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Antibody Deficiency due to Defect in CD19
ataxia telangiectasia + An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. (DO)
ataxia with oculomotor apraxia type 1
ataxia with oculomotor apraxia type 3
ataxia-oculomotor apraxia type 4
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated
Autoinflammation, Immune Dysregulation, and Eosinophilia
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
autosomal dominant familial periodic fever
autosomal recessive spinocerebellar ataxia 10
autosomal recessive spinocerebellar ataxia 11
autosomal recessive spinocerebellar ataxia 12
autosomal recessive spinocerebellar ataxia 13
autosomal recessive spinocerebellar ataxia 14
autosomal recessive spinocerebellar ataxia 15
autosomal recessive spinocerebellar ataxia 16
autosomal recessive spinocerebellar ataxia 17
autosomal recessive spinocerebellar ataxia 18
autosomal recessive spinocerebellar ataxia 19
autosomal recessive spinocerebellar ataxia 2
autosomal recessive spinocerebellar ataxia 20
autosomal recessive spinocerebellar ataxia 21
autosomal recessive spinocerebellar ataxia 22
autosomal recessive spinocerebellar ataxia 23
autosomal recessive spinocerebellar ataxia 24
autosomal recessive spinocerebellar ataxia 25
autosomal recessive spinocerebellar ataxia 26
autosomal recessive spinocerebellar ataxia 27
autosomal recessive spinocerebellar ataxia 28
autosomal recessive spinocerebellar ataxia 29
autosomal recessive spinocerebellar ataxia 3
autosomal recessive spinocerebellar ataxia 30
autosomal recessive spinocerebellar ataxia 31
autosomal recessive spinocerebellar ataxia 32
autosomal recessive spinocerebellar ataxia 33
autosomal recessive spinocerebellar ataxia 4
autosomal recessive spinocerebellar ataxia 6
autosomal recessive spinocerebellar ataxia 7
autosomal recessive spinocerebellar ataxia 8
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy +
C9 Deficiency with Dermatomyositis
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
Cayman type cerebellar ataxia
Cd4+ Lymphocyte Deficiency
cerebellar ataxia, mental retardation and dysequlibrium syndrome +
Charlevoix-Saguenay spastic ataxia
combined immunodeficiency +
Combined Inflammatory and Immunologic Defect
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Cutaneous Telangiectasia and Cancer Syndrome, Familial
Cutis Marmorata Telangiectatica Congenita
Davenport Donlan Syndrome
Deltaretrovirus Infections +
dendritic cell deficiency +
ectodermal dysplasia and immune deficiency +
Encephalocraniocutaneous Lipomatosis
Endotoxin Hyporesponsiveness
epidermodysplasia verruciformis +
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Familial Behcet-Like Autoinflammatory Syndrome +
familial cold autoinflammatory syndrome +
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency
Generalized Essential Telangiectasia
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
Gomez Lopez Hernandez Syndrome
hepatic venoocclusive disease with immunodeficiency
hereditary hemorrhagic telangiectasia +
Hereditary Neurocutaneous Angioma
human immunodeficiency virus infectious disease +
Hypoglobulinemia and Absent B Cells
hypotrichosis-lymphedema-telangiectasia syndrome +
Immune Deficiency Disease
Immune Deficiency, Familial Variable
IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
Immunodeficiency 78 with Autoimmunity and Developmental Delay
Immunodeficiency 87 and Autoimmunity
Immunodeficiency 89 and Autoimmunity
IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
Immunodeficiency 97 with Autoinflammation
Immunodeficiency 98 with Autoinflammation, X-Linked
Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin beta deficiency
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY
Inosine Phosphorylase Deficiency, Immune Defect Due To
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
Johnson Neuroectodermal Syndrome
linear nevus sebaceous syndrome +
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
Lymphoblastic Transformation, Intrinsic Defect in
lymphoproliferative syndrome +
Marinesco-Sjogren syndrome
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
mitochondrial DNA depletion syndrome 7
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
NEMO Mutation with Immunodeficiency
Nijmegen breakage syndrome +
Nijmegen Breakage Syndrome-Like Disorder
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes
Phacomatosis Pigmentovascularis
phagocyte bactericidal dysfunction +
primary coenzyme Q10 deficiency 4
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Progressive Lymphoid System Deterioration
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related
Roifman-Chitayat Syndrome
Rothmund-Thomson syndrome +
Schimke immuno-osseous dysplasia
severe combined immunodeficiency +
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
T cell and NK cell immunodeficiency +
T Cell Immunodeficiency Primary
Thumb Agenesis, Short Stature, and Immunodeficiency
von Hippel-Lindau disease
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein
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