  • Defects of TLR/NFkappa-B signalling [panelapp] (NFKBIA)
  • Diarrhea 2, with microvillus atrophy, with/-out cholestasis (MYO5B)
  • Diseases of immune dysregulation [panelapp] (FAAP24 ITCH LRBA LYST PEPD PRF1 RAB27A)
  • Dursun syndrome (G6PC3)
  • Dyskeratosis congenita, AD 4 (RTEL1)
  • Dyskeratosis congenita, AD 6 (ACD)
  • Dyskeratosis congenita, AR 2 (NHP2)
  • Dyskeratosis congenita, AR 5 (RTEL1)
  • Dyskeratosis congenita, AR 6 (PARN)
  • Dyskeratosis congenita, AR 7 (ACD)
  • Dyskeratosis congenita, XL (DKC1)
  • EBV infection-driven lymphoproliferative disease [panelapp] (FAAP24)
  • Early infections, blistering dermatosis, failure to thrive, thrombocytopenia [panelapp] (SLC39A7)
  • Ectodermal dysplasia + immunodeficiency 1 (IKBKG syn. NEMO)
  • Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency (NFKBIA)
  • Ehlers-Danlos syndrome, periodontal type, 1 (C1R)
  • Ehlers-Danlos syndrome, periodontal type, 2 (C1S)
  • Emberger syndrome (GATA2)
  • Encephalopathy, acute, infection-induced [herpes-specific], susceptibility to, 1 (UNC93B1)
  • Encephalopathy, acute, infection-induced [herpes-specific], susceptibility to, 5 (TRAF3)
  • Encephalopathy, acute, infection-induced [herpes-specific], susceptibility to, 6 (TICAM1 syn. TRIF)
  • Encephalopathy, acute, infection-induced [herpes-specific], susceptibility to, 8 (TBK1)
  • Enlarged lymph nodes + germinal centers [panelapp] (UNG)
  • Epidermodysplasia verruciformis (TMC6)
  • Epidermodysplasia verruciformis 2 (TMC8)
  • Familial Mediterranean fever, AD, AR (MEFV)
  • Familial cold autoinflammatory syndrome 2 (NLRP12)
  • Familial cold autoinflammatory syndrome 3 (PLCG2)
  • Familial cold autoinflammatory syndrome 4 (NLRC4)
  • Fever syndromes + related diseases [panelapp] (ADAR)
  • Folate malabsorption, hereditary (SLC46A1)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (TBK1)
  • Gastrointestinal defects and immunodeficiency syndrome (TTC7A)
  • Glycogen storage disease Ib (SLC37A4)
  • Glycogen storage disease Ic (SLC37A4)
  • Graft-versus-host disease, protection against (IL10)
  • Granulocytopenia + deafness [panelapp] (AK2)
  • Griscelli syndrome, type 2 (RAB27A)
  • Growth hormone insensitivity with immune dysregulation 1, AR (STAT5B)
  • Growth hormone insensitivity with immune dysregulation 2, AD (STAT5B)
  • HIV1 infection, resistance to (TLR3)
  • HIV1, susceptibility to (IL10)
  • Haim-Munk syndrome (CTSC)
  • Hemolytic anemia due to elevated adenosine deaminase (GATA1)
  • Hemolytic anemia, CD59-mediated, with/-out immune-mediated polyneuropathy (CD59)
  • Hemolytic anemia, G6PD deficient, favism (G6PC3)
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2 (CD46)
  • Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
  • Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
  • Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
  • Hemophagocytic lymphohistiocytosis, familial, 5, +/- microvillus inclusion disease (STXBP2)
  • Hennekam lymphangiectasia-lymphedema syndrome 1 (CCBE1)
  • Hennekam lymphangiectasia-lymphedema syndrome 2 (FAT4)
  • Hepatic venoocclusive disease with immunodeficiency (SP110)
  • Hermansky-Pudlak syndrome 1, 4, 6 (HPS1, HPS4, HPS6)
  • Hermansky-Pudlak syndrome 2 (AP3B1)
  • Histiocytosis-lymphadenopathy plus syndrome (SLC29A3)
  • Hyper-IgD syndrome (MVK)
  • Hyper-IgE recurrent infection syndrome (STAT3)
  • Hyper-IgE recurrent infection syndrome, AR (DOCK8)
  • Hyper-IgM syndrome due to CD40 deficiency [panelapp] (CD40)
  • Hyper-IgM syndrome with lymphoid hyperplasia [panelapp] (AICDA, UNG)
  • Hypersensitivity [panelapp] (CSF2RA)
  • Hypogammaglobulinaemia [panelapp] (CD81, CR2, ICOS, NFKB2)
  • Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory [panelapp] (PLCG2)
  • IKAROS deficiency [panelapp] (IKZF1)
  • IgA with IgG subclass deficiency [panelapp] (TNFRSF13B)
  • Immune dysregulation [panelapp] (NFKB2)
  • Immunodeficiencies affecting cell. + hum. immunity [panelapp] (AK2, CD40, ICOS, ICOSLG, IKBKB)
  • Immunodeficiencies affecting cell. + hum. immunity [panelapp] (JAK3 MAPK14)
  • Immunodeficiency + hepatopathy with/-out neurologic features [panelapp] (ATP6AP1)
  • Immunodeficiency 10 (STIM1)
  • Immunodeficiency 104, severe combined (IL7R)
  • Immunodeficiency 105, severe combined (PTPRC)
  • Immunodeficiency 107, susceptibility to invasive staph. aureus infection (OTULIN)
  • Immunodeficiency 108 with autoinflammation (CEBPE)
  • Immunodeficiency 11A (CARD11)
  • Immunodeficiency 11B with atopic dermatitis (CARD11)
  • Immunodeficiency 12 (MALT1)
  • Immunodeficiency 14A, AD (PIK3CD)
  • Immunodeficiency 14B, AR (PIK3CD)
  • Immunodeficiency 15A (IKBKB)
  • Immunodeficiency 15B (IKBKB)
  • Immunodeficiency 17, CD3 gamma deficient (CD3G)
  • Immunodeficiency 18 (CD3E)
  • Immunodeficiency 18, SCID variant (CD3E)
  • Immunodeficiency 19, severe combined (CD3D)
  • Immunodeficiency 21 (GATA2)
  • Immunodeficiency 22 (LCK)
  • Immunodeficiency 23 (PGM3)
  • Immunodeficiency 24 (CTPS1)
  • Immunodeficiency 27A, mycobacteriosis, AR (IFNGR1)
  • Immunodeficiency 27B, mycobacteriosis, AD (IFNGR1)
  • Immunodeficiency 28, mycobacteriosis (IFNGR2))
  • Immunodeficiency 30 (IL12RB1)
  • Immunodeficiency 31A, mycobacteriosis, AD (STAT1)
  • Immunodeficiency 31B, mycobacterial + viral infections, AR (STAT1)
  • Immunodeficiency 31C, chronic mucocutaneous candidiasis, AD (STAT1)
  • Immunodeficiency 32A, mycobacteriosis, AD (IRF8)
  • Immunodeficiency 32B, monocyte and dendritic cell deficiency, AR (IRF8)
  • Immunodeficiency 33 (IKBKG syn. NEMO)
  • Immunodeficiency 34, mycobacteriosis, XL (CYBB)
  • Immunodeficiency 35 (TYK2)
  • Immunodeficiency 36 (PIK3R1)
  • Immunodeficiency 38 (ISG15)
  • Immunodeficiency 40 (DOCK2)
  • Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
  • Immunodeficiency 42 (RORC)
  • Immunodeficiency 43 (B2M)
  • Immunodeficiency 44 (STAT2)
  • Immunodeficiency 47 (ATP6AP1)
  • Immunodeficiency 48 (ZAP70)
  • Immunodeficiency 50 (MSN)
  • Immunodeficiency 51 (IL17RA)
  • Immunodeficiency 52 (LAT)
  • Immunodeficiency 54 (MCM4)
  • Immunodeficiency 55 (GINS1)
  • Immunodeficiency 56 (IL21R)
  • Immunodeficiency 57 with autoinflammation (RIPK1)
  • Immunodeficiency 58 (CARMIL2)
  • Immunodeficiency 60 + autoimmunity (BACH2
  • Immunodeficiency 61 (SH3KBP1)
  • Immunodeficiency 62 (ARHGEF1)
  • Immunodeficiency 64 (RASGRP1)
  • Immunodeficiency 67 (IRAK4)
  • Immunodeficiency 68 (MYD88)
  • Immunodeficiency 69, mycobacteriosis (IFNG)
  • Immunodeficiency 7, TCR-alpha/beta deficient (TRAC)
  • Immunodeficiency 71 with inflammatory disease + congenital thrombocytopenia (ARPC1B)
  • Immunodeficiency 73A with defective neutrophil chemotaxix + leukocytosis (RAC2)
  • Immunodeficiency 73B with defective neutrophil chemotaxis + lymphopenia (RAC2)
  • Immunodeficiency 73C with defective neutrophil chemotaxis + hypogammaglobulinemia (RAC2)
  • Immunodeficiency 78 with autoimmunity + developmental delay (TPP2)
  • Immunodeficiency 8 (CORO1A)
  • Immunodeficiency 83, susceptibility to viral infections (TLR3)
  • Immunodeficiency 86, mycobacteriosis (SPPL2A)
  • Immunodeficiency 9 (ORAI1)
  • Immunodeficiency 90 with encephalopathy, functional hyposplenia + hepatic dysfunction (FADD)
  • Immunodeficiency 95 (IFIH1)
  • Immunodeficiency due to a classical component pathway complement deficiency [panelapp] (C1R)
  • Immunodeficiency due to defect in MAPBP-interacting protein (LAMTOR2)
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency (PNP)
  • Immunodeficiency with hyper-IgM, type 2 (AICDA)
  • Immunodeficiency with hyper-IgM, type 3 (CD40)
  • Immunodeficiency with hyper-IgM, type 5 (UNG)
  • Immunodeficiency with hypogammaglobulinaemia, lymphoproliferation, inflammatory disease (PIK2R1)
  • Immunodeficiency, XL, with hyper-IgM (CD40LG)
  • Immunodeficiency, XL, with magnesium defect, EBV infection + neoplasia (MAGT1)
  • Immunodeficiency, common variable, 1 (ICOS)
  • Immunodeficiency, common variable, 10 (NFKB2)
  • Immunodeficiency, common variable, 12 (NFKB1)
  • Immunodeficiency, common variable, 13 (ICZF1)
  • Immunodeficiency, common variable, 14 (IRF2BP2)
  • Immunodeficiency, common variable, 2 (TNFRSF13B)
  • Immunodeficiency, common variable, 3 (CD19)
  • Immunodeficiency, common variable, 5 (MS4A1)
  • Immunodeficiency, common variable, 6 (CD81)
  • Immunodeficiency, common variable, 7 (CR2)
  • Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B)
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24)
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (CDCA7)
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (HELLS)
  • Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
  • Immunoglobulin A deficiency 2 (TNFRSF13B)
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities (EXTL3)
  • Inflammatory bowel disease 1, Crohn disease (NOD2)
  • Inflammatory bowel disease 25, early onset, AR (IL10RB)
  • Inflammatory bowel disease 28, early onset, AR (IL10RA)
  • Interleukin 1 receptor antagonist deficiency (IL1RN)
  • Isolated IgG subclass deficiency [panelapp] (CD19, ICOS)
  • Isolated growth hormone deficiency, type III, with agammaglobulinemia (BTK)
  • LIG4 syndrome (LIG4)
  • Leukocyte adhesion deficiency (ITGB2)
  • Leukocyte adhesion deficiency, type III (FERMT3)
  • Low NK number/function, rec. bact., viral, Cryptosporidium infections [panelapp] (MAP3K14)
  • Lung disease, immunodeficiency + chromosome breakage syndrome (NSMCE3)
  • Lupus [panelapp] (CR2)
  • Lymphangiectasia + lymphedema with facial abnormalities + dysmorphic features [panelapp] (CCBE1)
  • Lymphoproliferation, autoimmunity [panelapp] (PTEN)
  • Lymphoproliferative syndrome 1 (ITK)
  • Lymphoproliferative syndrome 2 (CD27)
  • Lymphoproliferative syndrome 3 (CD70)
  • Lymphoproliferative syndrome, XL, 1 (SH2D1A)
  • Lymphoproliferative syndrome, XL, 2 (XIAP)
  • Macroglobulinemia, Waldenstrom, somatic (MYD88)
  • Majeed syndrome (LPIN2)
  • Membrane Cofactor Protein (CD46) deficiency [panelapp] (CD46)
  • Metaphyseal dysplasia without hypotrichosis (RMRP)
  • Mevalonic aciduria (MVK)
  • Mycobacterium tuberculosis, susceptibility to (SP110)
  • Myelokathexis, isolated (CXCR4)
  • NO80 deficiency [panelapp] (INO80)
  • Nephrotic syndrome, type 14 (SGPL1)
  • Netherton syndrome (SPINK5)
  • Neutropenia [panelapp] (HTRA2)
  • Neutropenia, cyclic (ELANE)
  • Neutropenia, severe congenital 1, AD (ELANE)
  • Neutropenia, severe congenital 2, AD (GFI1)
  • Neutropenia, severe congenital 3, AR (HAX1)
  • Neutropenia, severe congenital 4, AR (G6PC3)
  • Neutropenia, severe congenital, 5, AR (VPS45)
  • Neutropenia, severe congenital, 6, AR (JAGN1)
  • Neutropenia, severe congenital, 7, AR (CSF3R)
  • Neutropenia, severe congenital, 9, AD (CLPB)
  • Neutropenia, severe congenital, XL (WAS)
  • Neutropenia/hypo-Ig emia CD8 cytotoxicity/partial albinism/growth failure [panelapp] (LAMTOR2)
  • Neutrophilia, hereditary (CSF3R)
  • Neutrophilic dermatosis, acute febrile (MEFV)
  • Nijmegen breakage syndrome (NBN)
  • Oculocutan. albinism, bleeding, inflamm. bowel disease, pulmonary fibrosis [panalapp] (HPS1)
  • Omenn syndrome (DCLRE1C, JAK3, RAG1, RAG2, RMRP)
  • Papillon-Lefevre syndrome (CTSC)
  • Partial albinism, fever, HSM, HLH, cytopenias [panelapp] (RAB27A)
  • Partial albinism/rec. infections, fever/giant lysosomes/cytopenias/bleeding/neurol. dysfunct. (LYST
  • Periodontitis 1, juvenile (CTSC)
  • Pigmentary disorder, reticulate, with systemic manifestations, XL (POLA1)
  • Pityriasis rubra pilaris (CARD14)
  • Poikiloderma with neutropenia (USB1)
  • Polyarteritis nodosa, childhood-onset, early recurrent ischemic stroke + fever [panelapp] (ADA2)
  • Polyglucosan body myopathy 1 with/-out immunodeficiency (RBCK1)
  • Predominant antibody defciency [panelapp] (AICDA ARHGEF1 ATP6AP1 BLNK CD19 CD79B CD81 CR2 IGLL1)
  • Predominant antibody deficiency [panelapp] ( SEC61A1 SH3KBP1 SLC39A7 TCF3 TNFRSF13B UNG)
  • Predominant antibody deficiency [panelapp] (IKZF1 INO80 IRF2BP2 MOGS MS4A1 NFKB1 NFKB2 PIK3CD PTEN)
  • Primary immunodeficiency + multifaceted áberrant lymphoid immunity [panelapp] (MAP3K14)
  • Primary immunodeficiency syndrome due to p14 deficiency [panelapp] (LAMTOR2)
  • Prolidase deficiency (PEPD)
  • Properdin deficiency, XL (CFP)
  • Proteasome-associated autoinflammatory syndrome 1 + digenic forms (PSMB8)
  • Proteasome-associated autoinflammatory syndrome 2 (POMP)
  • Pseudo-TORCH syndrome 3 (STAT2)
  • Psoriasis 14, pustular (IL36RN)
  • Psoriasis 2 (CARD14)
  • Pulmonary alveolar proteinosis [panelapp] (CSF2RA)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
  • Pyogenic sterile arthritis, pyoderma gangrenosum + acne (PSTPIP1)
  • RIDDLE syndrome: radiosensitivity/immunodeficiency/dysmorphic face, difficult learning (RNF168)
  • Recessive atypical combined immunodeficiency [panelapp] (MAP3K14)
  • Recurrent bacterial + viral infections [panelapp] (ICOSLG)
  • Recurrent bacterial infections [panelapp] (TCF3)
  • Recurrent bacterial, viral, fungal, opportunistic infections [panelapp] (IKBKB)
  • Recurrent infections [panelapp] (CR2, MS4A1)
  • Recurrent infections like e.g. glomerulonephritis [panelapp] (CD19 CD81)
  • Recurrent infections, autoimmunity, gastroenteritis, granulomas [panelapp] (ICOS)
  • Recurrent infections, bronchiectasis [panelapp] (ARHGEF1)
  • Recurrent infections, facial dysmorphism, limb anomalies [panelapp] (TOP2B)
  • Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections [panelapp] (LRBA)
  • Recurrent infections, lymphoproliferation, autoimmunity [panelapp] (PTEN)
  • Recurrent infections, possible autoimmunity + inflammatory disease [panelapp] (IRF2BP2)
  • Recurrent sinopulmonary infections [panelapp] (IKZF1, NFKB1, NFKB2)
  • Recurrent sinopulmonary infections, alopecia, endorinopathies [panelapp] (NFKB2)
  • Recurrent sinopulmonary infections, selective IgA defiency [panelapp] (RAC2)
  • Resistance to malaria due to G6PD deficiency (G6PD)
  • Reticular dysgenesis (AK2)
  • Reticular dysgenesis [panelapp] (RAC2)
  • Reticular dysgenesis with sensorineural deafness [panelapp] (AK2)
  • Rheumatoid arthritis, progression of (IL10)
  • SCID, AR, T cell-negative, B cell-positive, NK cell-negative [panelapp] (JAK3)
  • SCID, AR, T-negative/B-positive type (JAK3)
  • SH3KBP1/CIN85 deficiency [panelapp] (SH3KBP1)
  • SHORT syndrome (PIK3R1)
  • STING-associated vasculopathy, infantile-onset (STING1)
  • Schimke immunoosseous dysplasia (SMARCAL1)
  • Selective IgA deficiency [panelapp] (TNFRSF13B)
  • Severe bacterial infections [panelapp] (INO80, SH3KBP1)
  • Severe bacterial infections, decreased or absent pro-B cells [panelapp] (PIK3R1)
  • Severe bacterial infections, normal numbers of pro-B cells [panelapp] (BLNK CD79A CD79B IGLL1)
  • Severe bacterial infections, pro-B cells present, few memory B cells, EBV [panelapp] (PIK3R1)
  • Severe combined immunodeficiency due to ADA deficiency (ADA)
  • Severe combined immunodeficiency, SCID [panelapp] (LIG4)
  • Severe combined immunodeficiency, XL (IL2RG)
  • Severe combined immunodeficiency, microcephaly, growth retard., sensit. to ionizing radiat. (NHEJ1)
  • Shwachman-Diamond syndrome 1 (SBDS)
  • Sideroblastic anemia with B-cell immunodef., periodic fevers, developmental delay (TRNT1)
  • Sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, herpesviremia [panelapp] (PIK3CD)
  • Sneddon syndrome (ADA2)
  • Specific granule deficiency (CEBPE)
  • Spondyloenchondrodysplasia with immune dysregulation (ACP5)
  • Sterile multifocal osteomyelitis, periostitis + pustulosis [panelapp] (IL1RN)
  • Stormorken s.: thrombocytopenia, anemia, asplenia, tub. aggr. myopathy, miosis/ichthyosis (STIM1)
  • Surfactant metabolism dysfunction, pulmonary, 4 (CSF2RA)
  • Surfactant metabolism dysfunction, pulmonary, 5 (CSF2RB)
  • Susceptibility to mycobacteria (SPPL2A)
  • Syndromic multisystem autoimmune disease due to Itch deficiency (panelapp] (ITCH)
  • T-cell immunodeficiency, congenital alopecia + nail dystrophy (FOXN1)
  • T-cell immunodeficiency, recurrent infections, autoimmunity + cardiac malformations (STK4)
  • T-cell lymphopenia, infantile, with/-out nail dystrophy, AD (FOXN1)
  • T-cell prolymphocytic leukemia, somatic (ATM)
  • Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
  • Transcobalamin II deficiency (TCN2)
  • Trichohepatoenteric syndrome 1 (SKIC3)
  • Trichohepatoenteric syndrome 2 (SKIV2L)
  • Type 1 interferonopathies [panelapp] (ADAR)
  • Vasculitis, autoinflammation, immunodeficiency + hematologic defects syndrome (ADA2)
  • Vasculopathy, retinal, with cerebral leukoencephalopathy, systemic manifestations (TREX1)
  • Vici syndrome (EPG5)
  • WHIM syndrome 1 (CXCR4)
  • WHIM syndrome 2 (CXCR2)
  • Wiskott-Aldrich syndrome 2 (WIPF1)
  • Yao syndrome: periodic fever, dermatitis, arthritis, swelling distal extremities; multifact. (NOD2)
Erbgänge, Vererbungsmuster etc.
  • K-a
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
D84.8

Bioinformatik und klinische Interpretation

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