Disease #05292 (IMD (immunodeficiency (IMD)))

Official abbreviation IMD
Name immunodeficiency (IMD)
OMIM ID -
Inheritance -
Individuals reported having this disease 22
Phenotype entries for this disease 21
Associated with 1 gene ATP6AP1
Associated tissues -
Disease features -
Remarks -


Individuals

22 entries on 1 page. Showing entries 1 - 22.
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00001466 FamHED-ID4PatIII1/2;Pat5/6 PubMed: Zonana 2000, PubMed: Orange 2004, PubMed: Fuleihan 1993 3-generation family, carrier female, 2 deceased male patients M ? United States - - 0 - - IMD see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency IKBKG IKBKG 1 2 Francesca Fusco
00105824 28216435-FamPat1 PubMed: Gavino 2017, Journal: Gavino 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/sister M yes Canada Coptic - 0 - - IMD see paper; ..., failure to thrive, adrenal insufficiency, infancy-inflammatory enterocolitis, 9m-recurrent respiratory tract infections, intermittent mucocutaneous candidiasis, recurrent herpes simplex virus stomatitis, 3x varicella-zoster virus infections, visible thymus, normal immunoglobulin isotypes with poor response to vaccines, persistent CD81 lymphocytopenia (0.01-0.03 total T-cells age-adjusted reference range); older brother died at 16m from suspected viral encephalitis ZAP70 ZAP70 1 1 Johan den Dunnen
00131880 patient 1 - 1 affected M no Belgium - 01y 0 yes - IMD immunodeficiency (IMD-47), hepatopathy, cutis laxa, dilatation of sinus aortae, cholestasis, hepatopathy, diaphragmatic hernia, recurrent infections ATP6AP1 ATP6AP1 1 1 Jeroen Breckpot
00208910 Patient A Journal: Geier 2018 - M no Austria - - 0 - - IMD - BLNK, BTK BTK 1 1 Gerard C.P. Schaafsma
00266102 FamPatV1 PubMed: Picard 2009 5-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives F yes France - 9y 0 - - IMD infection with Escherichia coli and Streptococcus pneu-moniae resulting in sepsis, urinary tract infections, pneumonia, infection with CMV and VZV; hemolytic anemia, thrombocytopenia; lymphadenopathy, hepatosplenomegaly; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel; 9y-died from hematopoietic stem-cell transplantation complications STIM1 STIM1 1 3 Johan den Dunnen
00266103 FamPatV4 PubMed: Picard 2009 - F yes France - 18m 0 - - IMD infection with EBV, enteroviral encephalitis, prolonged diarrhea; hemolytic anemia, thrombocytopenia; lymphadenopathy, hepatosplenomegaly; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel, nephrotic syndrome; 18m-died from encephalitis - - 0 1 Johan den Dunnen
00266104 FamPatV7 PubMed: Picard 2009 - M yes France - - 0 - - IMD undocumented sepsis, treatment with IV immune globulin since birth; thrombocytopenia; no lymphoproliferative disorder; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel, hypoglycemia; 15m-hematopoietic stem-cell transplantation, currently alive and well with muscular hypotonia STIM1 STIM1 1 1 Johan den Dunnen
00266105 FamPatIV2 PubMed: Byun 2010 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - 2y4m 0 - - IMD see paper; … STIM1 STIM1 1 1 Johan den Dunnen
00266114 FamPatII1/2 PubMed: Tadic 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - 0 - - IMD see paper; … CAPN1 CAPN1 1 1 Johan den Dunnen
00266115 Fam1PatII1 PubMed: Kocoglu 2018 - F - Turkey - - 0 - - IMD lower limb spaticity, upper limb spaticity, gait ataxia, limb ataxia, dysarthria, dysmetria; MRI brain/spinal normal; nerve conduction study normal; keratoconus CAPN1 CAPN1 1 1 Johan den Dunnen
00266116 Fam2PatII1 PubMed: Kocoglu 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - 0 - - IMD lower limb spaticity, upper limb spaticity, gait ataxia, limb ataxia, dysarthria, dysmetria; MRI brain/spinal normal; nerve conduction study normal, sensory evoked potential normal CAPN1 CAPN1 1 2 Johan den Dunnen
00266117 Fam2PatII2 PubMed: Kocoglu 2018 - F yes Turkey - - 0 - - IMD lower limb spaticity, no upper limb spaticity, gait ataxia, limb ataxia, dysarthria CAPN1 CAPN1 1 1 Johan den Dunnen
00266118 FamPatII4 PubMed: Lambe 2018 2-generation family, 1 affected (2 stillborn F), unaffected heterozygous carrier parents/relatives F - - - - 0 - - IMD see paper; … CAPN1 CAPN1 1 1 Johan den Dunnen
00266119 FamPat PubMed: Travaglini 2017 - M no Italy - - 0 - - IMD see paper; … CAPN1 CAPN1 3 1 Johan den Dunnen
00266149 case1 PubMed: Shetty 2018 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Japan - - 0 - - IMD see paper; …, spastic paraparesis, ataxia (mild); MRI brain and cervical spine normal CAPN1 CAPN1 1 1 Johan den Dunnen
00266150 FamPat2/3 PubMed: Shetty 2018 4-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M yes Turkey - - 0 - - IMD see paper; …, spastic paraparesis, MRI dorsal spinecord atrophy, MRI brain normal CAPN1 CAPN1 1 1 Johan den Dunnen
00266151 case4 PubMed: Shetty 2018 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes India Punjabi - 0 - - IMD see paper; …, spastic paraparesis, ataxia (mild); MRI brain and cervical spine normal CAPN1 CAPN1 1 1 Johan den Dunnen
00331242 Pat1 PubMed: Orange 2002, PubMed: Orange 2004 - M - United States - - 0 - - IMD see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency IKBKG IKBKG 1 1 Johan den Dunnen
00331243 Pat2 PubMed: Orange 2002, PubMed: Orange 2004 - M - United States - - 0 - - IMD see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency IKBKG IKBKG 1 1 Johan den Dunnen
00331244 Pat3 PubMed: Orange 2002, PubMed: Orange 2004 - M - United States - - 0 - - IMD see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency IKBKG IKBKG 1 1 Johan den Dunnen
00331245 Pat4 PubMed: Orange 2004 - M - United States - - 0 - - IMD see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency IKBKG IKBKG 1 1 Johan den Dunnen
00331246 Pat5 PubMed: Orange 2004 - M - United States - - 0 - - IMD see paper; ..., no ectodermal dysplasia, immune deficiency IKBKG IKBKG 1 1 Johan den Dunnen
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